Delayed Diagnosis of a Charcot–Marie–Tooth Disease Type 1–Like Demyelinating Neuropathy in Somalia: A Case Report and Review of Clinical Indicators in Resource‐Limited Settings

Charcot–Marie–Tooth (CMT) disease is the most common inherited peripheral neuropathy, but it is rarely reported from the Horn of Africa, and genetic testing is not available in Somalia. We describe a 53‐year‐old Somali man, born to consanguineous parents, with a 43‐year history of slowly progressive distal limb weakness and gait impairment that began at about 10 years of age and had never been medically evaluated; his family attributed his stepping gait to trauma and mountain climbing. His siblings were examined and were unaffected, and his parents were deceased. Examination showed bilateral pes cavus with hammer and clawed toes, marked distal lower‐limb wasting with an inverted champagne‐bottle appearance (more severe on the right), foot drop, distal loss of vibration and proprioception and generalised areflexia, without nerve thickening, tremor, hearing loss or visual loss. Median and ulnar motor conduction velocities were 20‐21 m/s, with prolonged distal and F‐wave latencies, reduced amplitudes and absent lower‐limb motor and sural responses, indicating a demyelinating‐predominant sensorimotor polyneuropathy with secondary axonal loss. Glycated haemoglobin, vitamin B12, thyroid‐stimulating hormone and HIV testing did not identify a common acquired cause. Because genetic testing was unavailable, we diagnosed a probable hereditary demyelinating neuropathy with a CMT Type 1–like phenotype; a recessive form or a de novo variant cannot be excluded. He received ankle–foot orthoses, physiotherapy and counselling, but benefited little, and his function later declined. Childhood‐onset distal wasting with foot deformity, areflexia and uniformly slow conduction velocities should prompt suspicion of CMT even when the family history is negative and genetic testing is unavailable.