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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Holoprosencephaly | Semilobar HPE | 13A0 Case 13 History
Case 13 History ---- The decedent was a 3-year-old male born full term to a 31-year-old G6P2042 mother, with prenatal diagnoses of alobar holoprosencephaly (HPE), anterior frontoethmoidal encephalocele, hydrocephalus status post VA shunt with multiple revisions, epilepsy, panhypopituitarism, chronic respiratory failure requiring nocturnal bilevel positive airway pressure (BiPAP), and gastrostomy tube dependence. Prenatal genetic evaluation, including karyotype, chromosomal microarray (CMA), and a holoprosencephaly panel, was negative (GenomeSeqDx), per chart. One morning in July 2026, his mother found him appearing unwell and not breathing and called EMS. He was found in cardiac arrest, and resuscitation was initiated. EMS administered multiple rounds of epinephrine, with no shockable rhythm identified. He arrived at the emergency department in asystole with an i-gel airway in place and ongoing chest compressions. Resuscitative efforts continued in the emergency department, with total resuscitation time exceeding 60 minutes. Return of spontaneous circulation was not achieved, and death was pronounced. The patient's mother requested an autopsy to further evaluate the cause of death.
