Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in pendred syndrome gene

Pendred syndrome (PDS) is characterized by profound deafness in childhood, positive perchlorate challenge, and goiter. PDS is often associated with enlarged endolymphatic duct and sac (EEDS), and recently, PDS gene mutations have been reported even in those patients with EEDS without classic Pendred...

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Bibliographic Details
Published in:Magnetic resonance imaging 2004, Vol.22 (1), p.25-30
Main Authors: Naganawa, Shinji, Koshikawa, Tokiko, Fukatsu, Hiroshi, Ishigaki, Taekeo, Sato, Eisuke, Sugiura, Makoto, Yoshino, Takahiko, Nakashima, Tsutomu
Format: Article
Language:English
Subjects:
Adolescent
Adult
Alleles
Child
Child, Preschool
Deafness - etiology
Deafness - genetics
Deafness - pathology
DNA Mutational Analysis
Endolymphatic Duct - abnormalities
Endolymphatic Duct - pathology
Endolymphatic Sac - abnormalities
Endolymphatic Sac - pathology
Enlarged endolymphatic duct and sac
Female
Genotype
Goiter - genetics
Humans
Inner ear
Magnetic Resonance Imaging - methods
Male
Mutation
Pendred syndrome
Statistics, Nonparametric
Syndrome
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Summary:Pendred syndrome (PDS) is characterized by profound deafness in childhood, positive perchlorate challenge, and goiter. PDS is often associated with enlarged endolymphatic duct and sac (EEDS), and recently, PDS gene mutations have been reported even in those patients with EEDS without classic Pendred syndrome. In a previous report, the number of mutant alleles was correlated with the degree of subclinical thyroid abnormality, but not with hearing loss, in patients with missense mutation H723R. It also has been reported that the hearing loss in EEDS was not correlated with the EEDS volume, cochlear modiolar area, or signal intensity of the endolymphatic sac. We evaluated the correlations between the number of mutant alleles and these parameters in patients with EEDS to investigate the mechanisms underlying this condition. The study group was comprised of 16 Japanese patients with EEDS diagnosed by MR imaging. The H723R mutation was homozygous in six patients and heterozygous in six patients, with no mutation found in four patients. The modiolar area, EEDS volume, and signal intensity ratio (sac signal/cerebrospinal fluid signal) were not significantly correlated with the number of mutant alleles. PDS gene mutations may not be the only cause of EEDS, and the mechanisms underlying EEDS remain unclear.
ISSN:0730-725X
1873-5894
DOI:10.1016/j.mri.2003.07.002