source: Neurology India

authors: Saraf UU,Jose J,Krishnan S,Sreedharan SE

Mucopolysacharidosis type I is a multisystem disease and often presents with neurobehavioral problems, corneal clouding, cardiac valve involvement, hepatomegaly, coarse facies, and skeletal abnormalities. It has three subtypes – with Hurler subtype (MPS-1H) being the most severe phenotype with early neurological involvement, rapid progression and mortality, while the other two subtypes – Hurler-Scheie (MPS-1H/S) and Scheie (MPS-1S) are of intermediate and milder severity, respectively. Even though neuropsychiatric symptoms have often been reported in the pediatric age group, MPS type I presenting as a major psychiatric illness in adulthood has rarely been reported in literature. Here, we report a female presenting as bipolar affective disorder in the fourth decade of life, where neuroimaging and systemic involvement gave a clue to the diagnosis.

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