title: Fabry's disease: otoneurologic findings in twelve members of one family.
abstract: Fabry's disease corresponds to an inherited disorder transmitted by an X-linked recessive gene. It generates a dysfunction of glycosphingolipid metabolism due to an enzymatic deficiency of alpha-galactosidase activity, resulting in glycosphingolipid deposits in all areas of the body. The clinical (heart, kidney, and central nervous system) manifestations are more severe in hemizygous boys than in heterozygous girls. They appear during childhood or adolescence: acroparesthesia, joint pain, angiokeratoma, corneal dystrophy, hypohydrosis or anhydrosis, and renal failure. The otoneurologic symptoms consist of hearing fluctuation, progressive unilateral or bilateral hearing loss, and episodes of vertigo or dizziness. Otoneurologic findings in 12 of 26 members of the same family are presented: the mother and 9 of her 12 children, as well as 2 of her 14 grandchildren: 4 healthy persons, 4 heterozygous female carriers, and 4 hemizygous male patients. Three of the male patients had fluctuation of hearing, sudden hearing loss, and episodes of vertigo and dizziness. The otoneurologic examinations showed a bilateral cochleovestibular deficit (n = 1), a right cochleovestibular deficit (n = 1), and a bilateral hearing loss combined with a right vestibular deficit (n = 1). Histopathologic evidence of glycosphingolipid accumulation in vascular endothelial and ganglion cells, as well as atrophy of the stria and spiral ligament, might explain the otoneurologic symptoms and findings.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Inselspital, University of Berne, Berne, Switzerland.
authors.forename: Dominique
authors.initials: D
authors.lastname: Vibert
authors.forename: Beat
authors.initials: B
authors.lastname: Blaser
authors.forename: Christoph
authors.initials: C
authors.lastname: Ozdoba
authors.forename: Rudolf
authors.initials: R
authors.lastname: Häusler
mesh_terms: D000328:Adult; D000368:Aged; D004584:Electronystagmography; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D034381:Hearing Loss / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008575:Meniere Disease / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D014012:Tinnitus / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D014717:Vertigo / Q000150:complications* / Q000235:genetics / Q000503:physiopathology