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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Alexander Disease | 3A0 Case 3 History)
Case 3 History ---- The patient was an 18 year old man at the time of death. The diagnosis of Alexander disease was established clinically around 6 months of age, and subsequently confirmed by genetic testing, which identified a mutation in GFAP encoding an R79C amino acid change. His medical issues included epilepsy, developmental regression, and a "cerebral palsy" phenotype characterized by spastic quadriplegia. Bulbar dysfunction was noted approximately 3 years prior to death, and included an inability to cough. Other medical issues included hypothyroidism and chronic constipation. The patient was in his usual state of health (able to minimally move his left upper extremity, but unable to speak, ambulate, bear weight, or stand upright) until 7/9/2014, when he was admitted to an outside hospital for acute lower abdominal pain, mild fever and distention. He was initially treated with ceftriaxone for a presumed urinary tract infection. After a chest X-ray showed left lower lobe consolidation, he was treated with azithromycin for pneumonia. Five days later his abdominal distention acutely worsened and he began to experience shortness of breath requiring oxygen supplementation and BiPAP machine assistance. CT showed left lower lobe consolidation and urinary distention with mild hydronephrosis bilaterally. The patient was intubated, transferred to Pediatric Intensive Care Unit, and placed on vancomycin and piperacillin-tazobactam. Because of concern for patient’s quality of life, a decision was made by parents not to re-intubate the patient if he failed a trial of extubation, after which he expired with a clinical diagnosis of cardiorespiratory failure secondary to Alexander disease.
