Abstract
<title>Abstract</title> <p> <bold>Introduction:</bold> Hurler syndrome, or mucopolysaccharidosis type I (MPS I), is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-L-iduronidase (IDUA). Hurler syndrome presents in infancy as rapidly progressive, multisystemic disease with severe disease. Although extremely rare, adult-onset Hurler syndrome is not frequently mistaken, particularly in geographic areas that do not have genetic or enzymatic testing. <bold>Case Presentation:</bold> A 27-year-old woman with generalized swelling, increasingly progressive shortness of breath, and headaches presented. Clinical examination found coarse facial features, shorter height and neck length, broad hands, joint stiffness, and kyphosis. In addition, there was significant hepatosplenomegaly, as well as mild cognitive impairment. The biopsy findings reported dysostosis multiplex with bullet-shaped metacarpals, beaked vertebrae, and shallow acetabula. High resolution CT chest reported interstitial lung disease with severe pulmonary hypertension and MRI of the brain reported pituitary hyperplasia. Laboratory tests found significant hyperprolactinemia (33.8 ng/mL), microcytic anemia, thrombocytopenia, lymphopenia, and significant proteinuria (albumin-to-creatinine ratio 7357 mg/g). While there were no available enzyme findings, the clinical findings and radiology findings were consistent with Hurler syndrome. She was treated with bromocriptine, pulmonary vasodilators, and supportive measures and had symptomatic improvement. <bold>Discussion:</bold> This case is remarkable for its late-onset presentation, along with pituitary hyperplasia and hyperprolactinemia—rarely described in Hurler syndrome. Severe pulmonary hypertension further complicated management. The absence of enzyme assays highlights diagnostic challenges in under-resourced settings, where clinical judgment is critical. <bold>Conclusion:</bold> This case expands the clinical spectrum of MPS I and illustrates how individuals with unexplained multisystem disease should be evaluated for lysosomal storage disorders. Early identification, even without testing to confirm the presence of MPS I, can help guide interventions that greatly enhance quality of life. </p>