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- Title
Cockayane Syndrome with Neurological Features: A Case Report.
- Authors
Sritharan, B.; Birlapavalam, M.; Balamurali, K.; Muthuveeran, N.; Manivannan, R.; Chandrasekaran, M.
- Abstract
Cockayane Syndrome with Neurological Features -- A Case Report 15 year old male born of 3rd degree consanguinous parents with negative family history, normal birth history and milestone with poor weight & length / height gain with progeric appearance with characteristic cockayane phenotype, poor scholastic performance presented with in coordination of all four limbs in the past three years. Clinical examination revealed pancerebellar signs. MRI showed diffuse cortical atrophy, inferior cerebellar vermis atrophy, cerebellar atrophy, bilateral putaminal hyperintensites in T2W, hypodensites of same areas in T2W and flair suggestive of cockayane syndrome. Examination of eye was normal. Now patient has minimal functional disability and he is under observation for progression of symptoms. This case is being presented for the typical progeric phenotype without ocular manifestations and for the age of the patient, since life expectancy is approximately 12 years in all reported cases of cockayane syndrome.
- Subjects
NEUROLOGICAL disorders; PROGERIA; MEDICAL screening; MAGNETIC resonance imaging; PHENOTYPES; OCULAR manifestations of general diseases; LIFE expectancy
- Publication
Annals of Indian Academy of Neurology, 2007, Vol 10, p56
- ISSN
0972-2327
- Publication type
Abstract