Carpal Tunnel Syndrome in the Setting of Mucopolysaccharidosis II (Hunter Syndrome)

BACKGROUND: Carpal tunnel syndrome (CTS) is a rare finding in children, but heavily represented in pediatric patients with mucopolysaccharidoses. Diagnosis is a challenge due to lack of the stereotypical symptomatic complaints and relies on examination and objective nerve conduction studies. METHODS: We present a case of delayed presentation of CTS in a 12-year-old boy with Hunter syndrome, followed by a review of the literature. RESULTS: Patient Z.D. presented with minimal reported CTS symptoms but advanced median nerve damage on electromyography. He underwent bilateral carpal tunnel release with median nerve neurolysis and flexor tenosynovectomies. Intraoperative examination demonstrated the presence of a “waist sign” of the median nerve and moderate flexor tenosynovial hypertrophy bilaterally. Parents reported mild subjective improvement of dexterity and fine motor skills postoperatively. CONCLUSION: To optimize functional outcome, routine screening for CTS and intervention at an early age are emphasized in the mucopolysaccharidoses population.