[Neurological presentation of late-onset methylomalic aciduria].
OBJECTIVE
Late-onset methylomalic aciduria is hardly recognized and easily misdiagnosed. This study was aimed enhance the recognition of late-onset methylomalic aciduria.


METHODS
The clinical data of 6 cases with late-onset methylomalic aciduria were analyzed and relevant literature was reviewed.


RESULTS
Late-onset methymalonic aciduria was a group of clinically heterogeneous disease, presenting with acute or subacute encephalopathy involving also pyramidal tract, peripheral nerve and visual apparatus. Brain MRI may reveal cerebral atrophy and abnormal white matter signal.


CONCLUSIONS
The diagnosis of methylomalic aciduria should be considered in patients with neurological symptoms and signs unexplained by common neurological diseases, especially presenting with pyramidal tract and/or peripheral nerve symptoms.
Wang
Xian-ling
XL
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Li
Cun-jiang
CJ
D000293:Adolescent; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis*; D055815:Young Adult