A177 CHYLOMICRON RETENTION DISEASE: A CASE OF INFANT PRESENTING WITH VOMITING AND FAILURE TO THRIVE WITHOUT DIARRHEA
Notice bibliographique
Résumé
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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Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,003 |
| Méta-épidémiologie (sens strict) | 0,002 | 0,001 |
| Méta-épidémiologie (sens large) | 0,001 | 0,001 |
| Bibliométrie | 0,003 | 0,001 |
| Études des sciences et des technologies | 0,002 | 0,001 |
| Communication savante | 0,001 | 0,002 |
| Science ouverte | 0,001 | 0,001 |
| Intégrité de la recherche | 0,005 | 0,003 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,002 | 0,001 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».