Abstract
Here we report a newborn with VLCAD deficiency with a severe neonatal onset type who presented with hypoglycemia, cardiomyopathy, mild hepatomegaly and slight hypoalbuminemia. The patient was also homozygous for a new missense mutation (R456H). Postmortem examination of the liver, heart and skeletal muscle revealed diffuse lipid accumulation in various amounts. Mild lobular and portal fibrosis as well as severe macrovesicular steatosis were also found in the liver. The fatal course of the patient may have resulted from diffuse lipid accumulation in the liver and myocardium, which probably began during the intrauterine life with slight hypoalbuminemia as a silent marker of this process.
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Abbreviations
- VLCAD:
-
very-long-chain acyl coenzyme A dehydrogenase
- HPLC:
-
high performance liquid chromatography
- NICU:
-
neonatal intensive care unit
- USG:
-
ultrasonography
- PAS:
-
periodic acid schiff
- ATP:
-
adenosine triphosphate
- CK:
-
creatine kinase
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Acknowledgement
We would like to thank Mehmet Kesimer, PhD, from the Metabolism and Nutrition Unit, Department of Pediatrics, Hacettepe University School of Medicine, for expert help in Tandem MS studies.
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The case was presented as a poster in the 42nd Annual Symposium of the SSIEM, held on September 2005 in France.
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Aliefendioğlu, D., Dursun, A., Coşkun, T. et al. A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings. Eur J Pediatr 166, 1077–1080 (2007). https://doi.org/10.1007/s00431-006-0350-6
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DOI: https://doi.org/10.1007/s00431-006-0350-6