Cureus · 7 authors, 4 centres
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This is a case report describing a 3-year-old Saudi male with Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) who presented with recurrent chest infections and multiple systemic symptoms. The report details his clinical journey from symptom onset in infancy to diagnosis and treatment.
This is a case report of a 3-year-old Saudi male with mucopolysaccharidosis type VI. The patient was born healthy but presented with nasal obstruction and respiratory symptoms at two months of age, leading to multiple admissions for recurrent respiratory infections, bronchiolitis, pneumonia, and asthma. Clinical examination revealed dysmorphic features, hepatosplenomegaly, skeletal deformities, and cardiac valve abnormalities (thickened bicuspid aortic valve, mild aortic and mitral regurgitation). The diagnosis was confirmed by genetic study. The patient was treated with enzyme replacement therapy and conservative management for respiratory infections. The report highlights the typical multi-systemic involvement of MPS VI, including respiratory, cardiac, and skeletal systems, and emphasizes the importance of early diagnosis and treatment to slow disease progression.
