Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years

Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years

BackgroundHuppke–Brendel (HB) syndrome is an autosomal recessive disease caused by variants in the SLC33A1 gene. Since 2012, less than ten patients have been reported, none survived year six. With neurologic involvement and ceruloplasmin deficiency, it may mimic Wilson disease (WD).Objectives and me...

Full description

Bibliographic Details
Main Authors: Frederik Teicher Kirk, Ditte Emilie Munk, Jakob Ek, Lisbeth Birk Møller, Mette Bendixen Thorup, Erik Hvid Danielsen, Hendrik Vilstrup, Peter Ott, Thomas Damgaard Sandahl
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Neurology
Subjects:
Wilson disease
copper
neurology
SLC33A1
rare disease
Huppke-Brendel syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.957794/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2022.957794/full

Similar Items