A 12 Year Old Boy With Suspected Charcot-Marie-Tooth: A Case Report

Abstract

Charcot-Marie-Tooth (CMT) is the most common hereditary neuropathy, with a prevalence of 1:2.500 in the Caucasian population. Clinical manifestations typically present during childhood or adolescence. A 12-year-old boy presented with difficulty walking. Alloanamnesis revealed that his growth and development had been appropriate for his age from birth until the age of 10 years. Over the past two years, he had developed gait abnormalities characterized by foot slapping while walking. Lower limb weakness had worsened seven days prior to hospitalization. The patient frequently fell, fatigued easily, and experienced pain in both legs. These symptoms were not preceded by fever or cough. Bowel and bladder functions were normal. He was born full-term, he had complete immunizations and no significant past medical history. His uncle had experienced similar symptoms. Physical examination revealed pes cavus and hammer toes. Neurological examination revealed lower limb muscle strength of 2/5, decreased patellar tendon reflexes, and negative pathological reflexes. Sensory function was difficult to evaluate. ENMG was not performed because the patient's parents refused referral. The patient showed clinical improvement following symptomatic pharmacological therapy and physical exercise therapy. The patient's clinical manifestations were consistent with typical features of CMT, including distal weakness, foot deformities, and loss of reflexes. Genetic testing, electrophysiological examination, and nerve biopsy could not be performed due to limited facilities. The clinician's role is crucial in establishing an initial diagnosis based on anamnesis and physical examination. Early detection may facilitate timely rehabilitation interventions to improve the patient's quality of life.