Mitochondrial Disorders in Two Children of a Family: A Case Report

Mohadeseh Azadvari, Hossein Ahmadi, Maryam Rafiei, Leila Gholamhosseini, Seyede Zahra Emami Razavi


Mitochondrial disorders belong to the group of metabolic diseases, that may cause various symptom. It may present at any ages and have harmful effects on different tissues. We present two children of a family, a 5-year-old boy and an 8-year-old girl, that came with complaint of gait imbalance and repeated fallings. Both of them had normal history of birth and developmental status, but when the girl was 6 years old, gait imbalance and ataxia started, that slowly progress. And the same sign started in a boy when he was 4-year-old. In electrodiagnostic study, we found peripheral polyneuropathy (demyelinating type) with a proximal myopathy. All findings include history and physical exam, laboratory data and electrodiagnostic study were in favour of mitochondrial disorders that confirmed by muscle biopsy. Mitochondrial disorders should be considered any time if a disorder present with more than one organ involvement. The prognosis of patients varies impressively from one patient to the other. With timely diagnosis and treatment of symptoms, better outcome will be expected.


Mitochondrial, Disorders, Family, Children, Case report

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