MR brain imaging of fucosidosis type I.
Year: 2001
Type: article
Study design: Case Report
Abstract: SUMMARY: Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.
Source: PubMed
Authors: P Galluzzi, A Rufa, P Balestri, A Cerase, A Federico
Institution: Azienda Ospedaliera Universitaria Senese
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funder: Università degli Studi di Siena
OpenAlex ID: W2146349571