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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Mucopolysacharidosis Type I Presenting as Bipolar Affective Disorder: A Case Report.
Neurol India
January 2022
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum-11, India.
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.
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Methods: Clinical data, activity of the IDUA enzyme in leukocytes, and a mutation of the IDUA gene were analyzed.
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This follow-up study of a subgroup of the patients seen in a natural history study of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A) addressed the adaptive and medical characteristics of their advanced disease manifestations. Of the original 24 patients, specific data was collected on only 58% primarily due to difficulty in locating families and coordinating time for interviews two to four years after the original study. At the last contact with the patient, age range was 8 to 24years of age.
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Mucopolysaccharidosis type VI, Maroteaux-Lamy syndrome is a lysosomal storage disorder with progressive, multisystem involvement caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase leading to accumulation of the glycosaminoglycan, keratan sulfate. Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals. A combined treatment regime of ERT and hemopoietic stem cell transplantation (HSCT) has led to reduced morbidity and mortality in patients with MPS I.
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