Case report<br>Adult, isolated respiratory chain complex IV deficiency with minimal manifestations

Josef Finsterer; Gabor G. Kovacs; Helmut Rauschka; Uwe Ahting

doi:10.5114/fn.2015.52412

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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2/2015
vol. 53

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abstract:

Case report
Adult, isolated respiratory chain complex IV deficiency with minimal manifestations

Josef Finsterer

,

Gabor G. Kovacs

,

Helmut Rauschka

,

Uwe Ahting

Folia Neuropathol 2015; 53 (2): 153-157

DOI: https://doi.org/10.5114/fn.2015.52412

Online publish date: 2015/06/30

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Objectives: Isolated complex IV (cytochrome c oxidase) deficiency is one of the most frequent respiratory chain defects in mitochondrial disorders (MIDs) and usually occurs together with severe pediatric or rarely adult multisystem disease. Here we report an adult with isolated complex IV deficiency with unusually mild clinical manifestations.

Case report: A 50-year-old man had developed generalized muscle aches and occasional twitching and stiffness of the musculature since age 48 years. He had a previous history of diabetes, acute hearing loss, hyperlipidemia, hyperuricemia, arterial hypertension, polyarthrosis, hypogonadism, and hypothyroidism. The family history was positive for diabetes (mother), CK elevation (brother), myalgias (brother), and proximal weakness of the upper limbs (mother). Work-up revealed hypoacusis, postural tremor and reduced tendon reflexes, recurrent mild hyper-CK-emia, neurogenic needle electromyography, and a muscle biopsy with mild non-specific changes. Biochemical investigations of the muscle homogenate revealed an isolated complex IV defect and reduced amounts of coenzyme Q (CoQ). He profited from CoQ supplementation, low-carbohydrate diet, and gluten-free diet.

Conclusions: Isolated complex IV deficiency may present with only mild muscular, endocrine, or cardiac manifestations in adults. Coenzyme Q supplementation, low-carbohydrate diet, and gluten-free diet may have a beneficial effect at least on some of the manifestations.

keywords:

Case reportAdult, isolated respiratory chain complex IV deficiency with minimal manifestations

Josef Finsterer , Gabor G. Kovacs , Helmut Rauschka , Uwe Ahting

mitochondrial, myopathy, metabolic, multisystem, complex IV, cytochrome c oxidase, muscle biopsy, creatine kinase

Case report
Adult, isolated respiratory chain complex IV deficiency with minimal manifestations

Josef Finsterer

,

Gabor G. Kovacs

,

Helmut Rauschka

,

Uwe Ahting