Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome.
Radiological malformation of the labyrinth, specifically dilatation of the vestibular aqueduct, has been clearly established as a feature in the majority of patients with Pendred syndrome. Mutations of the Pendred syndrome (PDN) gene have been identified in this autosomal recessive form of deafness. There is no direct correlation between the nature of the underlying mutation and the clinical features of deafness, thyroid dysfunction and cochlear malformation. We report a family, the proband of which was thought to deafness secondary to congenital hypothyroidism. At autopsy, histopathological examination of this patient revealed a dilated vestibular aqueduct. Subsequent work on the family has confirmed the diagnosis of Pendred syndrome in the proband and her affected sister.
Gill
H
H
Department of Clinical Genetics, Institute, Child Health, London, UK.
Michaels
L
L
Phelps
P D
PD
Reardon
W
W
D000293:Adolescent; D002648:Child; D003409:Congenital Hypothyroidism; D003638:Deafness / Q000151:congenital*; D005260:Female; D006042:Goiter / Q000150:complications; D006801:Humans; D013577:Syndrome; D014723:Vestibular Aqueduct / Q000002:abnormalities*