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Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses
F S Haddad1, D H Jones, A Vellodi
1Hospital for Sick Children, London, England.
Insights
Children with mucopolysaccharidosis or mucolipidosis experience hand dysfunction due to carpal tunnel syndrome. Early surgical decompression and physiotherapy significantly improve hand and upper limb function in these patients.
Area of Science:
- Pediatric Orthopedics
- Neurology
- Genetics
Background:
- Mucopolysaccharidoses (MPS) and mucolipidoses (ML) cause progressive musculoskeletal issues, including median nerve dysfunction.
- Improved survival from bone-marrow transplantation highlights unmet needs in managing progressive hand disability.
- Carpal tunnel syndrome (CTS) is a significant complication impacting hand function in affected children.
Purpose of the Study:
- To characterize carpal tunnel syndrome in children with MPS/ML.
- To evaluate the effectiveness of surgical decompression and physiotherapy for hand function.
- To establish an assessment and management protocol for optimizing upper limb function.
Main Methods:
- Retrospective review of 48 children with MPS/ML undergoing carpal tunnel decompression.
- Assessment included clinical symptoms, physical signs, radiological, electrophysiological, and operative findings.
- Evaluation of pre- and post-operative upper limb function, with follow-up on physiotherapy regimens.
Main Results:
- Pediatric CTS presents differently than adult CTS, with more common signs (e.g., decreased sweating, atrophy, wasting) than symptoms.
- Operative findings revealed thickened flexor retinaculum, tenosynovium, and nerve constriction with epineural thickening.
- Early decompression led to functional improvement, with additional benefit from simultaneous tendon release and consistent physiotherapy.
Conclusions:
- Carpal tunnel syndrome is a distinct clinical entity in children with MPS/ML, characterized by specific physical signs.
- Early surgical intervention combined with comprehensive physiotherapy is crucial for maximizing hand and upper limb function.
- A standardized protocol for assessment and management can improve outcomes for these complex pediatric patients.
Abstract:
Children with a mucopolysaccharidosis or mucolipidosis suffer progressive disability of the hands, particularly in relation to dysfunction of the median nerve. This is an increasing problem because bone-marrow transplantation has dramatically improved survival without apparently changing the musculoskeletal manifestations. We have reviewed 48 children with these syndromes who required carpal tunnel decompression, recording symptoms, signs, radiological, electrophysiological and operative findings, histology and upper-limb function. In these children the carpal tunnel syndrome differs from that seen in adults. Symptoms are rare but signs such as decreased sweating, pulp atrophy, thenar wasting and manual clumsiness are much more common. At operation, the flexor retinaculum was thickened and a mass of white tenosynovium engulfed the flexor tendons. Most patients had some definite nerve constriction with a thickened epineurium. Functional improvement was seen after early decompression, with some benefit from simultaneous tendon release. Regular physiotherapy helped to maintain increased hand movement. We describe our assessment protocol, the physiotherapy and operative regime and the standard functional review which helps to maximise function in the hands and upper limbs of these children.