Multisystem Involvement in a Pediatric Patient With Suspected Mucopolysaccharidosis: A Case Report

TL;DR

This case report describes an 11-year-old boy with multiple health issues that suggest a rare metabolic disorder called mucopolysaccharidosis.

Contribution

The case emphasizes the importance of considering MPS in patients with multisystem symptoms and the role of MRI in diagnosis.

Findings

The patient showed dysmorphic features, short stature, and brain imaging findings consistent with MPS.

Multisystem involvement and advanced imaging were key in guiding the diagnostic process.

A multidisciplinary approach is essential for managing MPS and improving outcomes.

Abstract

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders characterized by the deficiency or malfunction of lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. We present the case of an 11-year-old male with a history of calcified mitral valve, rheumatic heart disease, and growth hormone deficiency who presented with dyspnea on exertion. Physical examination revealed dysmorphic facial features, short stature, and suboptimal weight and height parameters. Magnetic resonance imaging (MRI) of the brain showed cystic lesions in the white matter and corpus callosum, hydrocephalus, and cerebral atrophy, suggestive of MPS. This case highlights the importance of considering MPS in the differential diagnosis of patients with multisystemic involvement and the utility of advanced imaging techniques like MRI in guiding diagnosis and management. A multidisciplinary approach involving cardiology, endocrinology, genetics, and neurology is crucial for comprehensive management and improving patient outcomes. Early diagnosis and intervention are essential in optimizing the quality of life for patients with MPS.

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