engleski

Menkes disease: two cases presenting with early white matter lesions

Menkes disease is an X-linked recessive disorder of the copper metabolism due to malabsorption and defective distribution of dietary copper. It is caused by a defect in the Menkes (ATP7A) gene, which encodes a transmembrane copper-transporting P-type ATPase. The classic form of the disease is characterised by hypothermia, impairment of growth, characteristic hair abnormalities (thin, breakable, kinky and/or grey-hair) and facial appearance, seizures and neurodevelopmental delay. Neuroimaging usually shows cortical atrophy, chronic subdural effusion or hygroma, vascular abnormalities, progressive and extensive degeneration of grey matter with secondary demyelination. White matter lesions are rarely present before other features of the disease and may evolve into atrophy. We report two cases of Menkes disease with predominant early diffuse white matter involvement on neuroimaging which have lead to diagnostic difficulties suggesting Krabbe disease. Clinical progression suggested the diagnosis of Menkes disease, confirmed consequently by low levels of serum copper and ceruloplasmin, high 64CU uptake in fibroblasts and DNA analysis.In Menkes disease white matter lesions may be present before other features of the disease leading to the diagnostic difficulties in the early stage of the disease. In the differential diagnosis of leukoencephalopathies Menkes disease should be also considered.

Menkes disease; leukoencephalopaties; neuroimaging

nije evidentirano