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Peripheral neuropathy as initial sign of mitochondrial disorder
Author(s) -
Manneschi L,
Battisti C,
Pesci I,
Malandrini A,
Santorelli FM,
Scaglioni A,
Federico A,
Montanari E
Publication year - 2004
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/j.1085-9489.2004.009209bk.x
Subject(s) - peripheral neuropathy , medicine , pathology , mitochondrial disease , muscle biopsy , pathogenesis , lafora disease , mitochondrial dna , biopsy , biology , endocrinology , genetics , gene , diabetes mellitus , phosphorylation , phosphatase
Peripheral neuropathy is one of the clinical manifestations of mitochondrial disorders such as MELAS, MERRF, MNGIE, NARP, Leigh's syndrome, and Kearne‐Sayre syndrome. However, the prevalence of the neuropathy and its pathogenesis in mitochondrial diseases are not yet completely clarified. We describe the clinical case of a 40‐year‐old woman who, at 35 years of age, developed a progressive peripheral neuropathy that was the only and first clinical sign of disease for several years. In the family history a prevalence of severe cardiomyopathy in paternal lineage (the father and two brothers) is referred. Four years after the onset of the disease, our patient developed secondary thyroid hypothyroidism with multinodular gland and recently, bilateral cataract. Routinely laboratory investigations and neuroimaging study were normal. A mild increase of serum lactic acid was present (1.7 mmol/l, n.v. 0.3–1.3). Electrophysiological examination showed a sensorimotor neuropathy, with a prevalence of demyelinating pattern. Nerve biopsy confirmed myelin and axonal degeneration. Muscle biopsy showed 80% of negative cytochrome C oxidase fibres and mitochondria with paracrystalline inclusions. Biochemical analysis confirmed COX deficiency. Molecular genetic analysis excluded multiple deletions of mtDNA. The sequence of mitochondria DNA is being performed. In the literature there are a few cases of mitochondrial disorder with peripheral neuropathy at onset, usually juvenile cases. Our clinical case shows that a mitochondrial pathogenesis should be considered in the differential diagnosis of neuropathies.