An 8-year-old boy presents with declining school performance, progressive spasticity, and hyperpigmentation over 6 months. He experiences recurrent vomiting and exhibits adducted thumbs. Vital signs: BP 92/58 mmHg, HR 102 bpm, RR 18/min, temp 37.2°C. Laboratory studies reveal primary adrenal insufficiency with cortisol 3 mcg/dL. Plasma very long chain fatty acids are markedly elevated. Brain MRI shows cerebral white matter involvement. No hepatosplenomegaly is noted. Which of the following is the most likely diagnosis?
- A)Krabbe disease
- B)Metachromatic leukodystrophy
- C)X linked adrenoleukodystrophyGABARITO
- D)Multiple sclerosis
- E)Spinal muscular atrophy
Explicação
A boy with adrenal insufficiency and progressive CNS demyelination due to elevated very long chain fatty acids has X linked adrenoleukodystrophy. The underlying defect is a peroxisomal membrane transporter mutation causing impaired VLCFA degradation. Ver explicação completa e trilha adaptativa →