Clinical and Laboratory ObservationsDeath caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency☆
Section snippets
CASE REPORT
A white female infant was born to a 21-year-old woman (gravida 3) after a 42-week uneventful pregnancy. Her birth weight was 3.71 kg. She was relinquished to foster care and adopted at 6 months of age. At that time, she was considered developmentally normal although somewhat hypotonic. During her first 18 months, she experienced minor illnesses such as otitis media and 2 bouts of gastroenteritis without hospitalization. She also tolerated overnight fasting intervals of about 13 hours without
RESULTS
Two and a half years later, the adoptive family requested further assistance in determining the cause of death in this child. Frozen tissues or body fluids from the autopsy were not available. The only material available for analysis was the child’s quilt, which had an area (~8 cm in diameter) saturated with dried blood from the dental extraction. A portion of this quilt, which contained areas with and without dried blood, was submitted for solvent extraction and acylcarnitine analysis. The
DISCUSSION
This child’s fate emphasizes the serious risks for apparently “normal” children with unrecognized mitochondrial fat oxidation disorders undergoing routine operative procedures. The combination of preoperative and postoperative fasting along with sedation produced an irreversible situation, which promoted lipolysis in this child with resultant profound hypoglycemia, coma, cerebral edema, and death. A recent review3 of 30 children with VLCAD deficiency clearly demonstrates that there are 2
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Cited by (25)
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency
2021, Molecular Genetics and Metabolism ReportsCitation Excerpt :During the operation, we performed strict monitoring of the biological markers of VLCADD at the preclinical stage. In the past, when NBS for VLCADD did not exist, postoperative death of a patient with undiagnosed VLCADD was reported [15]. Subsequently, VLCADD has been commonly diagnosed during the pre-symptomatic stage through NBS, making it possible to closely monitor these patients during surgical procedures.
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach
2020, Molecular Genetics and MetabolismCitation Excerpt :In Delphi 2, consensus was not reached (75% of RDs and 60% of MDs) that a CMP should be used for routine monitoring. Hypoglycemia is a reported complication during metabolic episodes with or without cardiac complications [4,7,13,39,51,58,85,86,89–91]. However, hypoglycemia was not reported in case studies of patients with VLCAD with late-onset rhabdomyolysis [30,34,37,40,59,62,63,92–96], and even in a child [84] and a neonate [60] presenting with rhabdomyolysis.
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency
2003, Journal of PediatricsCitation Excerpt :This conclusion is also strongly supported by previous reports of disease manifestations in VLCADD. A previously completely well child with unrecognized VLCADD died at the age of 5 years after perioperative fasting and sedation.21 Other asymptomatic FAO disorders frequently become manifest as sudden and unexpected death.22–24
Inherited disorders of mitochondrial fatty acid oxidation: A new responsibility for the neonatologist
2002, Seminars in NeonatologyClinical applications of tandem mass spectrometry: Ten years of diagnosis and screening for inherited metabolic diseases
2001, Journal of Chromatography B: Biomedical Sciences and Applications
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Reprint requests: Charles R. Roe, MD, Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm St, Dallas, TX 75226.