A 14-year-old boy presents with bilateral foot deformity. On examination thickened peripheral nerves and sensory gait ataxia is observed. On biopsy of the nerve, a typical onion bulb appearance is noted. The probable diagnosis is?
Image shows presence of Pes Cavus which indicates distal muscle weakness. Concomitant sensory deficit leads to Gait ataxia. Nerve biopsy: Classical onion bulb appearance s/o Charcot Marie Tooth disease. Charcot Marie Tooth disease ( Hereditary sensorimotor neuropathy) manifests as: Peroneal muscle dystrophy Stork leg appearance Thickened nerves N. biopsy: Onion bulb appearance Distal weakness ( Flexion contractures)
Friedreich ataxia
Ataxia telangiectasia
Charcot Marie Tooth disease
Leprosy
Channelopathies and Neuropathies