RT Journal Article
SR Electronic
T1 A CLEAN PAIR OF HEELS; LEUKODYSTROPHY IN A 40 YEAR OLD MALE
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP e4
OP e4
DO 10.1136/jnnp-2014-309236.91
VO 85
IS 10
A1 Reynolds, Lucy
A1 Mackinnon, Andrew
A1 Metta, Vinod
A1 Warner, Graham
YR 2014
UL http://jnnp.bmj.com/content/85/10/e4.207.abstract
AB 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.