A177 CHYLOMICRON RETENTION DISEASE: A CASE OF INFANT PRESENTING WITH VOMITING AND FAILURE TO THRIVE WITHOUT DIARRHEA
Bibliographic record
Abstract
Chylomicron retention disease (Anderson’s disease) is a rare autosomal recessive disorder due to mutation of SAR1B gene causing accumulation of lipoproteins in enterocytes and hypocholesterolemia. This leads to malabsorption and deficiencies of fat soluble vitamins with serious clinical sequelae. Patients most commonly present in infancy with nonspecific symptoms such as vomiting, diarrhea and failure to thrive. Diarrhea is reported to be universally present in all cases. We report an infant with chylomicron retention disease presenting without diarrhea. A 5-month-old term male of French Canadian descent was referred from community hospital with vomiting and severe failure to thrive. By 2 months of age, he had grown to only 4.8kg and then length and head circumference plateaued. He was exclusively breastfed for first 3 months and transitioned to formula due to poor growth. The spitting starting in first few weeks of life progressed to frequent non-bilious vomiting. There was no diarrhea. An upper GI series showed minimal reflux. A barium enema done for Hirschsprung’s disease was negative. Sweat test was normal. Treatment with PEG3350 for presumed constipation and lansoprazole had been started along with formula NG feeds. Upon transfer to Paediatric unit, the infant was emaciated with distended abdomen and poor muscle strength. Investigations revealed normal urine, blood gas, electrolytes, glucose, renal function, bilirubin, ammonia, and organic acids. Serum albumin was low and transaminases mildly elevated. Stool microscopy showed fat globules. Upper GI endoscopy showed milky white appearance of duodenal mucosa. Biopsies showed normal villous height and architecture with significant steatosis of the enterocytes. Electron microscopy confirmed large amount of lipid droplets in the cytoplasm of enterocytes. Further workup revealed markedly reduced LDL-cholesterol, borderline low HDL-cholesterol and normal triglycerides. Vitamin A, D and E levels were decreased. Genetic testing revealed two different heterozygous variants in SAR1B gene; c.537T>A and c.409G>A. Parents were both carriers of the variants in SAR1B, confirming that each variant was on a separate copy of the SAR1B gene. The infant was started on a partially hydrolyzed formula with higher medium chain triglyceride content orally and by NG tube. Supplementation with vitamin A, D, E and K was initiated. In follow-up at 10 months of age, he was doing very well, thriving with normal fat soluble vitamin levels. Chylomicron retention disease can present without diarrhea. A high index of suspicion for a disorder of hypocholesterolemia and early endoscopy is recommended in infants with persistent vomiting and failure to thrive. A timely diagnosis and treatment is essential to avoid serious clinical sequelae, especially neurological impairment. None
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.005 | 0.003 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".