Carpal tunnel syndrome in children with mucopolysaccharidosis and related disorders

Area of Science:

• Pediatric Orthopedics
• Rare Genetic Disorders
• Neurology

Background:

• Mucopolysaccharidoses (MPS) and mucolipidoses (ML) are rare inherited metabolic disorders.
• These conditions can lead to multisystemic complications, including potential neurological involvement.
• Carpal tunnel syndrome (CTS) is a recognized, though less common, complication in pediatric MPS/ML patients.

Observation:

• This study presents four pediatric cases with a concurrent diagnosis of MPS/ML and carpal tunnel syndrome.
• Patients exhibited symptoms consistent with nerve compression in the wrist.
• Clinical and electrodiagnostic assessments were performed to evaluate the severity of CTS.

Findings:

• All four children underwent surgical carpal tunnel release.
• Post-operatively, all patients demonstrated marked clinical improvement, with symptom resolution.
• Electrodiagnostic studies confirmed significant improvement in nerve conduction, indicating successful decompression.

Implications:

• Carpal tunnel release is a viable and effective treatment for pediatric patients with MPS/ML-associated CTS.
• Early diagnosis and surgical intervention can significantly improve functional outcomes and quality of life.
• This highlights the importance of considering nerve entrapment syndromes in the differential diagnosis of pediatric patients with these rare genetic conditions.