Trastornos pulmonares por enfermedades sistémicas
esfingomielina. Se manifiesta en la edad infantil y adolescente. La radiografía de tórax muestra un patrón mixto intersticio-alveolar. El lavado broncoalveolar presenta depósito lipídico en macrófagos y el diagnóstico se obtiene por biopsia pulmonar, hepática u ósea. El tratamiento es sintomático, dirigido a corregir la insuficiencia respiratoria, la anemia y el dolor óseo.
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