Novel Insights from Clinical Practice Pediatr Neurosurg 2013;49:300–302 DOI: 10.1159/000365762

Received: April 7, 2014 Accepted after revision: July 5, 2014 Published online: September 30, 2014

Bilateral Carpal Tunnel Syndrome in Two Children: Common Manifestation of an Uncommon Disease Raman Sharma a Sudheesh Ramachandran a Dhananjaya Bhat a P.S. Bindu b B. Indira Devi a Departments of a Neurosurgery and b Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India

Established Facts • Carpal tunnel syndrome is an unusual presentation in children. • Its most common causes are lysosomal storage diseases (especially mucolipidoses and mucopolysaccharidoses).

Novel Insights • Diagnosis and treatment are delayed due to the atypical presentation and skeletal dysplasia associated with CTS in such children. • Surgical intervention and physiotherapy can help immensely in improving the quality of life.

Key Words Central nervous system · Carpal tunnel syndrome, bilateral

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. © 2014 S. Karger AG, Basel

© 2014 S. Karger AG, Basel 1016–2291/14/0495–0300$39.50/0 E-Mail [email protected] www.karger.com/pne

Dr. B. Indira Devi National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore 560029 (India) E-Mail bidevidr @ gmail.com

Introduction

Case Report Two sisters aged 13 and 8 years presented with a history of remote consanguinity. The mother noticed that both children were suffering from stiffness and progressive deformity of the hands from 2 years of age. Both children had refractory error and gait disturbances since the age of 5 years. There was reduced pain and touch sensation in the thumb, index and middle finger on both sides. There were no cardiorespiratory complaints, and no cognitive decline or regression of milestones occurred. There is a history of similar illness in their cousin brother.

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Carpal tunnel syndrome (CTS) is a rare entity in children. Three cases of CTS in the paediatric population were reported by Martin and Masse [1] in 1958. These patients improved with surgical decompression. They could not establish a definite diagnosis for them. Subsequent studies have shown that the majority of such cases are related to genetic disorders and the most common aetiology was a lysosomal storage disease such as mucopolysaccharidoses (MPS) and mucolipidoses (ML) [2, 3]. Both disorders are progressive and have similar clinical features varying between developmental delay, facial dysmorphism, hepatosplenomegaly and neurological deficits. The disease has a wide spectrum ranging from reduced life expectancy in the severe form to an almost normal clinical phenotype and life span in the less severe variants [4]. Though the clinical features vary widely

within the groups, musculoskeletal involvement is similar and is the earliest and common feature with which patients present [5]. CTS has been reported by many studies in association with MPS I, MPS II (Hunter syndrome), MPS VI, ML II and ML III [6–11]. Two cases of siblings suffering from ML with deformity and inability to use the hand due to CTS are presented here.

Fig. 1. Clinical photograph showing the

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contractures of the fingers and wrists.

Fig. 2. Electrophysiology of the median nerve at the wrist.

Bilateral Carpal Tunnel Syndrome in Two Children

Pediatr Neurosurg 2013;49:300–302 DOI: 10.1159/000365762

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Both patients had normal cognition and mild facial coarsening. There was no organomegaly. On ophthalmic examination there was no corneal clouding, which was confirmed by slit lamp examination. Best-corrected visual acuity was 6/9 bilaterally, and the fundoscopic findings were normal. Contractures were present bilaterally at the elbow as well as the metacarpophalangeal and interphalangeal joints. There was stiffness of the wrist with restricted dorsiflexion (fig. 1) and severe thenar atrophy. On neurological examination there was reduced touch sensation by 50–75% in the median nerve distribution of the palm. There was complete loss of pain and temperature sensation in the same distribution. There was gross weakness of the bilateral abductor pollicis brevis and restricted flexion in both the index and middle finger. Other findings were genu valgum, hallux valgus and exaggerated lumbar lordosis. The findings were similar in the two sisters. There was no Tinel sign. Subsequently, biochemical and radiological investigations were made. The haemogram with peripheral smear was normal. The urine was negative for abnormal metabolites. Biochemical investigation showed high levels of plasma lysosomal enzymes (aryl sulphatase, hexosaminidase, α-mannosidase and α-fucosidase). The corresponding levels in leucocytes were found to be normal. The serum levels of calcium, phosphorus and alkaline phosphatase were normal. A nerve conduction study revealed bilateral median neuropathy with conduction block at the wrists suggestive of CTS (fig. 2). On a clinical and neurophysiological basis, the diagnosis of CTS was made. Both patients underwent bilateral hand surgery under field block. In each of the four hands, an extended midpalmar skin incision was made across the wrist crease. The flexor retinaculum was thickened and compressing the underlying median nerve. It was cut completely, and the median nerve was released both proximally and distally. Thenar branches were not exposed. Part of the flexor retinaculum was taken for biopsy. The flexor tendons were covered with thickened, shiny, white tenosynovium. Release of the tendons was performed and a biopsy of the thickened tissue was also sent. The wound was closed with Vicryl 3-0 subcuticular sutures and a dry dressing was applied. The dressing was removed the following day and the patients were advised to do passive stretching exercises. There were no wound complications.

Both patients and the family members noticed an improvement in movement of the thumb and the fingers. 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.

Discussion

CTS has an unusual presentation in children with storage disorders. Skeletal dysplasia may be thought to account for these disabilities. CTS leading to various signs and disability is not usually paid attention to. The interpretation of neurophysiological investigations is also difficult in these children [12]. Haddad et al. [10] and Wraith and Alani [11] stated that pulp atrophy, thenar wasting, thumb weakness and decreased sweating are more common than impaired sensation, Phalen sign and trophic changes. Musculoskeletal complication due to skeletal dysplasia and thickened ligaments due to storage lead to various disabilities. Median nerve compression occurs as a result of thickening of the flexor retinaculum, thickened tendon sheath and venous engorgement [13]. Early suspicion of CTS and surgical intervention immensely improve the hand function and general well-being. Both of our patients had improvement, which may be because of surgical release of the median nerve and tendon sheath and physiotherapy. There was no improvement in power. A high degree of suspicion as well as evaluation by nerve conduction examination are advised in these children to prevent a delay in diagnosis and to improve the quality of life by release of the flexor retinaculum.

References 1 Martin C, Masse P: Carpal tunnel syndrome in children (in French). Arch Fr Pediatr 1958;15: 930–940. 2 Van Meir N, De Smet L: Carpal tunnel syndrome in children. Acta Orthop Belg 2003;69: 387–395. 3 Poilvache P, Carlier A, Rombouts JJ, Partoune E, Lejeune G: Carpal tunnel syndrome in childhood: report of five new cases. J Pediatr Orthop 1989;9:687–690. 4 Wraith JE: Mucopolysaccharidoses and mucolipidoses. Handb Clin Neurol 2013; 113: 1723–1729. 5 Morishita K, Petty RE: Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford) 2011;50(suppl 5):v19–v25.

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6 Gellis SS, Feingold M, Kelly TE: Picture of the month. Am J Dis Child 1975;129:1059–1060. 7 Miner ME, Schimke RN: Carpal tunnel syndrome in pediatric mucopolysaccharidoses. Report of four cases. J Neurosurg 1975; 43: 102–103. 8 Starreveld E, Ashenhurst EM: Bilateral carpal tunnel syndrome in childhood. A report of two sisters with mucolipidosis III (pseudoHurler polydystrophy). Neurology 1975; 25: 234–238. 9 MacDougal B, Weeks PM, Wray RC Jr: Median nerve compression and trigger finger in the mucopolysaccharidoses and related diseases. Plast Reconstr Surg 1977;59:260–263.

Pediatr Neurosurg 2013;49:300–302 DOI: 10.1159/000365762

10 Haddad FS, Jones DH, Vellodi A, Kane N, Pitt MC: Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. J Bone Joint Surg Br 1997;79:576–582. 11 Wraith JE, Alani SM: Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders. Arch Dis Child 1990;65:962–963. 12 Meyer-Marcotty MV, Kollewe K, Dengler R, Grigull L, Altintas MA, Vogt PM: Carpal tunnel syndrome in children with mucopolysaccharidosis type 1H: diagnosis and therapy in an interdisciplinary centre (in German). Handchir Mikrochir Plast Chir 2012;44:23–28. 13 al-Qattan MM, Thomson HG, Clarke HM: Carpal tunnel syndrome in children and adolescents with no history of trauma. J Hand Surg Br 1996;21:108–111.

Sharma/Ramachandran/Bhat/Bindu/Devi

Copyright: S. Karger AG, Basel 2014. Reproduced with the permission of S. Karger AG, Basel. Further reproduction or distribution (electronic or otherwise) is prohibited without permission from the copyright holder.

Bilateral carpal tunnel syndrome in two children: common manifestation of an uncommon disease.

Carpal tunnel syndrome (CTS) is a rare entity in children and usually has a different clinical presentation than in adults. The majority of these case...
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