Chiari type I malformation in four unrelated patients affected with Fabry disease

European Journal of Medical Genetics
Dominique P GermainPhilippe Halimi

Abstract

Fabry disease (FD) is an X-linked inborn error of metabolism resulting from the deficient activity of alpha-galactosidase A which leads to the widespread deposition of glycosphingolipids in lysosomes, and to ischemic complications involving kidneys, heart and brain. Among neurological symptoms, strokes and transient ischemic attacks (TIA) have been reported. A 30-year-old male patient, with FD, was referred to us for evaluation of a sudden episode of dizziness, with disequilibrium, and diplopia, in agreement with the diagnosis of a TIA. Head magnetic resonance imaging (MRI) showed no cerebrovascular involvement but revealed the presence of Chiari type I malformation (CMI). We subsequently performed head MRI in a cohort of 44 consecutive hemizygous male patients and seven heterozygous females affected with FD, and identified three additional cases (two males and one female) of CMI. Whether the association is coincidental or not will need further studies but our data suggest that CMI should be ruled out in all Fabry patients.

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Citations

Mar 8, 2013·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Melanie WelschRegina Eymann
Nov 26, 2010·Orphanet Journal of Rare Diseases·Dominique P Germain
Sep 3, 2011·Neurosurgical Focus·Marios LoukasW Jerry Oakes
Aug 12, 2014·Journal of the Neurological Sciences·Rima El-AbassiJohn D England
Sep 29, 2011·CNS Neuroscience & Therapeutics·Arezoo AssarehPerminder S Sachdev
Jan 3, 2013·Journal of Forensic Sciences·Jianhua ZhangYijiu Chen
Apr 26, 2011·Neurological Research·Timothy M George, Nicole H Higginbotham
Apr 26, 2011·Neurological Research·Ruth-Mary deSouzaDavid M Frim
Jun 25, 2014·Biochemical and Biophysical Research Communications·Stéphanie Olivier-Van StichelenJohn A Hanover
Dec 12, 2017·Briefings in Functional Genomics·Shriram N Rajpathak, Deepti D Deobagkar

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