Journal of Child Neurology recent issues

Methylphenidate in Children With Oppositional Defiant Disorder and Both Comorbid Chronic Multiple Tic Disorder and ADHD

Gadow, K. D., Nolan, E. E., Sverd, J., Sprafkin, J., Schneider, J. — 2008-09-30

Our primary objective was to determine if immediate-release methylphenidate is an effective treatment for oppositional defiant disorder diagnosed from mother's report in children with both chronic multiple tic disorder and attention-deficit hyperactivity disorder (ADHD). Children (n = 31) aged 6 to 12 years received placebo and 3 doses of methylphenidate twice daily for 2 weeks each under double-blind conditions and were assessed with ratings scales and laboratory measures. Results indicated significant improvement in both oppositional and ADHD behaviors with medication; however, the magnitude of treatment effect varied considerably as a function of disorder (ADHD > Oppositional behaviors), informant (teacher > mother), assessment instrument, and specific oppositional behavior (rebellious > disobeys rules). Drug response was comparable with that in children (n = 26) who did not have diagnosed oppositional defiant disorder, but comorbidity appeared to alter the perceived benefits for ADHD according to mother's report. Methylphenidate is an effective short-term treatment for oppositional behavior in children with comorbid ADHD and chronic multiple tic disorder.

Quality of Life and Seizure Outcome After Vagus Nerve Stimulation in Children With Intractable Epilepsy

2008-09-30

This study examined the effect of vagus nerve stimulation on quality of life in children with epilepsy using a validated quality-of-life scale and an empirical technique that accounts for measurement error in assessing individual change (the reliable change index). Participants were 34 children with severe intractable epilepsy who underwent vagus nerve stimulation and 19 children with intractable epilepsy who received medical management. Parent-completed epilepsy-specific and global ratings at baseline and after 1 year indicated that most children had no changes in quality of life following vagus nerve stimulation (52%-77%), similar to the comparison group. There was a trend for decreases to be less common in the vagus nerve stimulation group (14% vs 37%, P < .07), but there was no relation between improved quality of life and seizure control. The results raise questions about the mechanisms that underlie changes in quality of life after vagus nerve stimulation in this group of children.

Spinocerebellar Ataxia Type 2 Presenting With Cognitive Regression in Childhood

Ramocki, M. B., Chapieski, L., McDonald, R. O., Fernandez, F., Malphrus, A. D. — 2008-09-30

Spinocerebellar ataxia type 2 typically presents in adulthood with progressive ataxia, dysarthria, tremor, and slow saccadic eye movements. Childhood-onset spinocerebellar ataxia type 2 is rare, and only the infantile-onset form has been well characterized clinically. This article describes a girl who met all developmental milestones until age 31/2 years, when she experienced cognitive regression that preceded motor regression by 6 months. A diagnosis of spinocerebellar ataxia type 2 was delayed until she presented to the emergency department at age 7 years. This report documents the results of her neuropsychologic evaluation at both time points. This case broadens the spectrum of spinocerebellar ataxia type 2 presentation in childhood, highlights the importance of considering a spinocerebellar ataxia in a child who presents with cognitive regression only, and extends currently available clinical information to help clinicians discuss the prognosis in childhood spinocerebellar ataxia type 2.

Impact of Neurofibromatosis Type 1 on School Performance

2008-09-30

School functioning of 86 Dutch neurofibromatosis type 1 children (7-17 years) using teacher questionnaires was analyzed to determine the impact of neurofibromatosis type 1 on school performance. In all, 75% of the neurofibromatosis type 1 children performed more than 1 standard deviation below grade peers in at least one of the domains of spelling, mathematics, technical reading or comprehensive reading. Furthermore, neurofibromatosis type 1 children had a 4-fold increased risk for attending special education and a 6-fold increased risk for receiving remedial teaching for learning, behavior, speech, or motor problems. Children without apparent learning disabilities still frequently displayed neuropsychological deficits. Only 10% of the children did not show any school-functioning problems. Finally, it was found that the clinical severity of neurofibromatosis type 1 correlated with the cognitive deficits. Taken together, it was shown that neurofibromatosis type 1 has profound impact on school performance. Awareness of these problems may facilitate timely recognition and appropriate support.

Infected Intraparenchymal Dermoids: An Underestimated Entity

2008-09-30

Infection secondary to a dermal sinus most commonly occurs in the form of cutaneous, epidural, or subdural abscesses. Rarely, it can result in an intramedullary abscess as a result of a dermal sinus. This study presents a clinicoradiological profile of 19 cases harboring abscesses within the dermoids and highlights the importance of dermal sinus acting as a pathway for infections to enter the nervous system. Emergent exploration, pus drainage, and minimal abscess wall excision along with prolonged antibiotic administration remained the management of choice in all cases. Methicillin-sensitive Staphylococcus aureus was the commonest offending organism. In all, 7 patients recovered to normal neurological status, 5 showed no improvement, and 7 improved partially. Improvement in motor power was noted, albeit partially, but bladder functions failed to recover even at long-term follow-up. Even when such infective complications of dermal sinuses are rare, these are potentially serious and disabling.

Validation of the Presence of Comorbidities in a Danish Clinical Cohort of Children With Tourette Syndrome

Mol Debes, N. M. M., Hjalgrim, H., Skov, L. — 2008-09-30

Tourette syndrome (TS) is characterized by the presence of motor and vocal tics and is often accompanied by comorbid symptoms. We assessed the frequency of the comorbid symptoms obsessive-compulsive disorder obsessive-compulsive disorder, attention-deficit hyperactivity disorder (ADHD), rage attacks, sleeping disturbances, and depressive symptoms in a Danish clinical cohort of 314 children with TS using validated diagnostic instruments. For the assessment of symptoms of seasonal affective disorder and stuttering, we used a nonvalidated systematic interview. In total, only 10.2% of the children did not have any comorbid symptoms at all. If ADHD and/or obsessive-compulsive disorder were present, the rates of the comorbidities rage, symptoms of seasonal affective disorder, sleep disturbances, and depressive symptoms were significantly higher than if ADHD and/or obsessive-compulsive disorder were absent. The most severe tics were found in the group for which both ADHD and obsessive-compulsive disorder were present. Furthermore, there was a tendency toward more severe tics if other comorbid symptoms were present.

Neurologic Manifestations of Pediatric Chikungunya Infection

2008-09-30

Chikungunya virus, a mosquito-borne arbovirus, was responsible for a massive epidemic in La Réunion Island during 2005 to 2006. The disease is usually benign, but neurologic involvement, with sometimes fatal outcome, has been described. We report a retrospective hospital-based pediatric series of 30 children (23 boys and 7 girls) who presented neurologic manifestations of chikungunya such as encephalitis (n = 12), febrile seizures (n = 10), meningeal syndrome (n = 4), and acute encephalopathy (n = 4). Cerebrospinal fluid biological and cytological analyses (n = 23) were unremarkable except for 1 case of acute disseminated encephalomyelitis. The presence of viral genome in cerebrospinal fluid was inconstantly positive. Brain magnetic resonance imaging (MRI) scans (n = 14) were abnormal in 5 cases. Electroencephalography was nonspecific. Two patients died. At discharge and 6 months later, 5 children had neurologic sequelae. Patients with initial severe neurologic presentation and having pathological brain MRI had more sequelae or fatal disease.

Attitudes Toward Attention-Deficit Hyperactivity Disorder (ADHD) Treatment: Parents' and Children's Perspectives

Berger, I., Dor, T., Nevo, Y., Goldzweig, G. — 2008-09-30

Attitudes toward pharmacological treatment may be a major factor contributing to adherence to such treatment. In the current study, attitudes toward methylphenidate treatment among 50 children diagnosed with attention-deficit hyperactivity disorder (ADHD) and their parents were assessed. Authors of this study have found that the study population is concerned and suspicious toward methylphenidate treatment. Most participants were exposed to negative information even before treatment initiation, which caused many participants to consult other sources and postpone the treatment initiation. Although experiencing methylphenidate as safe and effective (after 23.5 months of treatment), the leading cause of negative attitudes is the concern regarding long-term effects. The single most effective factor regarding the attitude toward methylphenidate treatment is the neurologist's explanation. It is concluded that the pediatric neurologist has a crucial role in affecting attitudes of children and parents toward methylphenidate treatment.

Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease

Chedrawi, A. K., Ali, A., Al Hassnan, Z. N., Faiyaz-Ul-Haque, M., Wolf, B. — 2008-09-30

Biotinidase deficiency is an autosomal recessively inherited disorder that manifests during childhood with various cutaneous and neurological symptoms particularly seizures, hypotonia, and developmental delay. Spinal cord disease has been reported rarely. We describe a 3-year-old boy with profound biotinidase deficiency who presented with progressive spastic paraparesis and ascending weakness in the absence of the usual characteristic neurological manifestations. Supplementation with biotin resulted in resolution of paraparesis with persistent mild spasticity in the lower limbs. DNA mutation analysis revealed that he was homozygous for a novel missense mutation (C>T1339;H447Y) in the BTD gene. This case indicates that biotinidase deficiency should be included in the differential diagnosis of subacute myelopathy and emphasizes the importance of a prompt diagnosis to prevent irreversible neurological damage.

Use of Intravenous Tissue Plasminogen Activator in a 16-Year-Old Patient with Basilar Occlusion

Heil, J. W., Malinowski, L., Rinderknecht, A., Broderick, J. P., Franz, D. — 2008-09-30

Intravenous tissue plasminogen activator (t-PA) is currently approved by the US Food and Drug Administration (FDA) for the treatment of ischemic stroke in patients > 18 years of age who present within 3 hours of stroke onset and meet certain criteria. We report a case of a 16-year-old, previously healthy female who presented with a basilar artery occlusion and pontine ischemic stroke. She was treated with intravenous t-PA approximately 4 hours after the onset of symptoms. The patient demonstrated a remarkable recovery 6 hours after onset of her symptoms and had minimal deficits on discharge from the hospital 1 week later. She was found to have a lupus anticoagulant and was heterozygous for the prothrombin gene G2010A mutation. These were likely contributing causes for her stroke. She was also homozygous for plasminogen activator inhibitor 1 (PAI-1) 4G/4G, which at present is a controversial stroke risk factor.

Simultaneous Toxicities in a Child on Multiple Anticonvulsants

Delima, S. I. R., Walsh, L. E., Golomb, M. R. — 2008-09-30

It is rare to develop simultaneous toxicities while on anticonvulsants. This article presents a 31/2-year-old child on valproic acid, lamotrigine, and phenytoin who developed simultaneous hepatotoxicity and bone marrow toxicity during a parainfluenza virus type 3 infection. These toxicities resolved after the cessation of anticonvulsants, and her seizures were managed acutely with scheduled lorazepam. This article discusses the possibility that simultaneous use of valproic acid, lamotrigine, and phenytoin could give this combination of toxicities and that concurrent viral infection may increase this risk.

Divergent Ependymal Tumor (Ependymoblastoma/Anaplastic Ependymoma) of the Posterior Fossa: An Uncommon Case Observed in a Child

2008-09-30

We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy. The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings typical of an anaplastic ependymoma were detected. The immunohistochemical study confirmed our diagnostic suspicion, allowing us to establish a differential diagnosis with other entities such as medulloblastoma, medulloepithelioma, atypical rhabdoid/teratoid tumor, or metastases.

Clinical Observation of Self-Injurious Behavior Correlated With Changes in Scalp Morphology in a Child With Congenital Hydrocephalus

Hartman, E. C., Gilles, E., McComas, J. J., Danov, S. E., Symons, F. J. — 2008-09-30

We report the case of a 12-year-old girl born with cerebral dysgenesis and congenital hydrocephalus first shunted shortly after birth. She had severe tissue-damaging self-injurious behavior, profound mental retardation, quadriparesis, as well as multiple cranial anomalies including turricephaly. After stage 1 cranial remodeling, a bone window was left pending second stage remodeling. Episodic changes in fluctuation of the scalp overlying the bone window were easily observed. During the course of a behavioral assessment for her self-injury, it was observed that the overall frequency of occurrence of self-injury increased significantly (P < .01) when the scalp was protruding and bulging compared with when the scalp was flush with the skull table. Periods of increased scalp protrusion were also associated with higher scores on a pain scale developed for children with communicative impairments associated with severe neurological impairment. After shunt replacement, there was remarkable improvement in functional status and decreased episodic self-injury.

Acute Epidural Hematoma With Infarction of the Right Hemisphere in a 5-Month-Old Child: Case Report With a Long-Term Follow-Up and a Review of the Literature

Ulrich, P. T., Fuessler, H., Januschek, E. — 2008-09-30

Two hours after a fall, a 5-month-old girl was admitted to our hospital because of an extended galea hematoma and restlessness. Five hours after the trauma, a left hemiparesis developed. The child became drowsy. The hematocrit had fallen to 7.1 g/dL. Cranial computerized tomography disclosed a huge frontoparietal epidural hematoma on the right side and a hypodensity in the territories of the middle and posterior cerebral arteries. Immediately before surgery, the right pupil dilated. After evacuation of the epidural hematoma and ligation of the middle meningeal artery, the girl recovered satisfactorily. Nevertheless, magnetic resonance imaging showed a vast defect zone in the territories of the right middle and posterior cerebral arteries. Six weeks after the injury, the visual-evoked potentials were unavailable on both sides. Four years after the accident, visual assessment revealed normal acuity and stereopsis. Cognitive and neuromotor development were undisturbed and appropriate to the age.

Cryptogenic Stroke in a Boy With Atrial Septal Defect and Hyperhomocysteinemia

Indolfi, G., Bartolini, E., Trapani, S., Azzari, C., Resti, M. — 2008-09-30

In children, clinical recognition of stroke and determination of its exact etiology are extremely difficult. The authors described a case of cryptogenic stroke in a 14-year-old-boy with asymptomatic atrial septal defect and hypercoagulable state. Paradoxical embolism was hypothesized as the responsible etiopathological mechanism. It is crucial to increase clinician awareness of stroke in children.

Epstein-Barr Virus--Associated Meningoencephalomyelitis: Intrathecal Reactivation of the Virus in an Immunocompetent Child

2008-09-30

Neurologic complications, including meningoencephalitis, transverse myelitis, and peripheral neuropathy, have been reported in patients with acute infectious mononucleosis. Chronic active Epstein-Barr virus and human immunodeficiency virus infections occasionally induce central nervous system lymphoma. On the other hand, central nervous system disease alone associated with Epstein-Barr virus rarely occurs in previously healthy individuals. A 15-year-old girl who developed acute disseminated encephalomyelitis-like disease presenting fever, anuresis, diplopia, and muscle weakness is described here. Clinical and neuroimaging studies led to the diagnosis of encephalomyelitis. Despite the absence of infectious mononucleosis-like symptoms, anti-Epstein-Barr virus antibody titers in serum and cerebrospinal fluid showed the virus reactivation. The copy number of Epstein-Barr virus DNA increased in cerebrospinal fluid but not in peripheral blood. Ganciclovir and repeated methyl-prednisolone pulse therapy resulted in complete resolution. Central nervous system disease on the limited intrathecal reactivation of Epstein-Barr virus in immunocompetent children should be differentiated from acute disseminated encephalomyelitis.

Severe Ataxia as a Complication of Human Parvovirus B19 Acute Encephalitis in a Child

2008-09-30

Human parvovirus B19 generally causes erythema infectiosum in childhood, but it can be associated with unusual findings, particularly in immunocompromised patients. This is a report about an immunocompetent 4-year-old female child affected with acute encephalitis by parvovirus B19, documented by polymerase chain reaction performed on cerebrospinal fluid, who was treated with intravenous immunoglobulins and dexamethasone and who developed a cerebellar syndrome with ataxia, dysmetria, and dysarthria. To the best of the authors' knowledge, this may be the first report of human parvovirus B19 encephalitis complicated by severe ataxia in childhood.

Transient Dysautonomia and Cerebellitis in Childhood Enteric Fever

Thapa, R., Banerjee, P., Akhtar, N., Jain, T. S. — 2008-09-30

A case of childhood enteric fever complicated by transient dysautonomia and cerebellitis is reported. The child was treated with intravenous antibiotics, and the complications were managed conservatively. Dysautonomia and cerebellitis resolved by day 5 and day 8 after admission, respectively. Results of a neurologic examination at the end of 6 months were normal. Dysautonomia complicating the course of childhood enteric fever is previously unreported.

Book Review: Neurological Assessment in the First Two Years of Life. By Giovanni Cioni and Eugenio Mercuri (eds). Mac Keith Press, Tettenhal, Wolverhampton, UK, 2008. DOI: 10.1177/0883073808320757

Johnsen, S. D. — 2008-09-30

Does Ghrelin Really Increase in Epileptic Children Treated With Valproate?

Aydin, S., Dag, E. — 2008-09-30

Correspondence on "Childhood Epilepsy With Occipital Paroxysms: Difficulties in Distinct Segregation Into Either the Early-Onset or Late-Onset Epilepsy Subtypes"

Covanis, A. — 2008-09-30

Response to Correspondence on "Childhood Epilepsy With Occipital Paroxysms: Difficulties in Distinct Segregation Into Either the Early-Onset or Late-Onset Epilepsy Subtypes"

Shahar, E. — 2008-09-30

Correct Definition and Reference of the Term "Status Gelasticus"

Ng, Y.-t. — 2008-09-30

Correspondence on "Developmental Regression and Mitochondrial Dysfunction in a Child with Autism"

Poling, J. S. — 2008-09-30

Conflict of Interest Statement Concerning "Developmental Regression and Mitochondrial Dysfunction in a Child With Autism"

Frye, R. E., Zimmerman, A. W., Shoffner, J. M. — 2008-09-30

The Appalling Poling Saga

Brumback, R. A. — 2008-09-30

"Worshiping False Idols: The Impact Factor Dilemma": Correcting the Record

Pringle, J. — 2008-09-30

Response to Correspondence, "`Worshiping False Idols: The Impact Factor Dilemma': Correcting the Record"

Brumback, R. A. — 2008-09-30

Long-term Tolerability and Efficacy of Lamotrigine in Infants 1 to 24 Months Old

2008-07-25

This open-label study was designed to evaluate the long-term tolerability and efficacy of lamotrigine in 1- to 24-month-old infants with partial seizures. The study enrolled both lamotrigine-naïve patients and patients who had been previously exposed to lamotrigine in a randomized, double-blind, placebo-controlled study. Patients (n = 204) received lamotrigine according to a dosing schedule that depended on prior experience with lamotrigine and concurrent antiepileptic drug therapy for up to 48 weeks or their second birthday, whichever occurred last. Total duration of lamotrigine exposure (which included exposure during the placebo-controlled study in lamotrigine-experienced patients) was ≥24 weeks in 92% of patients, ≥48 weeks in 70% of patients, and ≥72 weeks in 20% of patients. A total of 20 (10%) patients (8 lamotrigine-naïve patients and 12 lamotrigine-experienced patients) transitioned to lamotrigine monotherapy. The most common adverse events were pyrexia (45% of patients), upper-respiratory tract infection (28%), and ear infection (22%). The only adverse event considered reasonably attributable to study medication in >2% of patients was irritability (n = 10; 5% of patients). No cases of serious rash were reported. The median percent reduction from baseline in partial seizure frequency in the sample as a whole was 74%. Seizure frequency was reduced by ≥50% from pre-lamotrigine baseline in 62% of patients in the sample as a whole, 60% of the lamotrigine-naïve subgroup, and 63% of the lamotrigine-experienced subgroup. In the sample as a whole, 13% of patients were seizure free during the Treatment Phase. Investigators considered clinical status at the last clinic visit to be improved (mildly, moderately, or markedly) relative to prelamotrigine clinical status in 76% of patients (150/197) and to be unchanged in 19% (37/197). In this study—the first large prospective investigation of the long-term tolerability and efficacy of an antiepileptic drug in a patient population 2 years and younger—lamotrigine administered for up to approximately 72 weeks was well tolerated and associated with good seizure control.

Learning Disabilities Spectrum and Sexual Dimorphic Abilities in Girls with Congenital Adrenal Hyperplasia

Inozemtseva, O., Matute, E., Juarez, J. — 2008-07-25

Congenital adrenal hyperplasia could provide a promising model for the study of the effects of hormones on cognition. The aim of this study was to assess sexual dimorphic abilities related to oral language, spatial abilities, and verbal fluency and to determine the existence of learning disabilities in 11 congenital girls with adrenal hyperplasia compared with 11 healthy girls. Both groups underwent a neuropsychological evaluation using the Child Neuropsychological Assessment battery for Spanish-speaking children. Results showed that the congenital adrenal hyperplasia group had a significantly lower performance than the control group in the repetition and expression domains, right–left comprehension task, and verbal semantic fluency task. A higher incidence of learning disabilities (predominantly reading related) in the patient group compared with their controls was also evident. Thus, the presence of weak verbal areas along with a high incidence of learning disabilities related primarily, though not exclusively, to reading was documented in these girls.

Neurological and Magnetic Resonance Imaging Findings in Children With Developmental Language Impairment

2008-07-25

Neurologic and radiologic findings in children with well-defined developmental language impairment have rarely been systematically assessed. Children aged 7 to 13 years with developmental language impairment or normal language (controls) underwent language, nonverbal cognitive, motor and neurological assessments, standardized assessment for subtle neurological signs, and magnetic resonance imaging. Nine children with developmental language impairment and 12 controls participated. No focal abnormalities were identified on standard neurological examination. Age and developmental language impairment were independent predictors of neurological subtle signs scores (r² = 0.52). Imaging abnormalities were identified in two boys with developmental language impairment and no controls (P = .17). Lesions identified were predicted neither by history nor by neurological examination. Previously unsuspected lesions were identified in almost 25% of children with developmental language impairment. Constraints regarding cooperation and sedation requirements may limit the clinical application of imaging modalities in this population.

Incidence of Epilepsies and Epileptic Syndromes Among Children in Navarre, Spain: 2002 Through 2005

Dura-Trave, T., Yoldi-Petri, M. E., Gallinas-Victoriano, F. — 2008-07-25

All incident cases of children living in Navarre, Spain, younger than 15 years of age with newly diagnosed epilepsy (2002-2005) were registered in a prospective study, with epidemiologic and clinical data and complementary study results collected. Based on International League Against Epilepsy criteria, 191 patients were diagnosed as having epilepsy. The overall incidence rate is 62.6 cases per 100 000, with the highest incidence (95.3 cases per 100 000) during the first year of life. Fifty-five percent of patients have focal epilepsies, 42.9% generalized epilepsies, and 2.1% undetermined epilepsies. Among infants, West syndrome (45.5%), epilepsies associated with specific syndromes (27.3%), and focal symptomatic epilepsies (13.6%) are the most prevalent syndromes. In early childhood, the main syndromes are focal symptomatic (22.7%) and cryptogenic (21.2%) epilepsies and Doose syndrome (13.6%). Among school-aged children, focal benign epilepsies (27.8%) and cryptogenic and absence epilepsies (18.5% for both) are the most prevalent, with focal cryptogenic epilepsies (26.5%) and benign epilepsies (18.4%) most prevalent among adolescents.

Health Care Utilization and Expenditures for Children and Young Adults With Muscular Dystrophy in a Privately Insured Population

Ouyang, L., Grosse, S. D., Kenneson, A. — 2008-07-25

We provide estimates of medical care utilization and expenditures for children and young adults younger than age 30 with muscular dystrophies in the United States. Accurate estimates are essential for calculations of lifetime costs and for economic evaluations of screening and management strategies for muscular dystrophy. We compare the medical expenditures for persons with muscular dystrophy with others by age groups. The incremental annual expenditures of medical care for privately insured individuals with muscular dystrophy relative to others in 2004 averaged $18 930 and ranged from $13 464 at ages 5 to 9 to $32 541 at ages 15 to 19. Individuals with muscular dystrophy had average medical expenditures 10 to 20 times greater than individuals without muscular dystrophy. Individuals aged 15 to 19 years had the highest number of inpatient admissions related to respiratory infections and cardiac complications. The findings underscore the need for appropriate treatment options for individuals with muscular dystrophy as they age.

Decompressive Hemicraniectomy in Children With Severe Ischemic Stroke and Life-Threatening Cerebral Edema

Ramaswamy, V., Mehta, V., Bauman, M., Richer, L., Massicotte, P., Yager, J. Y. — 2008-07-25

Decompressive hemicraniectomy has been discussed as a treatment option that increases survival in adults with malignant stroke. This approach has not been studied extensively in children. From a prospective cohort, we identified 4 children who underwent decompressive hemicraniectomy for malignant infarctions with life-threatening cerebral edema within 72 hours of their stroke. All 4 children had different causes for their stroke and experienced severe cerebral edema with increasing intracranial pressure and an impending fatal outcome. Despite massive cerebral infarction, all patients were ambulant and able to speak at the time of follow-up. Although a limited experience, decompressive hemicraniectomy is a life-saving approach for malignant stroke in children.

Ataxia With Oculomotor Apraxia Type 1 (AOA1): Clinical and Neuropsychological Features in 2 New Patients and Differential Diagnosis

2008-07-25

Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. Ocular apraxia is most prominent in the early stage of the disease, by contrast, hypoalbuminemia, hypercholesterolemia, and cognitive impairment are present in the adult stage. AOA1 is caused by a mutation in the APTX gene (9p13.3) encoding a nuclear protein named aprataxin, which is involved in the mechanism of DNA repair. We report here the clinical features of 2 patients with mutations in the APTX gene, and we discuss the differential diagnosis with other forms of hereditary ataxia.

Expanding the Neurologic Phenotype of Oculodentodigital Dysplasia in a 4-Generation Hispanic Family

2008-07-25

We report a 4-generation Hispanic family with oculodentodigital dysplasia whose members were found to have typical phenotypic characteristics of this disorder, as well as a variable expression of neurologic manifestations in multiple generations ranging from a mild spastic gait to moderate to severe spastic tetraparesis/quadriplegia with epilepsy and an abnormal brain and spinal cord magnetic resonance imaging result. Gene testing documented a previously reported missense mutation in GJA1 (connexin 43) exon 2 (c.389T>C;p.I130T). Our evaluation not only expands the phenotypes associated with GJA1 gene mutations but also demonstrates that a great degree of variability in neurological defects can exist within a single family without evidence of genetic anticipation. A genotype-phenotype correlation between the p.I130T mutation and neurologic dysfunction appears more likely with the addition of this report's neurologic and GJA1 gene mutation findings. These findings expand the neurologic phenotype and prognosis and underscore the importance of counseling families with oculodentodigital dysplasia about the possibility of neurologic involvement.

Outcome of Cerebellar Injury in Very Low Birth-Weight Infants: 6 Case Reports

Bednarek, N., Akhavi, A., Pietrement, C., Mesmin, F., Loron, G., Morville, P. — 2008-07-25

Cerebellum injury is a severe and underestimated complication in very low birth-weight infants. Six cases of extreme premature babies are reported: 3 of them died during the neonatal period; the other 3 survived with severe neurological disabilities. Microcephaly, strabismus, and severe developmental delay without major motor handicap are very peculiar for the preterm in the long-term outcome. Easy diagnosis is possible by specific ultrasound windows and early diagnosis is required regarding the possible severe prognosis and to organize precisely the follow-up.

Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene

Sartori, S., Anesi, L., Polli, R., Toldo, I., Casarin, A., Drigo, P., Murgia, A. — 2008-07-25

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, absence of speech, seizures, abnormal electroencephalography (EEG), and happy disposition. The syndrome results from lack of function of the maternal copy of the UBE3A gene on the imprinted Prader-Willi/Angelman syndrome critical region; it is caused by large deletions, paternal uniparental disomy, imprinting center defects or UBE3A deletions, and point mutations. We found a novel splice-site mutation of the UBE3A gene in a child with clinical and EEG features of Angelman syndrome. This case further points out the fact that individuals with Angelman syndrome and mutations of the UBE3A gene have a phenotype that tends to be rather mild, however, undistinguishable, both from the clinical and the electrophysiological points of view, from the Angelman syndrome phenotype due to other known molecular mechanisms.

Megalencephaly, Polymicrogyria, and Hydrocephalus (MPPH) Syndrome: A New Case With Syndactyly

Pisano, T., Meloni, M., Cianchetti, C., Falchi, M., Nucaro, A., Pruna, D. — 2008-07-25

Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is characterized by megalencephaly, perisylvian polymicrogyria, postaxial polydactyly, and hydrocephalus. Seven cases have been reported. This report presents a new sporadic patient with megalencephaly, polymicrogyria, and hydrocephalus syndrome, a girl born to healthy, nonconsanguineous parents at 38 weeks. Macrocephaly (+4 standard deviation) was present at birth. She had syndactyly instead of the postaxial polydactyly reported in the other patients. Neurologic examination showed severe diffuse hypotonia and profound developmental delay. Magnetic resonance imaging revealed enlarged lateral and third ventricles, with cavum septi pellucidi et vergae, bilateral abnormal white matter intensity, and diffuse polymicrogyria, most prominent in both the frontal and perisylvian regions. A visual evoked potential study showed increased latencies, probably caused by white matter abnormalities. At 16 months, she has never had seizures and shows profound psychomotor retardation. Results of metabolic and genetic studies were normal.

Is Head Balance a Major Determinant for Swallowing Problems in Patients With Spinal Muscular Atrophy Type 2?

van den Engel-Hoek, L., de Swart, B. J. M., Erasmus, C. E., de Groot, I. J. M. — 2008-07-25

A child with spinal muscular atrophy type 2 was referred for evaluation of eating and swallowing problems. The dysphagia evaluation demonstrated coughing during eating and drinking and occasionally stertorous when eating solid food. The videofluoroscopic swallow study showed a late upper esophageal sphincter opening with hypopharyngeal residue, more with solid food than with thin liquid. His lumbar lordosis associated with anterior tilted pelvis and his problems with head balance due to weak neck musculature caused compensatory behavior like a retracted neck and mandible. This position negatively influences the opening of the upper esophageal sphincter. This case supported the idea that dysphagia in spinal muscular atrophy type 2 is caused by both a bulbar component as well as a treatable posture component.

Choroid Plexus Hyperplasia and Monosomy 1p36: Report of New Findings

2008-07-25

Monosomy 1p36 is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. It is now considered to be one of the most common subtelomeric micro-deletion syndromes. This article reports new findings of choroid plexus hyperplasia and dextrocardia with situs solitus in a patient who had deletion of chromosome 1p26.33 with a brief review of the literature.

Giant Infantile Gliosarcoma: Magnetic Resonance Imaging Findings

Sanal, H. T., Bulakbasi, N., Kocaoglu, M., Onguru, O., Chen, L. — 2008-07-25

Gliosarcoma is an uncommon variant of glioblastoma multiforme, which is composed of gliomatous and sarcomatous elements. The tumor is rarely encountered in childhood. This case report presents the magnetic resonance imaging characteristics of a giant gliosarcoma in a 3-year-old girl. Size and location of the tumor are described.

Homozygous Myotonic Dystrophy With Craniosynostosis

Cerghet, M., Tapos, D., Serajee, F. J., Mahbubul Huq, A. H. M. — 2008-07-25

Myotonic dystrophy is considered a true dominant condition with no difference in the phenotype between heterozygous and homozygous cases. The homozygous state is very rare and only a few patients have been reported in the literature. We report a 2.5-year-old boy from a nonconsanguineous marriage, with a unique combination of clinical and radiological findings: hypotonia, motor and language developmental delay, ventriculomegaly, subcortical white matter lesions, and craniosynostosis. Mutation analysis revealed 2 copies of expansion mutation of 1260 and 60 cytosine-thymine-guanine repeats in the myotonic dystrophy protein kinase gene. Both the mildly symptomatic (434 repeats) mother and the asymptomatic (37 repeats) father are heterozygous. Craniosynostosis has not been reported previously in myotonic dystrophy. This homozygous case expands the clinical spectrum of myotonic dystrophy type 1 and provides support to the hypothesis that myotonic dystrophy type 1 pathophysiology could be, in part, due to the loss of normal function of the wild-type protein.

Infected Lumbar Dermoid Cyst Presenting With Tetraparesis Secondary to Holocord Central Lesion

Tufan, K., Cekinmez, M., Sener, L., Erdogan, B. — 2008-07-25

We report an unusual case of a 6-year-old boy with a sinus tract terminating with an intramedullary dermoid cyst and holocord central lesion, presenting with tetraparesis secondary to intramedullary abscess. Total excision of dermal sinus tract, dermoid cyst, and the intramedullary abscess by means of a L2–S3 laminectomy, followed by antibiotic therapy resulted in good functional recovery. Strengths of the upper extremities have fully recovered, and a remarkable improvement was detected in the muscles of the lower extremities. Postoperative magnetic resonance imaging (MRI) of the spine showed complete removal of the dermoid cyst, decreased inflamed granulation tissue over the medullary conus, and disappearance of the holocord high intensity lesion. The pathomechanism of holocord central lesion is discussed herein.

Progressive Leukoencephalopathy Associated With Aluminum Deposits in Myelin Sheath

Itoh, M., Suzuki, Y., Sugai, K., Ozuka, N., Ohsawa, M., Otsuki, T., Goto, Y.-i. — 2008-07-25

A 20-year-old woman with progressive leukoencephalopathy developed mental and motor disabilities and fell into a coma after suffering head trauma and febrile episodes from infancy. Brain imaging showed massive abnormal signals in the white matter. The electron spectroscopic imaging of biopsied brain tissue confirmed the electron-dense deposits to be associated with aluminum accumulation in the myelin sheath. Her brain pathology, which showed ferritin- and naphtochrome green-positive deposits, supported the imaging analysis. The clinicopathological features indicate a new form of progressive leukoencephalopathy.

A Case of Pediatric Tumefactive Demyelinating Lesion Misdiagnosed and Treated as Glioblastoma

2008-07-25

Because of their clinical and neuroradiological features, tumefactive demyelinating lesions, or giant plaques, are easily mistaken for tumors, with a consequent risk of gross errors in the choice of treatment. This article reports a 10-year-old girl who underwent surgery for a left parietal lesion misinterpreted as a glioblastoma which subsequently proved to be a case of giant plaque.

An Unusual Manifestation of a Neonatal Chlamydia Infection

Bertsche, A., Wagner, M. H., Bollmann, R., Obladen, M., Felderhoff-Mueser, U. — 2008-07-25

A 25-day-old boy was admitted to hospital because of pneumonia and additionally developed symptoms of encephalitis. The immune fluorescence test for Chlamydia trachomatis in tracheal fluids was positive. Furthermore, ligase chain reaction for C trachomatis was positive in the cerebrospinal fluid. The antibiotic regimen was changed to erythromycin intravenously. C trachomatis encephalitis is rare in neonates and may result from a defect in the alternative pathway of complement activation which was the case in this patient.

Like Father, Like Son: Periventricular Nodular Heterotopia and Nonverbal Learning Disorder

2008-07-25

Periventricular nodular heterotopia is a common malformation of cortical development in which the migration of developing neurons destined for the cerebral cortex is abbreviated. Bilateral periventricular nodular heterotopia is most commonly an X-linked disorder that involves mutations in the filamin A (FLNA) gene, but an autosomal recessive form and sporadic forms have been identified. To our knowledge, autosomal dominant transmission of isolated periventricular nodular heterotopia has not been reported. Periventricular nodular heterotopia has a heterogeneous phenotype, associated commonly with seizure disorder, and more recently with reading deficits and visual-spatial deficits in some patients. We present a father and son with bilateral periventricular nodular heterotopia and similar visual–spatial learning deficits, consistent with nonverbal learning disability.

Intracranial Hypertension in 2 Children With Marfan Syndrome

2008-07-25

Two unrelated children with Marfan syndrome presented with recurrent intracranial hypertension. Both children complained of headache, nausea, and vomiting and one of them had papilledema. Both had increased cerebrospinal fluid pressure, and their complaints disappeared after lumbar puncture. Although severe headache has been reported in Marfan syndrome due to intracranial hypotension, this is to our knowledge the first report of intracranial hypertension in Marfan patients.

Resolution of Brachial Plexus Palsy Due to Hemangioma After Intravenous Corticosteroid Therapy

2008-07-25

The authors report a 7-day-old girl born with a hemangioma involving the right side of the scalp and neck who developed ipsilateral brachial plexus palsy at 5 days of age. Imaging studies confirmed the presence of a cavernous hemangioma in the vicinity of the brachial plexus. She was treated with intravenous corticosteroids and her palsy resolved in 5 days. Only 1 prior case of hemangioma producing brachial plexus palsy has been reported; this patient was not treated with corticosteroids and had a partial recovery. The authors believe that the quick recovery after initiating systemic steroids was due to relief of nerve compression (neuropraxia) resulting from shrinkage of the cavernous hemangioma. The purpose of this article is to describe an uncommon cause of neonatal brachial plexus palsy and to report the effectiveness of early intravenous corticosteroid treatment in a patient with brachial plexus palsy due to a cavernous hemangioma.

Hypnagogic Behavior Disorder: Complex Motor Behaviors During Wake-Sleep Transitions in 2 Young Children

Pareja, J. A., Luz Cuadrado, M., Garcia-Morales, I., Gil-Nagel, A., Franch, O. — 2008-07-25

A nondescribed behavioral disorder was observed during wake–sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic—and occasionally hypnopompic—periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which could be either gentle or violent but never made the children get out of bed. They lasted from a few seconds to 2 hours and were associated with poor reactivity and amnesia of the events. Electroencephalography (EEG) recordings showed wake-state features, with brief bursts of hypnagogic hypersynchrony, and did not display seizure activity. A distinctive behavior disorder occurring during wake–sleep transitions with a wake EEG pattern has been identified in very early childhood. The clinical profile does not fit any of the known parasomnias and might belong to a new category of parasomnia.

Griscelli Syndrome Type 2: A Rare and Lethal Disorder

2008-07-25

Griscelli syndrome is a rare autosomal recessive disorder. It is characterized by pigment dilution and variable immune deficiency leading to increased susceptibility to certain infections and a tendency to develop a life-threatening hemophagocytic syndrome known as the accelerated phase. Griscelli syndrome is now classified into 3 types based on the genetic and molecular features. Primary neurological presentation without the accelerated phase is rare in type 2. In this article, the authors report a boy who was presented with seizures and diffuse white matter involvement unaccompanied by the other features of the accelerated phase. Mutation analysis in family members revealed the presence of a missense mutation in Rab27a gene. In addition to the rare presentation, this is the first case of Griscelli syndrome to be reported from Jordan.

Reviews of Infant Botulism at Childrens Hospital Los Angeles

Mitchell, W. G., Tseng-Ong, L. — 2008-07-25

Lumbar Punctures: Always Use a Stylette

Bernard, P. A. — 2008-07-25

Response to Correspondence, "Lumbar Punctures: Always Use a Stylette"

Per, H. — 2008-07-25

Amplitude-Integrated Electroencephalography (EEG) for Outcome Prediction in Hypoxic-Ischemic Encephalopathy: Errors in Meta-analysis

Thayyil, S., Omar, R., Robertson, N. — 2008-07-25

Response to Correspondence on "Amplitude-Integrated EEG Is Useful in Predicting Neurodevelopmental Outcome in Full-Term Infants with Hypoxic-Ischemic Encephalopathy: A Meta-Analysis"

Spitzmiller, R. E., Phillips, T., Meinzen-Derr, J., Hoath, S. B. — 2008-07-25

Factors Facilitating Retrograde Cerebral Venous Air Embolism

Schlimp, C. J., Lederer, W. — 2008-07-25

Response to Correspondence, "Factors Facilitating Retrograde Cerebral Venous Air Embolism"

Buompadre, M. C., Arroyo, H. A. — 2008-07-25

A Never Ending Saga: The Mercury and Autism Articles by Ip et al

Brumback, R. A. — 2008-07-24

Is Cerebral Palsy a Wastebasket Diagnosis?

Sanger, T. D. — 2008-07-24

Morphometric MRI Findings in the Thalamus and Brainstem in Children After Moderate to Severe Traumatic Brain Injury

2008-07-24

Generalized whole brain volume loss is well documented in moderate to severe traumatic brain injury. Whether this atrophy occurs in the thalamus and brainstem has not been systematically studied in children. Magnetic resonance imaging (MRI) quantitative analysis was used to investigate brain volume loss in the thalamus and brainstem in 16 traumatic brain injury subjects (age range 9-16 years) compared with 16 age and demo-graphically matched controls. Based on multiple analysis of covariance, controlling for age and head size, reduced volume in the thalamus and the midbrain region of the brainstem were found. General linear model analyses revealed a relation between processing speed on a working memory task and midbrain and brain stem volumes. Reduced volume in thalamic and brainstem structures were associated with traumatic brain injury. Reduction in midbrain and thalamic volume is probably a reflection of the secondary effects of diffuse axonal injury and reduction in cortical volume from brain injury.

Pediatric Sciatic Neuropathies Due to Unusual Vascular Causes

Srinivasan, J., Escolar, D., Ryan, M., Darras, B., Jones, H. R. — 2008-07-24

Four cases of pediatric sciatic neuropathies due to unusual vascular mechanisms are reported. Pediatric sciatic neuropathies were seen after umbilical artery catheterization, embolization of arteriovenous malformation, meningococcemia, and hypereosinophilic vasculitis. Electrophysiologic studies demonstrated abnormalities in motor studies of peroneal and tibial nerves. Sensory studies demonstrated abnormalities of sural and superficial peroneal nerves. Results of needle electromyography were abnormal in sciatic-innervated muscles. Prognosis was variable and depended on the severity of the initial nerve injury.

Neurologic Findings in Infants With Deformational Plagiocephaly

2008-07-24

This study evaluates the neurologic profiles of infants with deformational plagiocephaly. Forty-nine infants with deformational plagiocephaly between the ages of 4 and 13 months (mean age, 8.1 months) are evaluated, along with 50 age-matched control subjects (mean age, 8.1 months). A modified version of the Hammersmith infant neurologic assessment was performed on each infant. A caregiver completed a questionnaire regarding the infant's prematurity, development, and health to date. Results are analyzed using t test. There is a statistically significant difference in overall neurologic assessment scores of infants with deformational plagiocephaly vs their healthy peers (P = .002). This difference is predominately in tone, whereby infants with deformational plagiocephaly have significantly more abnormal tone than nonplagiocephalic infants (P = .003). This abnormality is not one of decreased tone but one of variable tone, deflecting abnormally high and low tone. Infants with deformational plagiocephaly are more likely to have altered tone but not exclusively decreased tone.

Fidelity of Gamma-Glutamyl Transferase (GGT) in Differentiating Skeletal Muscle From Liver Damage

2008-07-24

This study tested the hypothesis that gamma-glutamyl transferase (GGT) can be used as a reliable biomarker to distinguish skeletal muscle from liver damage. Twenty-eight Duchenne muscular dystrophy subjects with proven dystrophin gene mutations were enrolled. Included were 14 ambulatory and 14 nonambulatory patients with approximately half of each cohort taking corticosteroids. Twenty normal males served as controls. Initial blood samples for serum GGT and creatine kinase were taken between 8AM and 9AM and redrawn 8 hours later to test for variability. Between blood draws, subjects resumed normal activities in a play environment or could leave the clinic. Not a single duchenne muscular dystrophy patient showed a GGT outside the control range at any time point, while creatine kinase levels were 14 to 200 times normal. Validation of this finding is essential for management of patients with muscle disorders exposed to potentially hepatotoxic drugs for clinical management or monitoring subjects participating in clinical trials.

Simultaneous Guillain-Barre Syndrome and Acute Disseminated Encephalomyelitis in the Pediatric Population

Bernard, G., Riou, E., Rosenblatt, B., Dilenge, M.-E., Poulin, C. — 2008-07-24

Few cases of simultaneous acute demyelination of the peripheral and central nervous systems are reported. Four patients diagnosed as having Guillain-Barré syndrome and acute disseminated encephalomyelitis during the same hospitalization are described herein. Two patients manifest an atypical form of Guillain-Barré syndrome, with magnetic resonance imaging of the head showing acute disseminated encephalomyelitis. A third patient has acute disseminated encephalomyelitis and develops Guillain-Barré syndrome during his hospitalization. A fourth patient demonstrates transverse myelitis that evolves into Guillain-Barré syndrome, with demyelination seen on brain magnetic resonance imaging. All patients are treated with intravenous immunoglobulins or corticosteroids. Three patients have a favorable outcome; 1 patient has a chronic inflammatory demyelinating polyradiculoneuropathy. Guillain-Barré syndrome and acute disseminated encephalomyelitis can occur simultaneously in the pediatric population. This may be explained by a shared epitope between peripheral and central nervous system myelin. Further research is necessary to better describe this entity and its prognosis.

Management and Risk Factors for Dyslipidemia With the Ketogenic Diet

Nizamuddin, J., Turner, Z., Rubenstein, J. E., Pyzik, P. L., Kossoff, E. H. — 2008-07-24

A prospective study was performed of all children started on the ketogenic diet at our institution for intractable epilepsy from January 2003 to March 2007 (n = 137), examining for baseline and follow-up total cholesterol and triglyceride levels. Interventions for dyslipidemia were analyzed for their effectiveness. At baseline, 25% of children had hypercholesterolemia (>200 mg/dL), which increased to 60% for those receiving the ketogenic diet. Children receiving a solely formula-based ketogenic diet were less likely to have hypercholesterolemia than those eating solid food after adjusting for age and initial ketogenic ratio (P < .001). Only a slightly higher likelihood of a 20% decrease in cholesterol occurred for those children in whom a dietary intervention was made compared with observation alone (60% vs 41%; P = .11). Hypercholesterolemia occurs in most children receiving a solid food based ketogenic diet but improved in approximately half, even without interventions.

Feasibility and Clinical Utility of Early Electroencephalogram (EEG) in Children With First Seizure

Hamiwka, L., Singh, N., Kozlik, S., Wirrell, E. — 2008-07-24

The feasibility and clinical utility of early electroencephalogram (within 48 hours) was studied in 127 children (age, 1 month-17 years) referred for a "first seizure." The electroencephalogram was considered late after 48 hours. Electroencephalogram abnormalities were classified as nonepileptiform or epileptiform. Children were classified as having an "epileptic" or "nonepileptic" event. An early electroencephalogram was obtained in 23 (18%). Late referral (n = 36), weekend event (n = 23), difficulty contacting families (n = 11), parental schedules (n = 9), and laboratory scheduling (n = 11) resulted in late electroencephalograms. All 94 children with an epileptic event had an electroencephalogram, 19 (20%) within 48 hours. Results were abnormal in 9 (47%) early (7 epileptiform, 2 nonepileptiform) and 35 (44%) late (30 epileptiform, 5 nonepileptiform). Increased abnormalities were not seen with early electroencephalography (P = .50). Early electroencephalograms may not be feasible in the pediatric population and did not show a higher yield of abnormalities.

1H-Magnetic Resonance Spectroscopy Markers of Cognitive and Language Ability in Clinical Subtypes of Autism Spectrum Disorders

2008-07-24

This study assessed metabolic functioning of regional brain areas to address whether there is a neurometabolic profile reflecting the underlying neuropathology in individuals with autism spectrum disorders, and if varied profiles correlate with the clinical subtypes. Thirteen children (7-16 years) with autism spectrum disorders and 8 typically developing children were compared on ¹H-magnetic resonance spectroscopy data collected from hippocampus-amygdala and cerebellar regions. The autism spectrum disorder group had significantly lower N-acetyl-aspartate/creatine ratios bilaterally in the hippocampus-amygdala but not cerebellum, whereas myo-inositol/creatine was significantly increased in all measured regions. Choline/creatine was also significantly elevated in the left hippocampus-amygdala and cerebellar regions of children with autism spectrum disorder. Comparisons within the autism spectrum disorder group when clinically subdivided by history of speech delay revealed significant metabolic ratio differences. Magnetic resonance spectroscopy can provide important information regarding abnormal brain metabolism and clinical classification in autism spectrum disorders.

Attention-Deficit Hyperactivity Disorder (ADHD): Does New Research Support Old Concepts?

Furman, L. M. — 2008-07-24

Objective: To examine the evidence for and against the classification of attention-deficit hyperactivity disorder (ADHD) as a valid disease entity, as defined by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV ), criteria. Data Sources: Sources included but were not limited to published literature on ADHD accessed via PubMed (http://www.ncbi.nlm.nih.gov/PubMed/). Study Selection: Peer-reviewed research, review articles, consensus statements, "white papers," and proceedings of professional meetings were used. Data Extraction: Focused on evidence base and scientific validity of conclusions. Data Synthesis: Evidence for a genetic or neuroanatomic cause of ADHD is insufficient. Experimental work shows that executive function deficits do not explain ADHD. The psychometric properties of widely used ADHD rating scales do not meet standards expected for disease identification. Conclusions: ADHD is unlikely to exist as an identifiable disease. Inattention, hyperactivity, and impulsivity are symptoms of many underlying treatable medical, emotional, and psychosocial conditions affecting children.

Atypical Presentations of Benign Childhood Epilepsy With Centrotemporal Spikes: A Review

Kramer, U. — 2008-07-24

Benign childhood epilepsy with centrotemporal spikes is the most common epileptic syndrome in childhood. Atypical forms of benign childhood epilepsy with centrotemporal spikes are common. The different atypical forms of the condition are believed to represent a continuum of the same underlying genetic mechanism. The atypical forms of benign childhood epilepsy with centrotemporal spikes include electrical status epilepticus in slow waves sleep, Landau-Kleffner syndrome, status epilepticus of benign childhood epilepsy with centrotemporal spikes, "classic" atypical form, and others. This review delineates the different forms with emphasis on the cognitive hazards of the more malignant types.

Pediatric Functional Magnetic Resonance Imaging (fMRI): Issues and Applications

O'Shaughnessy, E. S., Berl, M. M., Moore, E. N., Gaillard, W. D. — 2008-07-24

Functional magnetic resonance imaging (fMRI) represents a useful tool for studying brain functions and the neural basis of cognition in healthy children and in those in disease states. Functional magnetic resonance imaging is a relatively new use of existing magnetic resonance imaging technology that allows scientists and practitioners to observe the brain at work. It is based on the observation that local increases in blood flow are related to neural activity. This review considers principles of functional magnetic resonance imaging, issues relevant to imaging children, and research using functional magnetic resonance imaging to examine cognitive processing in pediatric populations. The focus is specifically on language studies to review strengths, limitations, and practical applications of this technology with children. Future directions for functional magnetic resonance imaging are presented.

Deletion 2q37: An Identifiable Clinical Syndrome With Mental Retardation and Autism

2008-07-24

Terminal deletion of the long arm of chromosome 2 is a rare chromosomal disorder characterized by low birth weight, delayed somatic and mental development, craniofacial defects, short neck, heart and lung congenital defects, and autistic features. We report on a girl with 46,XX.ish del(2)(q37.1) de novo karyotype, mental retardation, dysmorphic features, gastrointestinal anomalies, and autistic traits and compare her clinical manifestations with patients with the same deletion previously described in literature.

Juvenile Huntington Disease Exacerbated by Methylphenidate: Case Report

Waugh, J. L., Miller, V. S., Chudnow, R. S., Dowling, M. M. — 2008-07-24

The authors describe the case of an 8-year-old boy, otherwise healthy, who presented with symptoms consistent with attention-deficit hyperactivity disorder (ADHD) and was started on a trial of methylphenidate. Within 4 weeks, he experienced a rapid decline in fine motor skills, with dysarthria, intention tremor, motor impersistence, and diffusely increased tone. Symptoms persisted despite cessation of methylphenidate. At that time, a paternal history of Huntington disease was disclosed. Molecular analysis revealed an expansion in CAG repeats to 75 copies, within the range characteristic of juvenile Huntington disease. This report raises the possibility that use of dopaminergic agonists in patients with a family history of Huntington disease may lead to clinical exacerbation of motor symptoms and/or unwitting diagnosis in an unprepared family.

Pleural Effusion: Beta-Trace Protein in Diagnosing Ventriculoperitoneal Shunt Complications

Born, M., Reichling, S., Schirrmeister, J. — 2008-07-24

Catheter dysfunction is a common complication with ventriculoperitoneal shunts. Apart from infection, obstruction, and leakage, migration of the shunt tip may cause particular problems. Pleural effusion is easily classified as a shunt complication if a transdiaphragmatic migration of a shunt can be demonstrated. If, however, the tip of the shunt is found adjacent to the diaphragm, it is difficult to decide if the effusion is caused by the ventriculoperitoneal shunt. Different diagnostic methods can be used in this situation. Below we report a case of pleural effusion—without shunt migration—which was revealed to be a shunt complication by quantifying beta-trace protein in the effusion.

Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy

2008-07-24

Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. Histologically, they show a characteristic if not homogeneous picture of nemaline rods, essential for the diagnosis. However, little is known regarding the development and progression of muscle histopathologic changes in nemaline myopathy. Results of muscle biopsies at 7 weeks of age and at 15 months of age from a child with nemaline myopathy due to a novel mutation in the ACTA1 gene are presented. The findings of the biopsies, separated by 13 months, demonstrate progression from vague cytoplasmic bodies in the first biopsy to typical nemaline rods in the second biopsy.