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Washington University Experience | NEOPLASMS (EMBRYONAL) | ATRT - Atypical Teratoid Rhabdoid Tumor | 9A0 Case 9 History
Case 9 History ---- The decedent was a 1 day old female who was diagnosed in utero with hydrocephalus by MRI at 30 weeks gestation (see 9A). Prenatal laboratory studies were unremarkable, including RPR, HIV, rubella and hepatitis B. The child’s mother was age 35, with a history of uterine fibroids. There were plans for shunt placement within the first days of life. She was delivered by caesarean section at 37 and 4/7 weeks and, although Apgar scores were 8 and 9 at 1 and 5 minutes, was not vigorous. At delivery, she had tense fontanelles and a massively enlarged head circumference. The infant was taken to the NICU, where she suddenly became apneic and was ventilated and ceased activity. An ultrasound showed massively dilated ventricles, but no intracranial hemorrhage. She was taken to the operating room and a ventriculo-peritoneal shunt was placed within 3 hours of delivery. At that time, she was found to have blood in the CSF and the CSF was under immense pressure. In addition, she had a high CSF WBC count, high CSF protein (537), and low CSF glucose (6) which was thought to be consistent with an in-utero hemorrhage. The fontanelle was much softer following shunt placement. ---- In the operating room, she was initially tachycardic but improved with infusion of crystalloid. On return to the NICU, systolic blood pressure was low and she was given additional fluids. At that time her hematocrit was low and she was given packed red cells. She was started on dopamine and then dobutamine was added as well as 2 infusions of sodium bicarbonate for metabolic acidosis. There was no blood pressure response to either volume or pressors, with progressive decrease in pressures. A cortisol level was elevated. At the time of death, she was hypotensive, refractory to volume and pressure support, with profound metabolic acidosis and was progressively bradycardic. She had developed hyperglycemia as high as 262, mild hyponatremia (132) and hyperkalemia (7.6). At that time, the endotracheal tube was removed and the infant was pronounced dead at 1 day of life. ---- Of note, a chromosomal microarray was performed by the Mayo reference laboratory on blood sampled on 3/30/16, just prior to the death of the patient. The results showed a deletion at the 22q11.23 locus, which includes the SMARCB1 gene. ---- The skull is diffusely thinned. A fracture measuring 3.2 cm in the anterior skull is reported and photographed but images are not compelling. The anterior fontanelle is 9.5 cm x 10.6 cm and the posterior fontanelle is 9.5 cm x 8.6 cm. The cranial sutures are widened to 1.1 cm. The cranial fossae and sella turcica are normally formed. The dura and leptomeninges are normal.
