A 15-year-old boy presents with progressive difficulty running and recurrent ankle sprains over the past year. Vital signs are normal (BP 118/76, HR 82, RR 16, Temp 98.6°F, SpO2 98%). Physical examination reveals pes cavus bilaterally, distal leg muscle wasting, and diminished vibration sensation in the feet. Strength testing shows 4/5 ankle dorsiflexion. Nerve conduction studies demonstrate slowed conduction velocities in lower extremities. There is no upper extremity involvement. Which diagnosis best explains these findings?
- A)Charcot-Marie-Tooth diseaseGABARITO
- B)Tabes dorsalis
- C)Polymyositis
- D)Guillain-Barré syndrome
- E)Friedreich ataxia
Explicação
Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy that commonly causes distal weakness, foot deformities such as pes cavus, and reduced distal sensation. Many cases are due to PMP22 duplication with segmental demyelination. Ver explicação completa e trilha adaptativa →