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?
Friedreich ataxia
Ataxia telangiectasia
Charcot Marie Tooth disease
Leprosy
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)
Channelopathies and Neuropathies