A 5-month-old male presents with progressive weakness and poor head control over 2 months. Vital signs: HR 110, RR 22, SpO2 98% on room air. Examination reveals severe hypotonia, tongue fasciculations, and absent deep tendon reflexes. Cognition and eye movements remain intact. Serum creatine kinase is markedly elevated at 8,200 U/L. The infant has not received any medications. Which of the following is the most likely diagnosis?

  1. A)Spinal muscular atrophyGABARITO
  2. B)Botulism
  3. C)Duchenne muscular dystrophy
  4. D)Guillain Barré syndrome
  5. E)Myasthenia gravis

Explicação

Severe infantile hypotonia with tongue fasciculations and areflexia indicates spinal muscular atrophy, an anterior horn cell degeneration disorder. Cognition is preserved because the primary pathology is in lower motor neurons, not the cortex. Ver explicação completa e trilha adaptativa →

Fazer o diagnóstico grátis de USMLE