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

• Published in: Curēus (Palo Alto, CA) Vol. 16; no. 5; p. e60593
• Main Authors: Sachani, Pratiksha, Dhande, Rajasbala, Parihar, Pratapsingh, Bothara, Shivani S, Kasat, Paschyanti R
• Format: Journal Article
• Language: English
• Published: Palo Alto Cureus Inc 19.05.2024; Cureus
• Subjects: Calcification; Case reports; Enzymes; Genetic disorders; Genetic testing; Growth hormones; Hydrocephalus; Internal Medicine; Magnetic resonance imaging; Medical Education; Metabolic disorders; Mitral valve stenosis; Pediatrics; Quality of life
• ISSN: 2168-8184; 2168-8184
• DOI: 10.7759/cureus.60593

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.