Cerebrotendinous xanthomatosis, early diagnosis mandatory: Report of a case from North India
- Author:
Sanjeev Jha
;
Mohd Khateeb
;
Kamlesh Sonker
- Publication Type:Case Reports
- From:Neurology Asia
2008;13(1):125-128
- CountryMalaysia
- Language:English
-
Abstract:
A 30 year old male presented with insidious onset of painless swellings in tendons over 20 years, with
learning difficulty, tremors, progressive instability of gait and frequent falls. There was no similar
illness in family. On examination, there was firm, non tender, nodular swelling Achilles, patellar and
tricep tendon, clubbing of fingers. The Mini Mental Status Examination score was 16/30. Plantar
response was extensor. There was cerebellar signs with nystagmus, truncal titubation, ataxic gait
and intentional tremors. Cranial MRI showed bilateral hyperintensities in dentate nucleus, globus
pallidus, periventricular white matter on FLAIR/T2 sequences, and diffuse cerebral and cerebellar
atrophy. The patient was diagnosed as having cerebrotendinous xanthomatosis based on the clinical
and radiological features. As cerebrotendinous xanthomatosis benefit from therapy and progress of
the disease is preventable, the case illustrates the need for early diagnosis.
- Full text:P020150901427171142242.pdf
