Chronic granulomatous disease involving the central nervous system.
Two male sibling infants died following a short course of lethargy and obtundation after a lifelong history of persistent, unrelenting diarrhea. Postmortem examination revealed extensive necrosis and early granuloma formation in the liver, spleen, lungs, and lymph nodes as well as in the central nervous system. To our knowledge, this fulminant clinical course, with documentation of granulomatous CNS lesions, has not been reported in patients with chronic granulomatous disease of childhood.
D001921:Brain / Q000473:pathology*; D006105:Granulomatous Disease, Chronic / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D008168:Lung / Q000473:pathology; D008297:Male; D013154:Spleen / Q000473:pathology