Bilateral hearing impairment as an early symptom in a patient with Charcot-Marie-Tooth Type 1: the first case report from Syria

Abstract

Introduction: Charcot-Marie-Tooth (CMT) is a group of inherited neuromuscular disorders that vary clinically and genetically. It is characterized by peripheral nerve damage, leading to muscle weakness and sensory loss. Case presentation: A 13-year-old male presented to the rheumatology department with bilateral hearing impairment since the age of 3 years, pes cavus, and difficulties walking. Some family members had Achilles tendon lengthening surgery. During physical examination, the patient had a shortened Achilles tendon, there are high arches in the feet, curled toes, loss of touch sensation in the feet, ankles, and legs, atrophy in the foot muscles. An eye examination revealed a discrepancy that needed glasses. Neurological findings included horizontal and vertical nystagmus, proprioception disorder, and demyelinating sensorimotor disorder diagnosed as CMT type 1. The audiogram showed bilateral sensorineural hearing impairment. MRI revealed spinal disc bulges. The treatment plan includes Achilles tendon lengthening surgery and physical therapy. Clinical discussion: CMT patients need to receive supportive treatment including physical therapy, hearing aids, and glasses, to help improve their quality of life. Conclusion: CMT disease is a genetic disorder that causes difficulties in movement, coordination, and daily activities due to muscle weakness and sensory impairments. In a few cases, patients have been documented to have bilateral hearing impairment as their first symptoms. It affects individuals in Syria and around the world, and requires proper diagnosis and treatment.