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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Empty sella syndrome | 1A0 Case 1 History
Case 1 History ---- The decedent is a 6-year-old girl with history of homozygous DPH1 mutation, severe developmental delay, congenital brain malformation (including decreased sized frontal lobes with rudimentary sylvian fissures, thinned corpus callosum, and empty sella turcica), chronic lung disease, and recurrent aspiration pneumonia. She was found to have human metapneumovirus and group A tracheitis/pneumonia at the outside hospital, and she received intermittent vancomycin, and ceftriaxone- cefotaxime-cefepime throughout her hospitalization. She had long courses of systemic prednisolone throughout her hospitalizations.
Growth parameters were small for age, including microcephaly (880 g vs nl 1213-1311g). In the setting of her chronic hypoxic /hypercarbic respiratory failure that was not improving despite optimal therapy, the decedent’s parents decided to transition her to comfort care. She died from respiratory insufficiency secondary to chronic interstitial lung disease with superimposed diffuse acute bronchopneumonia, with a history of developmental and growth delay as a contributory cause of death.
