Adult-onset metachromatic leukodystrophy with compound heterozygous ARSA gene mutation presented with mania and cognitive decline
- Author:
Kok-Yoon Chee
;
Nor Azimah Abd Azize
;
Norzaini Rose Mohd Zain FRCR
;
Phaik-Yee Ooi
;
Loi-Khim Chin
;
Affandi Omar
;
Yusnita Yakob
;
Julaina Abdul Jalil
- Publication Type:Case Reports
- MeSH:
Leukodystrophy, Metachromatic
- From:Neurology Asia
2016;21(2):199-201
- CountryMalaysia
- Language:English
-
Abstract:
Adult-onset metachromatic leukodystrophy is often a diagnostic challenge to many clinicians. It may
be presented with psychiatry symptom before other evidences of leukodystrophy are uncovered. We
report a 53-year-old patient who presented with 7-year history of manic-like presentation in addition to
progressive neurocognitive deterioration. Diagnosis was made eventually with neuroimaging. Mutational
analysis showed compound heterozygous of ARSA gene. This case demonstrated the challenge in
diagnosing this condition due to its complex neuropsychiatric presentation.
- Full text:P020160714428864892685.pdf
