Bilateral Carpal Tunnel Syndrome in Two Children: Common Manifestation of an Uncommon Disease

Abstract

Carpal tunnel syndrome (CTS) is a rare entity in children and usually has a different clinical presentation than in adults. The majority of these cases are related to a genetic condition. The most common aetiology is a lysosomal storage disease such as mucopolysaccharidoses or mucolipidoses (ML). Two siblings with bilateral median nerve neuropathy, wrist contractures and skeletal deformity on a background of mild facial coarsening and normal cognition are presented. There was a family history of similar complaints in first cousins. Nerve conduction studies were suggestive of bilateral median neuropathy with conduction block at the wrists. Biochemical investigation showed high levels of plasma lysosomal enzymes. Both patients underwent bilateral flexor retinaculum release. The findings at surgery were severe compression of the median nerve by the thickened flexor retinaculum. The histopathology of the thickened tissue showed a fibrosed and vascularised flexor retinaculum. On electron microscopy, macrophages with membrano-vacuolated inclusion zebra bodies were seen. Both patients had an uneventful recovery with symptomatic improvement. CTS is rarely seen in children except in association with genetic disorders. There is usually a delay in the diagnosis as attention is paid to the contractures rather than to the median nerve compression. The presence of CTS is typically seen in ML types II and III. Surgical intervention helps in improving the quality of life and hand function of these patients.

Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology

“…[4][5][6] The typical clinical symptoms include short stature, cardiac valve involvement, normal intelligence or mild mental retardation, normal corneal appearance or steaminess of the cornea, and scoliosis and skeletal and orthopedic complications including hand and shoulder stiffness, claw-hand deformities, short iliac wings, erosion of the femoral heads, dysostosis multiplex of the vertebral bodies, long bones, skull, phalanges and clavicles with no to mild organomegaly. [3][4][5][6][7] Cardiopulmonary complications are the usual reasons of mortality in patients with ML III. Aortic and mitral valve insufficiencies are the most common forms of cardiac involvement.…”

“…8 The differential diagnoses of ML should include juvenile idiopathic rheumatoid arthritis, mucopolysaccharidoses, oligosaccharides and progressive pseudorheumatoid arthritis of childhood. 6,7 The therapeutic methods for ML III are essentially symptomatic treatment and genetic counselling. Intravenous pamidronate has been used in order to reduce bone pain and improve mobility.…”

“…Prenatal diagnosis is possible by assay of the enzyme in cultured amniocytes or chorionic villus cells or by molecular genetic analysis. [5][6][7][8] Due to the manifestations in the skeletal system and involvement of joints in ML, the first application should be to the clinics of pediatric rheumatology. Family history, consanguinity, lack of pain and inflammation are key points to consider for the diagnosis of this rare disease.…”

Ultrasonographic evaluation of the median nerve at the level of the carpal tunnel outlet and mid forearm in patients with type II Mucopolysaccharidosis

“…The few studies that have been made reveal a high frequency of the CTS in patients with MPS [8,9]. The diagnosis is usually established based on the clinical exam or nerve conduction studies.…”

Congenital Bilateral Thenar Amyotrophy due to Carpal Tunnel Narrowing

“…In pediatric patients, median nerve (MN) mononeuropathy is rarely documented. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] In this population, TMA has more often been attributed to malformations of the radial carpal bones (►Table 1), the most frequent of which is a regional defect known as Cavanagh syndrome. 3 Structural malformations cause the atrophy through different mechanisms, among which are disuse arising from low joint motility, anomalous muscle insertion, and muscle agenesis and/or hypoplasia.…”