The authors present a 14-year-old girl with 18q– syndrome combined with cyclic vomiting syndrome. Since the age of 5 years, she has been admitted to hospital 30 times. Despite trying many prophylactic treatments, no medication has inhibited the vomiting attacks successfully. Intranasal sumatriptan was effective at halting the vomiting attacks. This is the first case of 18q– syndrome combined with cyclic vomiting syndrome successfully treated with sumatriptan. This report may allow us to consider sumatriptan use in patients suffering from misery attack of cyclic vomiting syndrome combined with chromosomal abnormality of 18q– syndrome.

Little is known about psychiatric aspects of pediatric demyelinating conditions. A total of 23 youths (6-17 years) with demyelinating conditions underwent semistructured psychiatric interviews using the Schedule for Affective Disorders and Schizophrenia for School-Age Children—Present and Lifetime Version. Adolescents and parents completed the Child Symptom Inventory-4 and the Youth’s Inventory-4. Fears and conceptions of their neurological problems were elicited. In all, 48% (n = 11) met criteria for current psychiatric diagnoses, including 27% (n = 3) with depressive disorders and 64% (n = 7) with anxiety disorders. Fears and conceptions of the illness were severe and diverse. Depressive and anxiety disorders are common in pediatric demyelinating disease. Clinicians should therefore screen for psychiatric comorbidity symptoms as part of the routine evaluation of such patients.

Previous studies in Tourette syndrome have reported lateralized abnormalities of neurotransmitters and microstructure of the cortico-striato-thalamo-cortical circuit. The authors analyzed the relationship between serotonin synthesis and microstructural changes in the subcortical structures (caudate nucleus, lentiform nucleus, and thalamus) related to this circuit, using alpha-[¹¹C]methyl-L-tryptophan positron emission tomography (PET) and diffusion tensor imaging, respectively, in 16 children with Tourette syndrome. Correlations between diffusion tensor imaging and alpha-[¹¹C]methyl-L-tryptophan PET asymmetry values were found in the caudate nucleus. The findings suggested higher serotonin synthesis on the side of more abnormal diffusion, characterized by lower fractional anisotropy and parallel diffusivity but higher perpendicular diffusivity. Altogether, these imaging abnormalities suggest asymmetric immature microstructure in the caudate nucleus associated with abnormally increased serotonin synthesis in Tourette syndrome. The observed diffusion tensor imaging changes are likely related to abnormal connectivity in the cortico-striato-thalamo-cortical circuit, which may result in cortical disinhibition and increased serotonin synthesis; this could provide a new therapeutic target.

Pallister-Killian syndrome is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome (12p). Although the clinical manifestations of Pallister-Killian syndrome are variable, the most common anomalies include craniofacial dysmorphisms, limb deformities, progressive psychomotor development delay, severe hypotonia, and epilepsy. Standard karyotype is nearly always normal, but the isochromosome (12p) is present in a high percentage of skin fibroblasts. In this article, we report the case of 2 boys with Pallister-Killian syndrome having late-onset, drug-resistant epileptic spasms. Seizures have been reported in 40% of patients with Pallister-Killian syndrome but are poorly described. Epileptic spasms are not unusual in patients with brain malformations, chromosomal aberrations, and genetic syndromes, but epileptic spasms could be easily mistaken for behavioral manifestations. A better electroclinical characterization of epileptic seizures in Pallister-Killian syndrome using appropriate polygraphic tests (video-electroencephalography, electromyography) may lead to an early diagnosis and specific treatment for this form of epileptic spasms caused by this rare syndrome.

Neurodevelopmental disabilities are collectively a common problem in child health that frequently prompts neurologic assessment and intervention. They are a group of heterogeneous conditions that share a disturbance in the acquisition of basic developmental skills in a chronologically appropriate manner. Lacking uniform diagnostic means of ascertainment, their recognition depends on fulfilling present consensus opinion regarding the various subtypes now recognized. Distinctive subtypes of neurodevelopmental disabilities can be accurately diagnosed according to present consensus conceptualization. Dual diagnosis of neurodevelopmental disabilities in the same child is possible, given present opinion. It can be expected that these conceptualizations will be dynamic and guide ongoing research efforts that will elucidate basic mechanisms, effective therapeutic interventions, and evaluate outcomes.

The authors studied the health-related quality of life of children aged 5 to 18 years with Charcot-Marie-Tooth disease of varying types and severity and compared it with the general pediatric population. To capture and compare the quality-of-life data across a broad range of ages, the Child Health Questionnaire was completed by parents of 127 children with Charcot-Marie-Tooth disease. Affected children exhibited lower physical, psychological, and social well-being than the general pediatric population, with subsequent worsening of many domains with age. The type of Charcot-Marie-Tooth disease influenced some physical and behavioral quality-of-life domains, while gender, body size, and ethnicity did not. Parent characteristics had generally little impact on the reporting of their child’s quality of life, although parents with Charcot-Marie-Tooth disease reported higher bodily pain in their children than those without. Overall, quality of life is negatively affected by the presence and severity of Charcot-Marie-Tooth disease in childhood.

Autoimmunity may have a role in autism, although the origins of autoimmunity in autism are unknown. CD4⁺CD25^high regulatory T cells play an important role in the establishment of immunological self-tolerance, thereby preventing autoimmunity. The authors are the first to study the frequency of CD4⁺CD25^high regulatory T cells in the blood of 30 autistic and 30 age- and sex-matched healthy children. Patients with autism had significantly lower frequency of CD4⁺CD25^high regulatory T cells than healthy children (P < .001). These cells were deficient in 73.3% of children with autism. Autistic patients with allergic manifestations (40%) and those with a family history of autoimmunity (53.3%) had a significantly lower frequency of CD4⁺CD25^high regulatory T cells than those without (P < .01 and P < .001, respectively). In conclusion, CD4⁺CD25^high regulatory T cells are deficient in many children with autism. Deficiency of these cells may contribute to autoimmunity in a subgroup of children with autism. Consequently, CD4⁺CD25^high regulatory T cells could be new potential therapeutic targets in these patients.

The interpretation of QT interval is often neglected during electroencephalography (EEG) reading. We compared the incidence of prolonged QT interval, as seen in the electrocardiography (ECG) recording lead of the EEG, in children presenting with seizure, syncope, or attention-deficit hyperactivity disorder (ADHD). Abnormal QT was defined as >460 ms. The incidence of prolonged QT in the seizure, syncope, and ADHD groups was 1/50 (2%), 7/50 (14%), and 2/50 (4%), respectively (P = .036, chi-square). The mean ± SD of QT were 405 ± 34, 424 ± 39, and 414 ± 36, respectively (P = .035, analysis of variance [ANOVA], syncope group, compared with seizure group). The incidence of prolonged QT as measured in the EEG was unexpectedly high in children presenting with seizure, syncope, or ADHD. These data support the concept that QT evaluation should be emphasized during routine EEG reading, as it may aid in identifying cases of undiagnosed cardiac conduction abnormalities. Prospective studies comparing EEG-ECG tracings with 12-lead ECG are warranted.

Infantile spasms (or West syndrome) occur occasionally in patients with branched-chain organic acidurias. We describe a patient diagnosed with methylmalonic aciduria at 4.5 months of age during an episode of metabolic decompensation. The child was developmentally delayed and hypotonic; his electroencephalography (EEG) showed hypsarrythmia and brain magnetic resonance imaging (MRI) demonstrated moderate abnormalities in the globi pallidi. Following the failure of vigabatrin and lamotrigine to control the spasms, hydrocortisone was introduced. Methylmalonic acid excretion increased at the onset of steroid therapy but was rapidly corrected with transient protein restriction and initiation of metronidazole therapy. Full control of spasms and hypsarrythmia permitted the discontinuation of hydrocortisone therapy a year following its initiation. Tone and development improved although the latter remained delayed. This case illustrates the importance of screening for inborn errors of metabolism in seizure disorders, and that, although challenging, the management of methylmalonic aciduria with concurrent steroid therapy is possible and beneficial.

The internal reliability and validity of the Aggregate Neurobehavioral Student Health and Educational Review parent’s questionnaire (ANSER-PQ) were evaluated. Three diagnostic groups participated: (1) attention-deficit hyperactivity disorder (ADHD; N = 100), (2) learning disability (N = 80), and (3) a combined group (N-100). The Conners' parent and teacher rating scales were completed. Seven clusters were derived as follows: conduct, anxiety, social, attention and activity, strengths, obsessive–compulsive, and distress and disruption. Internal reliability was found above 0.7 for 6 of the clusters. Concurrent validity was found highly significant for the clusters of conduct and attention and activity. Discriminant validity of these clusters was found acceptable for the attention and learning disability groups. The clusters of conduct, attention and activity, and distress and disruption were found to significantly correlate with the Conners’ teacher scale. The ANSER-PQ may be employed for the assessment of children with attention or learning disabilities.

To minimize the secondary brain damage, we analyzed the effect of cerebral perfusion pressure–orientated management and tried to find factors of clinical management and biochemical findings that influence clinical, cognitive, and psychosocial outcome. Management at intensive care unit was standardized. A standardized (short form 36 health survey) and nonstandardized split questionnaire explored long-term outcome. Glutamic-oxaloacetic-transaminase, creatine kinase MB or glucose are markers for bad outcome (P < .05). Patients with cerebral perfusion pressure values below the recommended standard for just a single occurrence had significantly worse outcome (P = .0132). Mean arterial pressure, central venous pressure, and heart rate alone do not correlate with outcome. At least 1 occurrence of mean arterial pressure and central venous pressure below the lower limits resulted in a poor outcome (P = .035). Cerebral perfusion pressure–guided therapy seems to prevent further brain damage and results in outcome scores that are comparable to those children with head trauma exhibiting symptoms of mild brain edema.

Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late-onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation, attention-deficit hyperactivity disorder [ADHD], language disorder, and delirium). Generally, these clinical pictures did not benefit from pharmacological treatment. Conversely, dietary treatment improved the symptoms. Regarding biochemical data, 2 patients showed normal ammonium but high glutamine levels. This study highlights the fact that neuropsychiatric/neurodevelopmental findings are common among the initial symptomatology of late-onset urea cycle disorders. The authors recommend that unexplained or nonresponsive neuropsychiatric/neurodevelopmental symptoms appearing during childhood or adolescence be followed by a study of ammonia and amino acid plasmatic levels to rule out a urea cycle disorder.

Charcot-Marie-Tooth disease affects foot and ankle strength from the earliest stages of the disease; however, little is known about factors influencing normal strength development or the pathogenesis of foot weakness and deformity in Charcot-Marie-Tooth disease. The authors investigated factors associated with foot and ankle strength in healthy preschool-age children and compared to age-matched cases of Charcot-Marie-Tooth disease type 1A. In healthy children, ankle dorsiflexion range of motion was one of the strongest independent correlates of foot and ankle strength. Compared with healthy children, those with Charcot-Marie-Tooth disease type 1A had significantly less dorsiflexion strength and range as well as imbalance in inversion-to-eversion and plantarflexion-to-dorsiflexion strength ratios. Given the association between ankle dorsiflexion strength and range in the healthy children, and the abnormality of these parameters in Charcot-Marie-Tooth disease, investigation of the cause-effect relationship is warranted to identify more targeted therapy and further understand the pathogenesis of foot deformity in Charcot-Marie-Tooth disease.

Desmoplastic infantile astrocytoma is a rare low-grade malignant brain tumor found in infants. Its pathological diagnosis can be made on the basis of its histological characteristics and immunohistochemical staining. A case of desmoplastic infantile astrocytoma, including its clinical manifestations, pathological characteristics, differential diagnosis, treatment, and prognosis, is reported. Presurgical percutaneous decompression and subsequent resection resulted in a satisfactory therapeutic outcome.

The objective of this study is to describe and to determine the preclinical situation and early in-clinical situation, diagnostic findings, and factors influencing the outcome of severe head trauma in children. Records of 48 children (0-16 years) were analyzed during a 3-year interval. Correlations with the outcome (Glasgow Outcome Scale) were determined by focusing on different scales, clinical findings, biochemistry, and clinical course features. The initial shock index had a major relevance (P = .0089). Systolic blood pressure (P = .0002) and bradycardia (P = .035) were important factors. Assessing the severity of trauma according to the Glasgow Coma Score, the most accurate parameter for outcome is based on the detailed quality of "eye opening" (P = .0155). Pupillary motoricity at the accident site (P = .002) and emergency room (P = .0004) are strong predictors. Preclinical measurements of stabilization and oxygenation have the same impact as the in-clinical management.

High-dose phenobarbital therapy is an effective treatment for refractory status epilepticus in children. The advantages of this therapy include milder adverse effects without limits for maximal phenobarbital levels or doses during the initial phase of treatment. However, little is known about the safety of continuing the treatment. We describe an infant with intractable epilepsy associated with bilateral Sturge-Weber syndrome who became comatose after 12/3 months of high-dose phenobarbital treatment. The patient regained consciousness as serum phenobarbital concentration decreased to below 40 µg/mL. The progression and recovery were also documented by electroencephalogram and brainstem auditory evoked potentials. The present case suggests that prolonged high-dose phenobarbital therapy may cause cerebral and brainstem dysfunction in patients with severe cerebrovascular diseases. The underlying baseline metabolic and perfusion deficit related to the disease can precipitate the neurological complication during long-term high-dose phenobarbital therapy.

To evaluate the usefulness of neuroimaging in children with idiopathic intracranial hypertension, brain magnetic resonance imaging (MRI) scans of children with idiopathic intracranial hypertension and age-matched controls were reviewed. Compared with controls, patients with idiopathic intracranial hypertension had flattening of the posterior sclera in 61% versus 40% of cases, distension of perioptic subarachnoid space in 65% versus 35%, intraocular protrusion of prelaminar optic nerve in 17% versus 0%, tortuosity of optic nerve in 30% versus 5%, and an empty sella in 26% versus 5% of cases. The presence of 3 or more of the MRI features is 95% specific in predicting idiopathic intracranial hypertension. The observed general anesthetic effect on these neuroimaging features are also minimized when multiple features are taken into account. Magnetic resonance imaging features can assist in suspecting the diagnosis of idiopathic intracranial hypertension in children, provided caution is applied when interpreting imaging performed under a general anesthesia.

The authors describe the case of a patient affected with congenital muscular dystrophy with lack of muscle -dystroglycan. Brain gross anatomy showed lissencephaly and pachygyria. Light microscopy showed heterotopias in white matter. The brain stem and cerebellum were normal. They found no expression of -dystroglycan either in the frontal cortex or in the heterotopic nuclei, while a normal expression was found in the cerebellum. These results suggest that -dystroglycan glycosylation defects may account for both the muscle disease and the brain supratentorial malformation in our patient. The authors did not identify any mutations in the genes most frequently related to these syndromes. Therefore, this case suggests that a new gene may be associated with congenital muscular dystrophy with -dystroglycan glycosylation defects, cortical migration defects, and sparing of the cerebellum.

We report the case of a 7-month-old child who presented with regression of milestones, seizures, altered sensorium, and vomiting. An elder sibling had died of similar complaints. Lead encephalopathy was considered because of presence of microcytic hypochromic anemia and dense metaphyseal bands on wrist radiogram. Magnetic resonance imaging (MRI) of the brain revealed diffuse dysmyelination involving both periventricular and subcortical white matter. Such diffuse changes have not been described previously. The child’s father was operating an illicit lead-acid battery manufacturing unit at home. The child was subjected to chelation therapy, which was accompanied by environmental exposure source modification. He showed significant improvement. Our case highlights the importance of taking a detailed occupational history and considering lead poisoning in the differential diagnosis of encephalopathy of unidentifiable cause.

Children with Angelman syndrome have an increased risk of developing a nonconvulsive status epilepticus. Although the urgency to treat nonconvulsive status epilepticus depends on the underlying illness, most clinicians and authors agree that treatment should be focused to rapidly terminate this condition. Until now, the use of levetiracetam to treat nonconvulsive status epilepticus in children is based only on some case reports. Our case further supports this treatment regime for a subgroup of children with a special risk of nonconvulsive status epilepticus and developmental delay.

This review presents the past and the present of pediatric neurology in Poland. Pediatric neurology has its roots in Polish general neurology represented by many outstanding scientists. The founder of Polish school of neurology at the end of 19th century was Edward Flatau, known as the author of Flatau’s law. The most famous Polish neurologist was Joseph Babinski, recognized for the first description of pathological plantar reflex. First Polish publication related to child neurology was Brudzinski’s report on a new meningeal symptom (the flexion of lower limbs during passive neck flexion with pain in neck). Contemporary child neurology in Poland was created by Professor Zofia Majewska after the Second World War. Now 10 academic centers of child neurology exist in Poland fulfilling educational, scientific, and therapeutic roles. Polish Society of Child Neurology was established in 1991 and now there are about 580 members, including 300 child neurologists.

We report 2 neonates with frontonasal masses. The frontonasal masses were only present while the neonates were crying. The rest of the general examination and the neurological examination of the neonates were normal. The first patient had an extensive neuroimaging evaluation that included skull radiograph, computed tomography (CT) and magnetic resonance imaging (MRI) of the brain, and ultrasound of the frontonasal mass. The second patient was evaluated with ultrasound of the frontonasal mass. The mother of the second patient had no frontonasal creases and was unable to frown. In both patients, the ultrasonographic studies revealed nonspecific soft tissue thickening in the region of the glabella only while crying. The ultrasonographic findings and the similarity between the mother’s findings and those of adult patients receiving botulinum toxin injection to the corrugator supercilii muscle point to the absence of this muscle as the cause of the frontonasal mass in these patients.

Brain abscesses are uncommon in neonates. Klebsiella pneumoniae is a very uncommon microbial agent to cause brain abscess. We report 2 infants with Klebsiella pneumoniae sepsis who developed brain abscesses. One infant was a premature neonate who required mechanical ventilation for respiratory distress syndrome and subsequently developed nosocomial sepsis and brain abscess without evidence of preceding meningitis. Another infant was a full-term neonate without risk factors for sepsis who developed seizures on the sixth postnatal day and was found to have meningitis and brain abscess. Both infants had Klebsiella pneumoniae septicemia with multiple relatively large brain abscesses that responded poorly to antimicrobial agents. These infants were managed with transfontanel drainage and prolonged courses of antimicrobial agents. Key message of this report is that Klebsiella pneumoniae brain abscess may occur in the absence of meningitis and even in the absence of any identifiable risk factors.

Metachromatic leukodystrophy is an autosomal recessive neurodegenerative lysosomal disease characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neuronal and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity but may be complicated in cases of arylsulfatase A pseudodeficiency and sphingolipid activators protein deficiency. We report the case of a 3-year-old boy who presented a severe form of late infantile metachromatic leukodystrophy. This patient was found to be homozygous for the arylsulfatase A pseudodeficiency. This condition is rare and can lead to a severe disease. Prenatal diagnosis was performed in this family, and the fetus was healthy.

Gluten-restricted diets have become increasingly popular among parents seeking treatment for children diagnosed with autism. Some of the reported response to celiac diets in children with autism may be related to amelioration of nutritional deficiency resulting from undiagnosed gluten sensitivity and consequent malabsorption. A case is presented of a 5-year-old boy diagnosed with severe autism at a specialty clinic for autistic spectrum disorders. After initial investigation suggested underlying celiac disease and varied nutrient deficiencies, a gluten-free diet was instituted along with dietary and supplemental measures to secure nutritional sufficiency. The patient’s gastrointestinal symptoms rapidly resolved, and signs and symptoms suggestive of autism progressively abated. This case is an example of a common malabsorption syndrome associated with central nervous system dysfunction and suggests that in some contexts, nutritional deficiency may be a determinant of developmental delay. It is recommended that all children with neurodevelopmental problems be assessed for nutritional deficiency and malabsorption syndromes.

Vacuum-assisted deliveries are fairly commonly used in obstetrical practice. Most newborns who have a vacuum-assisted delivery undergo extracranial birth traumas that have no residual consequences. Vacuum-assisted deliveries that complicate intracranial vascular infarction are rarely reported. We present 2 cases of intracranial vessel infarction after vacuum-assisted deliveries. One newborn, with scalp erosion, showed an unusual left middle cerebral artery infarct, and the other, with a severe subgaleal hematoma, had a venous thrombosis. Before the diagnosis, made using brain ultrasonography, neither had specific observable neurological symptoms. In conclusion, vacuum-assisted deliveries should be given special attention, especially when they are combined with a severe extracranial birth trauma.

Because a prolonged compression of the major scalp arteries blocks migraine attacks in a substantial number of patients, we studied the effect of the use of a simple handmade device in blocking an incoming headache attack in children and adolescents. Thirty-seven consecutive ambulatory patients were instructed to apply, at the onset of each migraine attack, a handmade device firmly compressing both temporal arteries. Thirteen patients interrupted treatment because of intolerance of the local pain provoked by compression of the device. Of the remaining 24 patients, 17 reported benefit from using the device and 7 no effect. In these 17 patients, the percentage of attacks aborted or attenuated by early use of the device was 90.5% in the first month and 95.7% in the second month; the consumption of antipain drugs dropped from the mean 4.4 ± 2.6 in the predevice month to 1.3 ± 1.6 in the first and 0.6 ± 0.9 in the second month.

It has been known for many years that vitamin B12 deficiency can cause neurologic problems. One of these problems is involuntary movements that can appear both before and after the initiation of vitamin B12 treatment. Here, we report 3 infants who developed movement disorder during vitamin B12 administration. The movement disorder consisted of a combination of tremor and myoclonus affecting face, tongue, and limbs. Because of the severity of the symptoms, they all needed symptomatic treatment. In 2 of them, the involuntary movements resolved with clonazepam. The involuntary movements in the other patient were successfully treated with piracetam.

Disclosure of information and informed consent are relatively new concepts in the patient–physician relationship. They are based primarily on the principle of autonomy and they have many favorable practical advantages. However, the practical implementation of these requirements is fraught with difficulties, some of which can cause harm to the patient or be obstacles in fulfilling the moral obligation of beneficence. This is particularly true when disclosure of information and informed consent are done by physicians in a defensive way for fear of malpractice suits. The most ethically defensible approach is to tailor and navigate the information according to the needs and desires of each individual patient in a sensitive and empathic manner. The informed consent should be a process of mutually shared responsibility by the patient and the physician, ensuring adequate and relevant information that is well comprehended by the individual patient, and is used correctly for his or her decision making.

We successfully treated 2 pediatric cases of abdominal pain-related functional gastrointestinal disorder with sumatriptan. When 9 years old, patient 1 developed periodic abdominal pain that was intractable to medication and remitted spontaneously. She was diagnosed with abdominal migraine, categorized as H2c in the Rome III criteria for functional gastrointestinal disorders. At age 12, intranasal sumatriptan relieved her pain, and her attacks halted 2 years later. Patient 2 was a 9-year-old girl diagnosed with attention-deficit hyperactivity disorder (ADHD), who began to have intermittent abdominal pain of variable severity, which sometimes restricted daily activity. She was diagnosed with childhood functional abdominal pain syndrome, categorized as H2d1 using the Rome III criteria. Intranasal sumatriptan also relieved her pain. These cases suggest that the mechanism of pain in abdominal pain-related functional gastrointestinal disorders is similar to that of migraine, with probable central hypersensitivity, at least in a subset of cases.

Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. The infantile form is severe: the main clinical findings are neurologic signs, associated with hematological signs and bone alterations. Immediate restoration of plasma amino acids is the primary goal and early diagnosis is crucial not to delay the onset of possible treatment. We report a case of homocystinuria with early onset: an initial symptomatology was undervalued by the pediatrician with a delay in diagnosis. Despite the therapy, the patient developed tetraventricular hydrocephalus requiring ventricular drainage. In conclusion, we want to remember the necessity to perform a complete metabolic workup in a patient with clinical manifestations suggestive for homocystinuria, and the importance of early recognition of the signs and symptoms of hypertensive hydrocephalus, a possible complication of this condition.

Cerebral palsy, typically diagnosed in childhood, clearly continues into adulthood. This study describes the long-term medical, functional, educational, and psychosocial outcomes of people with cerebral palsy. Of the 203 people with cerebral palsy diagnosed and treated at the Child Development Center in Tel Aviv between 1975 and 1994, 163 (80%; age range 8-30 years, mean age 18.9 years, and median age 19 years) participated in a cross-sectional telephone survey. Half the respondents have chronic health problems: 78% report they experience gross motor disability, of whom 22% are wheelchair users; 30% to 50% need help in various activities of daily living; 35% have mental retardation; 79% completed 12 years or more of schooling; 78% live with their parents; 25% have served in the army; 23% have a driver’s license; and 23% work in competitive employment. The large majority is involved in varied leisure activities and report a high level of life satisfaction.

A retrospective review was performed in patients who developed neurobehavioral adverse reactions to lamotrigine. Data were obtained from interviews, examinations, and routine medical records. There were 7 male and 2 female patients with epilepsy with a mean age of 5 years. All 9 patients became hyperactive and agitated over a broad range of lamotrigine dosing (0.7-14.0 mg/kg per d). Five patients developed self-injurious and violent behaviors. Two patients developed severe insomnia. The most affected patient was a 6-year-old boy whose mood and affect became extremely volatile. He also experienced threatening visual and auditory hallucinations and insomnia. All 9 patients had dramatic improvement and/or resolution of the adverse neurobehavioral effects following discontinuation or reduction of lamotrigine. Reversible, severe neurobehavioral disturbances associated with lamotrigine therapy have not been reported in the literature. While idiosyncratic and uncommon, this is a potentially significant, clinical side effect. Further studies are necessary to clarify the population at risk.

In a retrospective review of patients with acquired demyelinating disorders of the central nervous system, 19 children (0.6%) were identified from the Paediatric Neurology database of 3159 patients; 7 had acute disseminated encephalomyelitis, 1 had Schilder’s disease, 5 had multiple sclerosis, and 6 had acute transverse myelitis. The median age of presentation was 83 months, with increased incidence during the summer and winter months. The commonest presentation was hemiparesis. The commonest regions of magnetic resonance imaging (MRI) abnormalities were the deep white matter (68%) and cerebellum (48%).The patients with multiple sclerosis had more monosymptomatic presentations (P < .02), raised cerebrospinal fluid protein (P = .022), and contrast enhancement of lesions (P = .05) compared with the acute disseminated encephalomyelitis group. Neuroepidemiological published surveillances of African children provide no data about these disorders. The prevalence of acquired demyelinating disorders in resource-poor settings is under-estimated because of the large burden of infections and limited access to neuroimaging.

Recurrent reactivation of latent Varicella-Zoster virus may cause various neurological complications including encephalitis, myelitis, stroke episodes, and meningitis. It occurs mainly in elderly or immunocompromised patients and is very rare in children. We report a 14-year girl who presented with meningoencephalitis due to reactivation of Varicella-Zoster virus 10 years after she had chickenpox and 4 years after she had zoster. Characteristic skin lesions of varicella were absent. Varicella-Zoster virus DNA was detected in cerebrospinal fluid and magnetic resonance imaging (MRI) findings were consistent with small vessel cerebral vasculitis. Treatment with acyclovir and high dose methylprednisolone resulted in near-complete neurological recovery. Although rare, Varicella-Zoster virus may reactivate to cause significant central nervous system disease even in immunocompetent children. Diagnosis depends on a high degree of suspicion because the typical rash may not associate the disease. Characteristic lesions on MRI and the presence of Varicella-Zoster virus DNA in cerebrospinal fluid are key findings for the correct diagnosis.

To identify children with complex partial seizures with increased risk for suboptimal seizure control with 1 medication, a computerized database containing all patients seen in the context of a single pediatric neurology practice was reviewed for patients with complex partial seizures. Participants included in analysis were then divided into groups; a group in whom seizure control was attained with a single medication (group 1) and a group for whom 2 or more medications were required for seizure control (group 2). Status epilepticus, developmental disabilities, and the presence of coexisting other seizures/types were also significantly different, with a higher predominance in group 2 children. Patients with status epilepticus, coexistent seizure types, and developmental disabilities should be identified and more carefully followed, with a lower threshold for starting these children on a combination of antiepileptic drugs adhered to.

Tourette syndrome is often accompanied by other syndromes, like attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder, and its treatment is symptomatic. Because there are no European guidelines for pharmacological treatment in Tourette syndrome, we wanted to contribute to a better insight into the common practice in Scandinavia. Furthermore, we wanted to elaborate the influence of the presence of comorbidities and of the severity of tics on pharmacological treatment. We have examined the frequency, art, and reason for pharmacological treatment in a Danish clinical cohort of 314 children with Tourette syndrome. In total, 60.5% of the children once had received pharmacological treatment. Mostly, the treatment was started because of tics or ADHD. If ADHD or obsessive-compulsive disorder were present, more children received pharmacological treatment and more different agents were tried. The children who received pharmacological treatment had more severe tics than those without medication.

We assessed the psychosocial and educational consequences of Tourette syndrome using a structured interview and child behavior checklist in 314 children with Tourette syndrome and 81 healthy controls. Of the children with Tourette syndrome, 59.0% needed some kind of educational support, 44.7% had been teased, and 61.8% withheld themselves from taking part in social activities because of Tourette syndrome-related problems. There were significantly more psychosocial and educational problems in children with Tourette syndrome compared with healthy controls. A higher rate of these problems was also seen if the comorbidities attention-deficit hyperactivity disorder (ADHD) and/or obsessive compulsive disorder were present. It is very important for the physicians, teachers, and other professionals to be aware of the high prevalence of these social and educational problems to be able to deal with them and to teach the families to cope with them.

The aim of this study is to assess any cerebral dysfunction in young children, who experienced febrile seizures, by means of magnetoencephalography. Our study population included 15 children (9 boys, 6 girls) within the age range of 2 to 7 years. The magnetoencephalography data were recorded with a 122-channel biomagnetometer. Equivalent current dipoles were calculated for epileptic spikes on magnetoencephalography recordings according to the single dipole model. Of 15 children, 8 showed equivalent current dipoles that located at the left—temporal, right—temporal, occipital, and frontal lobe, as active regions responsible for febrile seizures. We assumed that the interictal epileptiform discharges are a consequence of febrile seizures. Of course, further study in a larger number of patients is needed to evaluate the exact role of the equivalent current dipoles, in young children, who experienced febrile seizures.

Valproic acid is one of the most frequently prescribed antiepileptic drugs for the therapy of generalized and focal epilepsies. Valproate induces a variety of hemostatic disorders such as thrombocytopenia, abnormal platelet function, hypofibrinogenemia, and decreased concentrations of von Willebrand factor, and it rarely causes serious bleeding complications. It may also lead to atherosclerosis and thrombosis. However, there is still lack of knowledge about the incidence and occurrence of these particular side effects. In this prospective systematic study, we assessed the early effects of sodium valproate on both pro- and anticoagulatory factors, homocysteine, and lipoprotein (a) in 24 newly diagnosed epileptic children treated with valproate. Valproate causes decreased factor VII levels, platelet count, factor VIII, Protein C, fibrinogen, and increased lipoprotein (a) levels. To the best of our knowledge, our report is the first in the medical literature, which describes that valproate significantly reduces factor VII levels even during short-term therapy.

Type II methemoglobinemia is a somatic deficiency of cytochrome b5 reductase with severe global neurologic impairment. We report a novel mutation in exon 3 of the CYB5R3 gene on chromosome 22 consisting of homozygous 1-base pair (bp) deletion noted as c.215delG; p.Gly72AlafsX100. The patient had improvement of gross motor skills, chewing, and swallowing that may be due to the initiation of daily ascorbic acid therapy. We hypothesize that a possible response to ascorbic acid may be related to the effect of making additional ferrous iron available for its role as a cofactor in carnitine synthesis.

For the first time, the use of urine [¹H] magnetic resonance spectroscopy has allowed the detection of 1 case of guanidinoacetate methyl transferase in a database sample of 1500 pediatric patients with a diagnosis of central nervous system impairment of unknown origin. The urine [¹H] magnetic resonance spectroscopy of a 9-year-old child, having severe epilepsy and nonprogressive mental and motor retardation with no apparent cause, revealed a possible guanidinoacetic acid increase. The definitive assignment of guanidinoacetic acid was checked by addition of pure substance to the urine sample and by measuring [¹H]-[¹H] correlation spectroscopy. Diagnosis of guanidinoacetate methyl transferase deficiency was further confirmed by liquid chromatography–mass spectrometry, brain [¹H] magnetic resonance spectroscopy, and mutational analysis of the guanidinoacetate methyl transferase gene. The replacement therapy was promptly started and, after 1 year, the child was seizure free. We conclude that for this case, urine [¹H] magnetic resonance spectroscopy screening was able to diagnose guanidinoacetate methyl transferase deficiency.

Meralgia paresthetica is a mononeuropathy affecting the lateral femoral cutaneous nerve that is extremely rare in children. Two adolescent females, aged 11 and 13 years, presented due to tingling and pain on the side of the thigh of 2 to 3 weeks duration. The general examination revealed mild obesity; the neurological examination of both patients is normal except for pain, hypo- or hyperesthesia on the side of the quadriceps. An electromyogram was performed in the first case that reveals decreased conduction velocity of the affected lateral femoral cutaneous nerve. The younger child was treated successfully with diet and topiramate; the second patient’s symptoms disappeared after initiating conservative measures. Meralgia paresthetica is probably underdiagnosed in the pediatric population. First-line treatment should be conservative, but topiramate may be useful for the treatment of meralgia paresthetica, although broader studies are needed to evaluate its true effectiveness in this pathological condition.

There is evidence that valproic acid causes a reduction of serum biotinidase enzyme activity. We determined the serum concentration of antiepileptic drugs, transaminases, -glutamyl transferase, ammonia, and biotinidase enzyme activity in 57 children treated with valproic acid, in 17 children treated with carbamazepine, and in 75 age- and sex-matched healthy controls. There were no significant differences in the serum biotinidase enzyme activity between the patients treated with valproic acid, the patients treated with carbamazepine, and the control group. Hyperammonemia was detected in 8 patients treated with valproic acid. Hair loss was observed in 3 female patients treated with valproic acid, and the alopecia disappeared with the oral administration of biotin (10 mg/d) in 3 months. These results suggest that the treatment with valproic acid does not alter the serum biotinidase enzyme activity.

A chart was prepared using selected milestones from Baroda norms of Bayley Scales of Infant Development and Gesell’s schedules on y-axis and age in months on x-axis. A child failing to achieve any milestone to the left of the chronological age was screen positive. Interrater and test-retest reliability were calculated. For validation, the screen was administered to mothers of 142 children aged 6 to 24 months attending Pediatric Outpatients or Neurology Clinic of CSM Medical University, Lucknow, India. Acutely ill children were excluded. A full Developmental Assessment Scale for Indian infants was then done on the same children. Sensitivity and specificity were 95.9% and 73.1%, respectively. It is concluded that Lucknow Development Screen can be effectively used for screening in the community.

Mutations in small heat-shock protein 27 and small heat-shock protein 22 genes were found in association with Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. We searched for mutations in small heat-shock protein 27 gene in an Italian family with peripheral neuropathy and intrafamilial phenotypic variability. A novel heterozygous frame-shift mutation c.476_477delCT was found while point mutations in most genes associated with hereditary neuropathies were ruled out. In the proband, who showed a severe early onset peripheral neuropathy, an independent pathogenetic effect on the peripheral nervous system secondary to the tetanus toxoid injection may be supposed. This is the first truncating nonsense mutation in the small heat-shock protein 27 gene identified so far and the clinical, neurophysiologic, and neuropathological findings are discussed.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disorder commonly caused by the A3243G mutation. We report a patient who initially presented with visual hallucinations, headaches, and nonconvulsive status epilepticus originating in left occipital lobe who subsequently progressed to have multifocal seizures. His magnetic resonance imaging (MRI) showed subtle T2 hyperintensity at first presentation that subsequently fully resolved. He then had more typical diffusion restriction not conforming to vascular territories. Evolution of his neuroimaging and electroencephalogram (EEG) is discussed with a brief review of literature. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes should be suspected early with occipital lobe seizures.

The aim of this study was to investigate the neurological outcome of premature small for gestational age infants at the corrected age of 18 months by the Hammersmith Infant Neurological Examination. A prospective trial was conducted comparing 41 preterm infants being small for gestational age with 41 appropriate for gestational age infants. Birth weight was significantly lower in small for gestational age infants compared with appropriate for gestational age infants (1724.6 ± 433 versus 1221 ± 328 g). There were no significant differences regarding the median gestational age and Apgar scores. Median global scores differ significantly between both groups: 75 (47-78) versus 76 (72-78) for the small for gestational age and appropriate for gestational age infants, respectively. Both groups had optimal scores. In conclusion, although the small for gestational age group scored lower in the Hammersmith Infant Neurological Examination, median global score in both groups was within optimal range.

Seckel syndrome is a rare genetic disorder of recessive inheritance characterized by prenatal-onset growth retardation, abnormally small head, varying degrees of mental retardation and an unusual "beak-like" protrusion of the nose. Additionally, it is associated with multiple organ system anomalies, including that of the central nervous system. An 8-year-old male child with typical features of Seckel syndrome and asymptomatic cerebellar tonsillar herniation diagnosed by magnetic resonance imaging associated with congenital mirror movements of the upper extremities is described. The child, additionally, had agenesis of the corpus callosum. Previously reported central nervous system anomalies associated with congenital mirror movements include corpus callosal agenesis and cranio-vertebral anomalies, both of which were present in this child. To the best of our knowledge, this is the first report of congenital mirror movements occurring in association with Seckel syndrome.

The objective of the study was to investigate a girl with giant axonal neuropathy and detect the mutation of GAN gene in her family. The encoding exons of GAN gene were amplified from genomic DNA of the proband and her parents by polymerase chain reaction and directly sequenced after purification. The proband manifested typical neurological symptoms and pathological abnormalities. The case had 2 heterozygous missense mutations in GAN gene: 1. c. 224 T>A in exon 2, her mother was a heterozygote of this mutation and had normal phenotype; 2. c.1634G>A in exon 10, and her father was a heterozygote of this mutation and had normal phenotype. Both of the mutations caused amino acid changes in the gigaxonin protein. In this family, missense mutation of c.224 T>A and missense mutation of c.1634G>A in GAN gene caused the phenotype of giant axonal neuropathy in the proband. Her parents are heterozygotes of the disease without symptoms.

We assessed pediatrician awareness of the parameter "Evaluating the first non-febrile seizure in children" and how the concepts of this parameter were incorporated into practice. Although most reported caring for children with seizures, 60% were not aware of the practice parameter. When given the clinical scenario of an otherwise healthy 8-year-old child with a first, unprovoked seizure, management was variable. Most (83%) would obtain an electroencephalography, and many (58%) would order an imaging study, usually a magnetic resonance imaging. However, most were also likely to order laboratory studies that were not indicated given the scenario and the practice parameter. This pilot study suggests that pediatricians may not be aware of this practice parameter and many may not be incorporating evidence-based recommendations regarding the evaluation of children with new-onset seizures.

Respiratory syncytial virus is a common cause of infection in children. The authors summarize the clinical and diagnostic features of 9 patients admitted to the pediatric intensive care unit with neurological consultation. Patients were aged 5 weeks to 3 years. Four had seizures, 4 had cardiac arrest, and 1 had hypertonia. Results of brain magnetic resonance imaging in 5 patients was abnormal in 1. Cerebrospinal fluid in 4 patients showed elevated protein in 1. Serum sodium was low in 2 patients and normal in 7. Electroencephalograms in 8 patients were abnormal in 7. Increased risk of neurological complications of respiratory syncytial virus should be considered in any patient with documented infection requiring intensive care. Clinical manifestations may include seizures, encephalopathy, and abnormal neurological examination. The authors’ data suggest that the electroencephalogram provides a sensitive method for detection of neurological insult in this group of patients.

An enlarged cisterna magna can be identified during routine ultrasound screening in the second half of pregnancy. It is important to be able to give an accurate prognosis. We evaluated the developmental outcome of these children. A total of 29 fetuses with a large cisterna magna identified in utero were compared to 35 children with a normal fetal ultrasound. The children were evaluated by the Gesell Developmental Schedules and the Peabody Developmental Motor Scale. The study group showed a significantly worse performance in the Gesell test. However, the overall performance for both groups was within normal limits. Four children in the study group had a borderline developmental quotient. Both groups performed similarly in the Peabody test. Walking age was significantly delayed in the study group. Children with an enlarged cisterna magna may be at risk for mild developmental delay. In cases of nonisolated enlargement of the cisterna magna, the outcome may be guarded.

Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, this is the first report of the condition from this region. Childhood presentation and differential diagnosis is discussed.