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- W3016909009 abstract "Question: A 4-year-old Indian boy born of third-degree consanguinity presented with clinical steatorrhea from early infancy, gaseous abdominal distension, anemia, and failure to thrive. Systemic examination was normal. Investigations revealed a hemoglobin of 61 g/L, total protein of 62 g/L, serum albumin of 43 g/L, serum cholesterol of 11 mg/dL, serum triglycerides of 4 mg/dL ,and undetectable levels of very low-density and low-density lipoproteins. Stool microscopy showed >100 fat globules/hpf. Predominant acanthocytosis (40%–50% of red blood cells) was present on peripheral smear (Figure A). Esophagogastroduodenoscopy showed an “unusually white” duodenal mucosa (Figure B–E). What is the diagnosis? How do we manage? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. Duodenal histology revealed preserved villous architecture with vacuolated enterocytes containing optically clear and foamy cytoplasm confirming the diagnosis of abetalipoproteinemia (Figure F, G). No change in histology was observed after 2 g/kg fat loading. His parents had a normal fasting lipid profile. Treatment consisted of hematinics, a low-fat diet with medium chain triglyceride supplementation, regular supplementation of fat-soluble vitamins including high-dose vitamin E (100 IU/kg/d). At 4 years of follow-up, the child demonstrated a significant improvement in growth and a decrease in steatorrhea and acanthocytosis (20%) with no visual or neuromuscular symptoms. Abetalipoproteinemia causes severe fat malabsorption owing to congenital absence of apolipoprotein B. High-dose vitamin E may have a protective effect over later onset neuromuscular disease and retinopathy.1Lee J. Hegele R.A. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.J Inherit Metab Dis. 2014; 37: 333-339Crossref PubMed Scopus (113) Google Scholar Consent was obtained from the patient’s parents to publish these images." @default.
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- W3016909009 date "2020-11-01" @default.
- W3016909009 modified "2023-10-17" @default.
- W3016909009 title "White-Out Duodenal Mucosa: Clue to a Systemic Diagnosis" @default.
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- W3016909009 doi "https://doi.org/10.1053/j.gastro.2020.03.079" @default.
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