Fabry's disease: otoneurologic findings in twelve members of one family.

Full 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.

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Author information

Author/s: Vibert, Dominique (D); Blaser, Beat (B); Ozdoba, Christoph (C); Häusler, Rudolf (R);

Affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Inselspital, University of Berne, Berne, Switzerland.

Journal and publication information

Publication Type: Comparative Study; Journal Article

Journal: The Annals of otology, rhinology, and laryngology (Ann Otol Rhinol Laryngol), published in United States. (Language: eng)

Reference: 2006-Jun; vol 115 (issue 6) : pp 412-8

Dates: Created 2006/06/29; Completed 2006/07/18; Revised 2007/11/15;

PMID: 16805371, status: MEDLINE (last retrieval date: 12/26/2008)

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adult
Aged
Electronystagmography
Fabry Disease - complications; diagnosis; genetics
Family
Female
Genetic Predisposition to Disease
Genotype
Hearing Loss - complications; genetics; physiopathology

Humans
Magnetic Resonance Imaging
Male
Meniere Disease - complications; genetics; physiopathology
Middle Aged
Nystagmus, Pathologic - complications; genetics; physiopathology
Pedigree
Tinnitus - complications; genetics; physiopathology
Vertigo - complications; genetics; physiopathology

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