ABSTRACT
BACKGROUND: Organic acidemias are rare genetic mutations, most commonly identified in the newborn period. Late-onset presentations present a diagnostic conundrum. Early identification and appropriate management can be lifesaving. CASE REPORT: We describe the case of a 3-year-old boy who presented to urgent care with 2 days of nausea, vomiting, and diarrhea followed by respiratory distress, shock, and encephalopathy. Brisk recognition of his shock state led to an urgent transfer to a tertiary care pediatric emergency department by air where his shock was treated and hyperammonemia was uncovered, leading to the diagnosis of late-onset propionic acidemia, which was subsequently managed with a good outcome. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Late-onset presentations of inborn errors of metabolism, including organic acidemias, represent one of the most challenging pediatric cases an emergency physician can encounter. This case reviews the management and diagnosis of a late-onset inborn error of metabolism and emphasizes how prompt diagnosis and treatment can lead to a favorable outcome.
Subject(s)
Amino Acid Metabolism, Inborn Errors , Hyperammonemia , Propionic Acidemia , Infant, Newborn , Male , Child , Humans , Child, Preschool , Propionic Acidemia/diagnosis , Propionic Acidemia/therapy , Dehydration/diagnosis , Dehydration/etiology , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/therapy , Vomiting/etiology , Emergency Service, HospitalABSTRACT
OBJECTIVE: The COVID-19 pandemic resulted in millions of deaths worldwide and is considered a significant mass-casualty disaster (MCD). The surge of patients and scarcity of resources negatively impacted hospitals, patients and medical practice. We hypothesized ICUs during this MCD had a higher acuity of illness, and subsequently had increased lengths of stay (LOS), complication rates, death rates and costs of care. The purpose of this study was to investigate those outcomes. METHODS: This was a multicenter, retrospective study that compared intensive care admissions in 2020 to those in 2019 to evaluate patient outcomes and cost of care. Data were obtained from the Vizient Clinical Data Base/Resource Manager (Vizient Inc., Irvine, Texas, USA). RESULTS: Data included the number of ICU admissions, patient outcomes, case mix index and summary of cost reports. Quality outcomes were also collected, and a total of 1304981 patients from 333 hospitals were included. For all medical centers, there was a significant increase in LOS index, ICU LOS, complication rate, case mix index, total cost, and direct cost index. CONCLUSION: The MCD caused by COVID-19 was associated with increased adverse outcomes and cost-of-care for ICU patients.
