An ۱۱-year-old boy with chronic skin ulcers leading to the diagnosis of Charcot-Marie-Tooth disease: A case report

Introduction: Charcot- Marie- Tooth disease was first described in ۱۸۸۶. The main features of this disorder are usually the onset of childhood, familial onset, progressivemuscle weakness, and muscle atrophy that affect the legs. Later, the hands may also be affected, so additional clinical features may include decreased tendon deep reflexes and partial to moderate distal sensory impairment. Approximately two-thirds of cases of CMTD are familial, with inheritance usually predominant. The diagnosis is based onhistory and clinical examination, then EMG-NCV testing and, if possible, genetic testing. In this study, we present an ۱۱-year-old boy with chronic cutaneous wounds that led to the diagnosis of Charcot-Marie-Tooth disease. Methods: The present study is a case report. Result: An ۱۱-year-old boy came to our hospital complaining of deep ulcers in the legs and feet. Initially, the patient has severe itching in the wounded areas, resulting in deep and numerous ulcers following the itching. The patient's symptoms started at age ۳ and were initially in the groin and other flexor areas of the lower extremity. At the patient's neurologic examination, the ۱۲ brain nerves were normal, but the patient had symmetrical proximal muscle weakness of ۳/۵ in four extremities. On the other hand, the DTR of the lower and upper extremities was symmetric and +۱. Examination of the lower limbs in both legs was evident in pes cavous and gate was abnormal. The only abnormal sensory finding in the patient was unbearable skin pruritus. Multiple deep wounds were evident in the areas of the soles of the feet and tendons, which had a tenderness in the deep palpation. There were no pathological findings in the patient's initial tests (CBC, blood glucose, serum electrolytes, liver function, kidney function, thyroid function, inflammatory factors (ESR and CRP) and metabolic tests). The patient as then asked for EMG-NCV four-limb test. EMG-NCV results showed peripheral neuropathy of axonal dysfunction suggested Charcot-Marie-Tooth type ۲ disease.Conclusion: In the present study, the patient was diagnosed with CMTD. According to the present study and the findings of previous studies, it is recommended that patientswith refractory ulcers (whether in children or in adults), CMTD be included in differential diagnosis.