ArticleCureus2026
A Rare Case of Mucopolysaccharidosis Presenting With Dysostosis Multiplex and Preserved Intelligence in a Seven-Year-Old Girl From Northeast India.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by a deficiency of enzymes required for the degradation of glycosaminoglycans (GAGs). These disorders are characterized by progressive multisystem involvement, including skeletal deformities, organomegaly, and variable neurocognitive impairment. We report a case of a seven-year-old girl presenting with recurrent respiratory complaints. Clinical examination revealed coarse facial features, short stature, short neck, hepatomegaly, joint stiffness, corneal clouding, and hearing impairment. Radiological findings showed features of dysostosis multiplex, including J-shaped sella turcica and oar-shaped ribs. Urinary GAG was positive. Cognitive function was normal. Based on clinical and investigative findings, a diagnosis of MPS type I-S (Scheie syndrome) or mild MPS type VI (Maroteaux-Lamy syndrome) was considered. This case highlights the importance of early clinical suspicion of MPS in children presenting with multisystem involvement and skeletal abnormalities, even in the presence of preserved intelligence. Early diagnosis is crucial for timely management and genetic counseling.
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