Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience

Abstract

Introduction: Mucopolysaccharidoses (MPS) are rare and clinically heterogeneous lysosomal storage disorders. Carpal tunnel syndrome (CTS) is a frequent complication in MPS types I, II, VI, and VII. CTS symptoms are difficult to recognize in these children, and often there is a lack of appropriate investigations. Patients and methods: In this retrospective study, all MPS patients were referred to the electrodiagnostic (EDX) laboratory of a single academic center during a 10-year period. Forty-eight children underwent serial EDX studies for CTS diagnosis and follow-up after surgery. Forty-two patients were diagnosed with CTS. Sensory nerve conduction velocity (SNCV), distal motor latency (DML), and motor nerve conduction velocity through the wrist (MNCV-W) of the median nerve were reviewed and analyzed. Results: One-hundred-three EDX examinations were performed on 48 patients. The median age at disease diagnosis was 2.1 years versus 4.9 years for CTS diagnosis. Analysis of the series revealed that electrophysiological abnormalities of CTS could have started much earlier (before the age of 2 years or at diagnosis of MPS). Diagnosis was based on SNCV and DML results, and MNCV-W was taken into consideration. Bilateral CTS was frequent (88%) in the types of MPS studied in our population and was observed from the first year of life, and may not have be associated with obvious clinical symptoms. EDX studies also helped in the follow-up and detection of CTS relapses, thus leading to an early intervention allowing a better recovery. Conclusion: EDX studies should be performed promptly and regularly in these patients. Prospective studies are required in order to understand the effect of disease-specific therapies in preventing the development of CTS in these patients. Synopsis: EDX studies should be performed in MPS patients soon after diagnosis and during routine follow-up, before and after surgical decompression.

Early Recurrent Carpal Tunnel Syndrome in Patients with Mucopolysaccharidoses

“…CTS is a well-known finding in MPS patients, but recurrent CTS after surgical release had not been a frequent concern until advances in management of MPS that have extended patients’ life expectancy. 4 A recent study reported pediatric patients with metabolic disease who are experiencing recurrent CTS. 8 The mean age of initial diagnosis of CTS in MPS patients is 3–11 years.…”

“… 3 The current literature supports early surgical management for MPS patients and does not recommend conservative management because delayed surgeries have correlated with a poor outcome. 4 However, surgeries expose this patient population to the risks of general anesthesia, which are compounded by difficult airways and other medical comorbidities. 9 Due to their young age and common developmental delays, IV sedation or local/regional anesthesia is often not an option, and emergent intubation can be highly dangerous in these patients.…”

“… 2 , 3 Furthermore, up to 14% of patients experience recurrence after the initial operation, with the timing varying from 1 to 11 years. 4 , 5 …”

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

“…In most patients, the initial symptom of cord compression is numbness in both hands. A neck extension test (considered positive if a patient feels numbness in both hands when they extend their neck), Phalen's test, and Tinel's sign are necessary for diagnosis because carpal tunnel syndrome is also common in MPS I, II, and III [15,40,41].…”

Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children

“…Characteristics of median nerve ultrasound studies consist of an increase of both the cross-sectional area (CSA) at the wrist and the wristto-forearm ratio (WFR) [6]. For the majority of pediatric CTS cases, an underlying cause can be found, in particular hereditary metabolic conditions with mucopolysaccharidoses and mucolipidoses as the largest disease group, followed by congenital malformations, connectivopathies, endocrinopathies, and acquired lesions like malignancies or tumor-like and traumatic lesions [2,3,[7][8][9].…”