A CLEAN PAIR OF HEELS; LEUKODYSTROPHY IN A 40 YEAR OLD MALE. Issue 10 (9th September 2014)

• Record Type: Journal Article
• Authors: Reynolds, Lucy; Mackinnon, Andrew; Metta, Vinod; Warner, Graham
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 85:Issue 10(2014)
• Page Start: e4
• Page End: e4
• Publication Date: 2014-09-09
• Subjects: EPILEPSY; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2014-309236.91
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : A 40 year old man presented with a slowly progressive history of worsening gait unsteadiness and cognitive decline for further review, following several recent falls. A spastic paraparesis was present on examination, without cerebellar or extrapyramidal signs. Previous and current imaging was reexamined and found to be consistent with leukodystrophy despite previously being reported as 'normal'. Retrospective history of first cousin marriage and the patient's bilateral juvenile cataract removal was elicited from his family. Cerebrotendinous xanthomatosis was subsequently diagnosed on biochemical testing and despite lack of tendon xanthomata.