Neurologic presentations of mitochondrial disorders


Neurologic presentations of mitochondrial disorders


Nissenkorn A; Zeharia A; Lev D; Watemberg N; Fattal-Valevski A; Barash V; Gutman A; Harel S; Lerman-Sagie T


Journal Of Child Neurology




Child; Female; Humans; Male; Follow-Up Studies; Q3 Literature Search; Brain Diseases; Metabolic; Neurologic Examination; Mental Retardation/diagnosis/genetics; Deafness/diagnosis/genetics; Developmental Disabilities/diagnosis/genetics; Inborn/diagnosis/genetics; MELAS Syndrome/diagnosis/genetics; MERRF Syndrome/diagnosis/genetics; Mitochondrial Myopathies/diagnosis/genetics


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.


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Nissenkorn A; Zeharia A; Lev D; Watemberg N; Fattal-Valevski A; Barash V; Gutman A; Harel S; Lerman-Sagie T, “Neurologic presentations of mitochondrial disorders,” Pediatric Palliative Care Library, accessed December 8, 2023,