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Neurologic Presentations of Mitochondrial Disorders

Pediatric Neurology Unit and Metabolic-Neurogenetic Clinic, Wolfson Medical Center Holon

Avraham Zeharia, MD

Department of Pediatrics C, Schneider Children's Hospital, Beilinson Campus Petah Tikva

Dorit Lev, MD

Pediatric Neurology Unit and Metabolic-Neurogenetic Clinic, Wolfson Medical Center Holon

Nathan Watemberg, MD

Pediatric Neurology Unit and Metabolic-Neurogenetic Clinic, Wolfson Medical Center Holon

Aviva Fattal-Valevski, MD

Child Development Center and Pediatric Neurology Unit, Dana Children's Hospital Tel-Aviv

Varda Barash, PhD

Department of Clinical Biochemistry, Hadassah University Hospital Jerusalem, Israel

Alisa Gutman, MD

Department of Clinical Biochemistry, Hadassah University Hospital Jerusalem, Israel

Shaul Harel, MD

Child Development Center and Pediatric Neurology Unit, Dana Children's Hospital Tel-Aviv

Tally Lerman-Sagie, MD

Pediatric Neurology Unit and Metabolic-Neurogenetic Clinic, Wolfson Medical Center Holon, asagie{at}ccsg.tau.ac.il

This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial disorders based on a suggestive clinical presentation and at least one accepted criteria, while in five patients the diagnosis remained probable. All patients had nervous system involvement, but it was the presenting symptom in 28 of 42. Eighteen children had normal intelligence and 24 had mental retardation or developmental delay at the onset of their disease. Twenty-five patients had either an acute regression or a progressive encephalopathy. The most frequent neurologic manifestations were abnormal tone, seizures, extrapyramidal movements, and autonomic dysfunction. The eyes were involved in 11 children. Nerve deafness was found in seven patients. Myopathy was found in only six patients. In conclusion, a complex neurologic picture, especially with other organ involvement, warrants a full mitochondrial evaluation. (J Child Neurol 2000; 15:44-48).

Journal of Child Neurology, Vol. 15, No. 1, 44-48 (2000)
DOI: 10.1177/088307380001500110


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