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Carpal Tunnel Syndrome in Children With Mucopolysaccharidosis: Pathogenesis, Diagnosis, and Management

March 01, 2019

Contributors: Alice Chu, MD; Dylan Lowe, MD; Michael T Milone, MD; Michael T Milone, MD

Bilateral carpal tunnel syndrome is common in children with mucopolysaccharidoses, which are a spectrum of rare inherited lysosomal storage diseases that involve incomplete metabolism of glycosaminoglycans. The improperly degraded biproducts affect connective tissues, leading to thickening of the transverse carpal ligament and carpal tunnel syndrome. Diagnosis of carpal tunnel syndrome in these patients is a challenge because of communication barriers, other medical conditions, and, often, the inability to perform nerve conduction studies on an uncooperative patient. However, early diagnosis and management are important to minimize morbidity. This video highlights the challenge of diagnosing carpal tunnel syndrome in children with mucopolysaccharidosis and demonstrates carpal tunnel release in a child with mucopolysaccharidosis. This video provides an overview of the pathogenesis, diagnosis, and management of carpal tunnel syndrome in patients with mucopolysaccharidoses followed by a discussion of the indications for open surgical management. The video also discusses the results of carpal tunnel release in children with mucopolysaccharidosis from the literature. The video discusses the case presentation of a nonverbal 13-year-old girl with type VI mucopolysaccharidosis and bilateral carpal tunnel syndrome. The patient presented with gnawing of both hands. A diagnosis of bilateral carpal tunnel syndrome was confirmed via nerve conduction studies and wrist ultrasonography. Bilateral carpal tunnel release was performed. The video demonstrates the patient’s physical examination, intraoperative findings, and follow-up results. Complete open decompression of the median nerve was performed, and bilateral thickening of the transverse carpal ligaments was confirmed intraoperatively. By 6 weeks postoperatively, the patient’s mother reported decreased finger biting and an increase in hand use. Carpal tunnel syndrome in patients with mucopolysaccharidosis often presents as subtle findings and, therefore, may be overlooked. Diagnosis of carpal tunnel syndrome is based on clinical findings supplemented by nerve conduction studies and ultrasonography. Prompt management via open release may improve function. Although the literature has demonstrated good outcomes in patients with mucopolysaccharidosis who undergo carpal tunnel release, results often are clinical and may not be confirmed via neurophysiologic studies.