Blickdiagnose: Gangstörung und krauses Haar

A six-year-old girl and a three-year-old boy of a consanguineous couple were in- vestigated because of slowly progressive motor weakness. Clinical examination re- vealed areflexia, dry scaly skin, and curly hair, unlike that of their relatives. MRI studies showed a leukoencephalopathy in both patients, characterized in the six- year-old by T2 hyperintensity of the cer- ebral white matter and parts of the inter- nal capsule. Because of the combination of areflexia with curly hair, giant axonal neuropathy (GAN, OMIM #256850) was suspected. Scanning electron microscopy revealed longitudinal creases in hair sam- ples from both children, a typical finding in GAN. Molecular genetic analysis dem- onstrated a homozygous 4bp deletion in the gigaxonin gene, confirming the di- agnosis. GAN is an autosomal-recessively inherited neurodegenerative disorder af- fecting the central and peripheral nervous system. Conspicuous curly hair is a clinical hallmark of the disease. Attempts to halt the inexorable progression by the applica- tion of penicillamine have not been con- firmed.