A 15-year-old boy presents with recurrent ankle sprains and progressive difficulty running. Vital signs are normal (BP 118/76, HR 82, RR 16, Temp 37°C, SpO2 98%). Physical examination reveals pes cavus deformity, distal lower extremity weakness, and decreased vibration sensation in both feet with absent ankle reflexes. Nerve conduction studies show slowed conduction velocities in lower extremities. His father reports identical symptoms. Which of the following is the most likely diagnosis?
- A)Myasthenia gravis
- B)Amyotrophic lateral sclerosis
- C)Charcot Marie Tooth diseaseGABARITO
- D)Spinal muscular atrophy
- E)Guillain Barré syndrome
Explicação
Inherited distal weakness, sensory loss, pes cavus, and reduced reflexes are classic for Charcot Marie Tooth disease. The most common form involves PMP22 duplication causing a demyelinating hereditary motor and sensory neuropathy. Ver explicação completa e trilha adaptativa →