Clinical and Laboratory Observations
Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency

https://doi.org/10.1067/mpd.2000.103853Get rights and content

Abstract

An adopted 3½-year-old girl with no prior medical problems died after a routine dental procedure. More than 2 years later, acylcarnitine analysis of dried blood found on her bedding revealed she had very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. Perioperative oral fasting, without intravenous administration of glucose, may be detrimental to children with certain metabolic and endocrine disorders. Newborn screening by tandem mass spectrometry will detect disorders of fatty acid oxidation such as VLCAD and allow early and preventive treatment. (J Pediatr 2000;136:397-9)

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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    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

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Reprint requests: Charles R. Roe, MD, Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm St, Dallas, TX 75226.

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