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Case Report
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| Compound heterozygous deletions presenting as infantile chylomicronemia | ||||||
| Susanna Felsenstein1, Geesje Dallinga-Thie2, Shankar Kanumakala3 | ||||||
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1Great Ormond Street Hospital, London, United Kingdom.
2Academisch Medisch Centrum Universiteit van Amsterdam. Department of Vascular Medicine, Amsterdam, Netherlands. 3Royal Alexandra Children's Hospital, Brighton, United Kingdom. | ||||||
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| How to cite this article |
| Felsenstein S, Dallinga-Thie G, Kanumakala S. Compound heterozygous deletions presenting as infantile chylomicronemia. Int J Case Rep Images 2015;6(11):712–716. |
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Abstract
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Introduction:
Monogenic disorders affecting the lipid metabolism are rare, but early diagnosis is important to ensure prompt initiation of management.
Case Report: A three-week old neonate presenting with rectal bleeding was found to have blood of an unusual cream-like appearance. Significant lipemia was confirmed, with massive increase in triglyceride and cholesterol levels. Centrifugation confirmed chylomicronemia. Primary chylomicronemia is extremely rare and most commonly caused by a lipoprotein lipase (LPL) gene mutation. The infant was a compound heterozygous for two deletions in the LPL gene: p. Thr45HisfsX3, and the here for the first time described p. Phe189X, both leading to a premature stop codon the absence of a mature protein. Subsequent change to medium chain triglyceride feed resulted in near-normal blood lipid levels. Conclusion: Novel mutations affecting chylomicron metabolism continue to be identified and may affect patients of ethnic background considered low-risk. This case illustrates that adequate treatment and dietary management is highly effective in symptomatic management, and in preventing serious complications in both infancy and later in life. | |
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Keywords:
Child, Chylomicronemia, Hyperlipidemia, Infant, Lipoprotein lipase gene mutation, Neonate, Ultracentrifugation
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Author Contributions
Susanna Felsenstein – Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for intellectually important content, Final approval of the version to be published Geesje Dallinga-Thie – Substantial contributions to analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published Shankar Kanumakala – Substantial contributions to analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published |
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Guarantor of submission
The corresponding author is the guarantor of submission. |
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Source of support
None |
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Conflict of interest
Authors declare no conflict of interest. |
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Copyright
© 2015 Susanna Felsenstein et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information. |
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