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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Fat Embolism | 7A0 Case 7 History - Copy
Case 7 History ---- This patient was an 11-year-old boy who was born at full-term. His developmental history was significant for delay in developmental milestones for walking (at 16 months) and language required speech therapy. He developed basal cell nevus syndrome (Gorlin Syndrome) with, medulloblastoma of the right cerebellum (S/P resection in December 2011) with craniospinal radiation to the posterior fossa that was completed in February 2012, and chemotherapy that was completed March 2013. He subsequently developed myelodysplastic syndrome (MDS) with excess blasts diagnosed on bone marrow biopsy performed due to pancytopenia. His course was complicated by graft versus host disease of the skin and gut and Posterior Reversible Encephalopathy Syndrome (PRES) associated with seizure secondary to BK virus viremia. The decedent also had chronic adenovirus, BK virus, and CMV viremia, and hemorrhagic cystitis secondary to BK virus causing hematuria. He has documented jaw cysts. He showed decreased growth trajectory over the 2 years prior to expiration with growth hormone deficiency (IGF-1 levels were very low). On 9/11/15, the decedent had a few episodes of emesis and loose, watery stools, thought secondary to brincidofovir side effect. On 9/12 he was found minimally responsive but not alert or oriented. EMS was called , and on admission he was tachycardic (HR 180's), febrile (38oC), and hypotensive (BP 82/43) with oxygen saturation of 94% on 15L non-rebreather mask. He opened his eyes to voice and was able to answer simple questions but appeared listless. Septic shock protocol was initiated, resuscitation with fluids was started, hydrocortisone and intravascular antibiotics (cefepime, meropenem, and vancomycin) were given. The decedent's labs were significant for leukopenia (WBC 1.3), normal hematocrit, and thrombocytopenia (platelets 17,000). A head CT showed no acute intracranial hemorrhage, new mass effect, or midline shift. On the day of admission, he was intubated and CPR was required for bradycardic arrest with return of spontaneous circulation after approximately 2 minutes. The same day, CPR was again required for hypotension. VA ECMO cannulation was initiated for poor perfusion pressures. Three pericardiocenteses were required for recurrent pericardial effusions. Plasmapheresis was initiated for treatment of shock. Additional complications include significant endotracheal tube hemorrhage, lactic acidosis (lactate of 10.3), acute renal failure (Cr rising to 2.9), and tense abdomen with absence of bowel sounds and abdominal x-ray showing some pneumatosis in the left lower quadrant. The decedent's PICU course over the next five days was complicated by liver damage (AST 7227, ALT 2137), anasarca, large bilateral pleural effusions (chest x-ray 9/14/15), poor left ventricular function (echocardiogram 9/13/15), and fluid overload requiring continuous venovenous hemodialysis (CVVH). The decedent's EEG reading was suggestive of generalized brain swelling. On 9/17/15, the decedent had completed 5 days of plasmapheresis and had been on VA ECMO for 6 days and continued to have hypotension refractory to volume resuscitation and vasopressors. He was coagulopathic with elevated PT (20.3) and PTT (59.5) with low antithrombin activity (31%) and normal fibrinogen level (265). Following a meeting between the family and the clinical care team, the decision was made to redirect his care and he died. ---- Basal cell nevus syndrome is an autosomal dominant disorder caused by mutations in the PTCH1 gene on chromosome 9q22, the PTCH2 gene on 1p32, or the SUFU gene on 10q24-q25. Patients with basal cell nevus syndrome characteristically have multiple jaw cysts, skeletal abnormalities, intracranial calcifications, and multiple basal cell carcinomas that often appear after puberty. Frontal bossing with macrocephaly, cardiac fibromas and cleft lip or palate are also associated with basal cell nevus syndrome. Medulloblastoma is a frequent complication, occurring in early childhood. ---- Neuroautopsy: The weight of the unfixed brain is 1540 g In the right cerebellum there was a central cystic cavity, without residual medulloblastoma.
