[A case of Huntington's disease with congenital deafness].
A 27-year-old man with Huntington's disease (HD) and congenital deafness (CD) due to anomaly of the middle ear and inner ear was reported. His paternal family contained four members with CD and at least five members with HD including a pathologically confirmed case. Two members had both disorders. The maternal side had two members with CD but none with HD. The patient's physical and mental development was normal expect for deafness. His performance IQ tested at the age of 13 with WISC was 116. Since the age of 20, he showed gradual character changes, fits of violence, and tendency of exhibitionism. Since the age of 22, he developed involuntary movement of right extremities which extended to other parts, thereafter. On admission his IQ tested with WAIS was 76 (verbal 75, performance 77). He had bilateral total deafness and choreic movements of the face, tongue, neck and extremities. Other physical and neurological examinations, and laboratory tests were normal. No stable auditory brain stem responses to 115 dB HTL click stimulation were obtained. Brain CT and MRI showed atrophy of the caudate nucleus and widening of cerebral sulci, but atrophy of the brain stem and cerebellum was not evident. CT of the temporal bones revealed, bilaterally, ballooning of the vestibules of ears, and hypoplasia of auditory ossicles and lateral semicircular canals. We considered the association of two diseases must be incidental.
Shiga
Y
Y
Department of Neurology, Tohoku University School of Medicine.
Saito
H
H
Mochizuki
H
H
Suzuki
H
H
Kobayashi
T
T
D000328:Adult; D003638:Deafness / Q000150:complications / Q000151:congenital*; D006801:Humans; D006816:Huntington Disease / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree