A Case Report of Congenital Carpal Tunnel Syndrome

OBJECTIVE: To evaluate a child who presented bilateral hypoplasia of the thenar eminences and clumsy hands without sensory loss or nocturnal pain. METHOD: A careful history taking, physical examination, plain X-ray and electrophysiologic examination. RESULT: No familial history nor a systemic etiology were identified in this patient. Physical examination revealed a marked flattening of both thenar eminences and weakness of the abductor pollicis brevis and opponens pollicis of both hands. There was no sensory loss nor neurologic abnormality. X-rays of the hands showed thin both proximal end of the first metacarpals. The electrophysiologic examination showed electreical silence of both thenar eminences. History taking, physical examination, X-ray findings and electrophysiologic findings were all compatible with the Cavanagh syndrome. CONCLUSION: A careful history taking, physical examination and electrophysiologic examination are improtant for the diagnosis of congenital carpal tunnel syndrome.

Congenital Insensitivity to Pain with Anhidrosis: Follow-up of 1 case

Congenital insensitivity to pain with anhidrosis (CIPA: a hereditary sensory and autonomic neuropathy, HSAN IV) is a rare disease characterized by the self-mutilation, bone fracture, multiple scars, osteomyelitis, joint deformities and anhidrosis. The pathophysiologic mechanism remains unknown. This is the report of a twelve years old boy who had been diagnosed as the CIPA at his age of five. Loss of unmyelinated and small myelinated nerve fibers have been noted in an abdominal skin biopsy. On follow up studies, no significant changes were noted in the clinical manifestations and in the findings of laboratory, radiologic and electrophysiologic studies when compared to the initial studies except for the minimally progressed neuropathic ankle joints. Long term follow up study including the sequential electrophysiologic examination and biopsy of nerve and muscle might be necessary to establish the natural course of the disease. Prevention of the injury should be emphasized for the good prognosis.