Abstract | OBJECTIVE: BACKGROUND: METHODS:
Hearing loss developed in the patient at age 4, blindness at age 48, and dystonia at age 57. Genetic studies on peripheral blood showed a l51delT mutation in his DDP gene. He died at age 66. The right temporal bone was subjected to light microscopy and polymerase chain reaction-based analysis of the DDP gene sequence. RESULTS: There was near complete loss of spiral ganglion cells with loss of nearly all peripheral and central processes. Only 1,765 spiral ganglion cells remained (8.5% of mean normal for age). The organ of Corti (including hair cells), stria vascularis, and spiral ligament were preserved. There was also a severe loss of Scarpa's ganglion cells with preservation of vestibular hair cells. The population of geniculate and trigeminal ganglion cells appeared normal. Sequence analysis from temporal bone DNA showed the 15ldelT DDP gene mutation. CONCLUSION:
|
Authors | S N Merchant, M J McKenna, J B Nadol Jr, A G Kristiansen, A Tropitzsch, S Lindal, L Tranebjaeizrg |
Journal | Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
(Otol Neurotol)
Vol. 22
Issue 4
Pg. 506-11
(Jul 2001)
ISSN: 1531-7129 [Print] United States |
PMID | 11449109
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
|
Topics |
- Child, Preschool
- Chromosome Aberrations
(genetics)
- Chromosome Disorders
- Fatal Outcome
- Hearing Loss, Sensorineural
(diagnosis)
- Humans
- Male
- Nerve Degeneration
(pathology)
- Pedigree
- Point Mutation
(genetics)
- Severity of Illness Index
- Spiral Ganglion
(pathology)
- Syndrome
- Temporal Bone
(pathology)
- X Chromosome
(genetics)
|