Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses

Abstract

The mucopolysaccharidoses (MPS) are a common cause of carpal tunnel syndrome (CTS) in children and adolescents. As the MPS diseases are progressive in nature, it is essential that CTS in these children is readily diagnosed and treated, before damage to the median nerve becomes irreversible. Currently, no standards for diagnosing and treating CTS associated with MPS exist. Proper diagnosis of CTS generally involves the assessment of clinical signs and symptoms, in combination with nerve conduction studies. As the clinical signs and symptoms of CTS described for adults are often absent in children with MPS, early diagnosis of CTS in these children requires recognition of subtle findings such as decreased sweating, nocturnal waking, gnawing of hands, and manual clumsiness. Sensory tests could also be useful for detecting early CTS when the integrity of the nerve is still relatively intact. Nerve conduction velocities, which are the gold standard for diagnosing CTS, can be difficult to perform in patients with MPS and should be adapted to the patients' clinical characteristics such as their abnormally small hands and young age. Ongoing monitoring for CTS is indicated for all MPS patients, including those treated with hematopoietic stem cell transplantation or enzyme replacement therapy.

Carpal tunnel syndrome in mucopolysaccharidosis I: a registry‐based cohort study

“…Therefore, we do not discuss information on CTS prevalence for patients There are currently no accepted standard procedures for diagnosing CTS in MPS I. 12 Given the lack of standard guidelines, some clinicians may use only clinical history and physical examinations to assess CTS; however, this approach may result in delays in both diagnosis and corrective surgery for patients with MPS I. Waiting for symptoms to develop, especially in patients with severe disease where communication is impaired, may result in irreversible nerve damage.…”

“…9 Routine electrophysiological testing for patients with MPS I is controversial because the sensitivities identified in adult populations without MPS I (ranging between 49% and 84%) may not be transferrable to pediatric populations, and are associated with false-positive and false-negative results. 12 Electrophysiological assessments in pediatric patients with MPS I, which must be performed by experienced neurologists, can be difficult to perform and may require anesthesia because of lack of cooperation from patients. 9,10 Physicians may make a diagnosis of CTS on the basis of symptoms alone and proceed directly to surgery, or conduct electrophysiological tests immediately preceding surgery when the patient is already sedated.…”

“…9,10 A diagnosis of CTS is often not made until thenar wasting and loss of function are apparent. 12 CTS is present across the spectrum of MPS I phenotypes. 10 Excessive tissue GAG leads to thickening of the flexor retinaculum as well as the tenosynovium, 13 resulting in impaired tendon excursion and the typical 'claw' deformity with flexed distal interphalangeal joints.…”

“…10 Excessive tissue GAG leads to thickening of the flexor retinaculum as well as the tenosynovium, 13 resulting in impaired tendon excursion and the typical 'claw' deformity with flexed distal interphalangeal joints. 12,14 If untreated, severe median nerve compression can result in irreversible damage. 10 Given the often subtle symptomatology in patients with MPS I, nerve conduction studies are recommended to confirm diagnosis.…”

Tarsal tunnel syndrome in the mucopolysaccharidoses: A case series and literature review

“…4 Routine neurophysiological CTS screening is recommended to allow early surgical decompression and prevent permanent impairment. 5 Other nerve entrapment syndromes occur less commonly in MPS, 6 including tarsal tunnel syndrome (TTS): compression of the posterior tibial nerve as it passes inferiorly to the flexor-retinaculum within its fibro-osseous tunnel 7 (Figure 1).…”