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Early white matter lesions in Menkes disease

Gjergja, Romana; Barišić, Ingeborg; Jadrešin, Oleg; Fumić, Ksenija
Early white matter lesions in Menkes disease // European Journal of Human Genetics (1018-4813) 10 (2002), Suppl 1 ; 209, 2002. str. 209-209 (poster, nije recenziran, sažetak, stručni)

Early white matter lesions in Menkes disease

Gjergja, Romana ; Barišić, Ingeborg ; Jadrešin, Oleg ; Fumić, Ksenija

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

European Journal of Human Genetics (1018-4813) 10 (2002), Suppl 1 ; 209 / - , 2002, 209-209

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Nije recenziran

Ključne riječi
Menkes disease; leukodystrophy

Menkes disease is an X-linked recessive disorder affecting the metabolism of copper. The Menkes gene product (MNK) is a transmembrane copper-transporting P-Type ATP-ase considered to be the main efflux protein in human tissues. Although many patients have a severe clinical course characterised by progressive neurodegeneration, connective tissue distrubances, distinctive facial appearance, hair abnormalities, and poor outcome, variable allelic forms presenting as mild Menkes disease or occipital horn syndrome can be distinguished. >Neuroimaging usually shows cortical cerebral and cerebellar atrophy, as a result of progressive and extensive degeneration of grey matter, secondary demyelination, subdural accumulation of fluid, or multifocal areas of ischemic infraction. We report two infants with remarkable early diffuse white matter involvement on neuroimaging suggesting at first Krabbe disease. Diagnostic evaluation yielded low levels of serum copper and ceruloplasimn, high 64Cu uptake in fibroblasts and DNA analysis ultimately confirmed the diagnosis of Menkes disease. It is concluded that Menkes disease should be considered in any male infant who presents with white matter changes, even in the absence of other distinctive features of the Menkes disease spectrum. As early diagnosis and treatment can significantly improve the otucome, Menkes disease should be included in the differential diagnosis of leukoencephalopathies

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Klinika za dječje bolesti Medicinskog fakulteta