Pregled bibliografske jedinice broj: 73965
Menkes disease: two cases presenting with early white matter lesions
Menkes disease: two cases presenting with early white matter lesions // The Second European-American Intensive Course in Clinical and Forensic Genetics / Primorac, Dragan (ur.).
Zagreb, 2001. (poster, međunarodna recenzija, sažetak, stručni)
CROSBI ID: 73965 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Menkes disease: two cases presenting with early white matter lesions
Autori
Jadrešin, Oleg ; Barišić, Ingeborg ; Fumić, Ksenija
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni
Izvornik
The Second European-American Intensive Course in Clinical and Forensic Genetics
/ Primorac, Dragan - Zagreb, 2001
Skup
The Second European-American Intensive Course in Clinical and Forensic Genetics
Mjesto i datum
Dubrovnik, Hrvatska, 03.09.2001. - 14.09.2001
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
Menkes disease; leukoencephalopaties; neuroimaging
Sažetak
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.
Izvorni jezik
Engleski
Znanstvena područja
Javno zdravstvo i zdravstvena zaštita
