A special case of congenital adrenal hypoplasia and acute bilateral infantile striatal necrosis.
Isolated mineralocorticoid deficiency is described in a 5-week-old boy. The deficiency progressed to general adrenal insufficiency during the boy's first year of life. The family history suggested X-linked inheritance. At 18 months of age the patient developed acute bilateral infantile striatal necrosis, which might suggest a possible relationship between both entities.
D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics*; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003342:Corpus Striatum / Q000002:abnormalities* / Q000473:pathology; D003937:Diagnosis, Differential; D004292:Dominance, Cerebral / Q000502:physiology; D005500:Follow-Up Studies; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009336:Necrosis; D009460:Neurologic Examination; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D014960:X Chromosome