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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Adrenoleukodystrophy (ALD, AMN) | 4A0 Case 4 History
Case 4 History ---- The patient was an 8-year-old male with a history of adrenoleukodystrophy, who was status post bone marrow transplant with immunosuppression in December of 2004. His post-transplant course was complicated by severe graft-versus-host disease mainly in gut and skin, persistent infection with HHV-6, and prior infection with adenovirus. He was discharged home briefly after a long hospitalization and was then readmitted in June when he presented with fever and diarrhea. Over this hospitalization, rehabilitation was initiated but the physicians’ team had poor cooperation due to escalating patient anxiety. A gastrostomy tube was placed for nourishment and administration of drugs. The tube was placed by interventional radiology and upon his return from the procedure, he was soon noted to be gray and hypotensive, as well as bradycardic with poor respiratory effort. Resuscitation was attempted for approximately two hours and included cardiopulmonary resuscitation, mechanical ventilation, defibrillation, and multiple blood products. Unfortunately, despite best efforts, stable heart rate and adequate blood pressure were not established. After discussion with the parents, it was agreed that further resuscitation efforts were futile and support was withdrawn. ---- Necropsy Findings: ---- The major finding in the neuro autopsy was the evidence of profound demyelination of the white matter involving predominantly the parietal-occipital lobes. The demyelinating process appeared still active and ongoing particularly in the periphery of the lesions as evidenced by the lipid/myelin material noted on the special stains. ---- This child was subjected to molecular studies and was found to have a mutation in the gene ABCD1. Additional history later obtained also suggests other siblings effected with this disease. With the given genetics features, adrenal and testicular atrophy and the histomorphologic changes noted in the cerebral white matter, these findings are diagnostic of adrenoleukodystrophy
