Neurologic Presentations of Mitochondrial Disorders

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 presentati...

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Bibliographic Details
Published in:Journal of child neurology 2000-01, Vol.15 (1), p.44-48
Main Authors: Nissenkorn, Andreea, Zeharia, Avraham, Lev, Dorit, Watemberg, Nathan, Fattal-Valevski, Aviva, Barash, Varda, Gutman, Alisa, Harel, Shaul, Lerman-Sagie, Tally
Format: Article
Language:English
Subjects:
Brain Diseases, Metabolic, Inborn - diagnosis
Brain Diseases, Metabolic, Inborn - genetics
Child
Deafness - diagnosis
Deafness - genetics
Developmental Delays
Developmental Disabilities - diagnosis
Developmental Disabilities - genetics
Female
Follow-Up Studies
Humans
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Male
MELAS Syndrome - diagnosis
MELAS Syndrome - genetics
MERRF Syndrome - diagnosis
MERRF Syndrome - genetics
Mitochondrial Myopathies - diagnosis
Mitochondrial Myopathies - genetics
Neurologic Examination
Optics
Seizures
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Summary: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).
ISSN:0883-0738
1708-8283
DOI:10.1177/088307380001500110