Evidence map›Paper›PMID 41778478›Full record

ArticleAnnals of African medicine2026

Familial Hyperchylomicronemia Syndrome in a Term Neonate.

Sudesh Kumar, Avinash Priyadarshi, Soumya Sanjay

Abstract readCase Reports
In one paragraph

Article in Annals of African medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Sudesh KumarDepartment of Pediatrics, MGM Medical College and LSK Hospital, Kishanganj, Bihar, India.
Avinash PriyadarshiDepartment of Pathology, MGM Medical College and LSK Hospital, Kishanganj, Bihar, India.
Soumya SanjayDepartment of Pediatrics, MGM Medical College and LSK Hospital, Kishanganj, Bihar, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

abstractFamilial hyperchylomicronemia syndrome, which is also known as type 1 hyperlipoproteinemia, is a very rare autosomal recessive disorder of lipoprotein metabolism which affects approximately one per million individuals. Familial hyperchylomicronemia is characterized by severe hypertriglyceridemia,with triglyceride level>880 mg/L. This is result of excessive accumulation of chylomicron and inherited defect in hydrolysis of circulating triglyceride. A 24-day-old male admitted to the neonatal intensive care unit with complaints of excessive crying with refusal to feed. During routine blood sampling, blood was found viscous and turned milky white after few seconds. So we diagnosed as a case of familial hyperchylomicronemia with late onset sepsis ,on the basis of high index of suspicion, high plasma triglyceride level, with second degree of early cardiac disease in family which was further genetically confirmed by whole exome sequencing, showing homozygous lipoprotein lipase gene mutation.

Indexed as

Hyperlipoproteinemia Type ITriglyceridesHumansInfant, NewbornLipoprotein LipaseMaleSepsisLipoprotein LipaseLPL protein, humanTriglyceridesChylomicronfamilial hyperchylomicronemiahydrolysehydrolysishyperchylomicronémie familialehyperlipoprotéinémie de type 1triglyceridetriglycéridetype 1 hyperlipoproteinemia

Identifiers

PMID41778478
PMCPMC13541328

What Socratic holds

Textmetadata
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.