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Chylomicron retention disease
Digestive and Liver Disease 45 (2013) e3
Contents lists available at SciVerse ScienceDirect
Digestive and Liver Disease journal homepage: www.elsevier.com/locate/dld
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Chylomicron retention disease Cécile Desaldeleer a , Sebastien Henno b , Bertrand Bruneau c , Alain Dabadie a,∗ a
CHU Rennes, Department of Pediatrics, South Hospital, Rennes cedex, France CHU Rennes, Department of Anatomopathology, Pontchaillou Hospital, Rennes cedex, France c CHU Rennes, Department of Pediatric Medical Imaging, South Hospital, Rennes cedex, France b
a r t i c l e
i n f o
Article history: Received 14 June 2012 Accepted 4 August 2012 Available online 5 September 2012
Fig. 1.
Fig. 2.
An 8-month-old boy born of a consanguine union presented with feeding disorders, vomiting, diarrhoea and failure to thrive. Laboratory tests showed vitamin E deficiency (2.5 mol/l), elevated alanine aminotransferase (8 times upper normal limit), negative anti-transglutaminase antibodies, normal faecal elastase. Total serum and HDL cholesterol were reduced (1.41 mmol/l and 0.5 mmol/l), apolipoprotein B and A1 were low (0.24 g/l and 0.57 g/l), triglycerides were normal. Abdominal ultrasonography revealed small bowel parietal thickening, and oesophago-gastroduodenoscopy showed a whitish aspect of duodenal mucosa (Fig. 1) which was biopsied: at light microscopy enterocytes presented fat-laden vacuolisation without villous atrophy (Fig. 2, HES 200×). Genotyping identified homozygous SAR1B gene mutation c.409 GAC > AAC suggesting chylomicron retention disease (CRD).
CRD is a rare autosomal recessive disease due to mutation of SAR1B gene encoding the Sar1b protein involved in chylomicron transport from the endoplasmic reticulum to the Golgi apparatus. Clinical presentation includes failure to thrive, diarrhoea and fat malabsorption resulting in decreased total cholesterol and normal triglycerides. SAR1B mutation induces an accumulation of prechylomicron transport vesicles in enterocyte cytoplasm, as seen on intestinal biopsies. Treatment consists in low fat diet, fat-soluble vitamins and long-chain polyunsaturated fatty acids parenteral supplementation. Good compliance allows normal growth and prevents hepatic, ophthalmologic and neurological complications [1].
∗ Corresponding author at: CHU Rennes, Department of Pediatrics, South Hospital, 16 boulevard de Bulgarie, BP 90347, 35203 Rennes cedex, France. Tel.: +33 2 99 26 67 33; fax: +33 2 99 26 71 95. E-mail address: [email protected] (A. Dabadie).
Reference [1] Peretti N, Sassolas A, Roy C, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet Journal of Rare Diseases 2010;5:24, http://www.ojrd.com/content/5/1/24.
1590-8658/$36.00 © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.dld.2012.08.003
Contents lists available at SciVerse ScienceDirect
Digestive and Liver Disease journal homepage: www.elsevier.com/locate/dld
Image of the Month
Chylomicron retention disease Cécile Desaldeleer a , Sebastien Henno b , Bertrand Bruneau c , Alain Dabadie a,∗ a
CHU Rennes, Department of Pediatrics, South Hospital, Rennes cedex, France CHU Rennes, Department of Anatomopathology, Pontchaillou Hospital, Rennes cedex, France c CHU Rennes, Department of Pediatric Medical Imaging, South Hospital, Rennes cedex, France b
a r t i c l e
i n f o
Article history: Received 14 June 2012 Accepted 4 August 2012 Available online 5 September 2012
Fig. 1.
Fig. 2.
An 8-month-old boy born of a consanguine union presented with feeding disorders, vomiting, diarrhoea and failure to thrive. Laboratory tests showed vitamin E deficiency (2.5 mol/l), elevated alanine aminotransferase (8 times upper normal limit), negative anti-transglutaminase antibodies, normal faecal elastase. Total serum and HDL cholesterol were reduced (1.41 mmol/l and 0.5 mmol/l), apolipoprotein B and A1 were low (0.24 g/l and 0.57 g/l), triglycerides were normal. Abdominal ultrasonography revealed small bowel parietal thickening, and oesophago-gastroduodenoscopy showed a whitish aspect of duodenal mucosa (Fig. 1) which was biopsied: at light microscopy enterocytes presented fat-laden vacuolisation without villous atrophy (Fig. 2, HES 200×). Genotyping identified homozygous SAR1B gene mutation c.409 GAC > AAC suggesting chylomicron retention disease (CRD).
CRD is a rare autosomal recessive disease due to mutation of SAR1B gene encoding the Sar1b protein involved in chylomicron transport from the endoplasmic reticulum to the Golgi apparatus. Clinical presentation includes failure to thrive, diarrhoea and fat malabsorption resulting in decreased total cholesterol and normal triglycerides. SAR1B mutation induces an accumulation of prechylomicron transport vesicles in enterocyte cytoplasm, as seen on intestinal biopsies. Treatment consists in low fat diet, fat-soluble vitamins and long-chain polyunsaturated fatty acids parenteral supplementation. Good compliance allows normal growth and prevents hepatic, ophthalmologic and neurological complications [1].
∗ Corresponding author at: CHU Rennes, Department of Pediatrics, South Hospital, 16 boulevard de Bulgarie, BP 90347, 35203 Rennes cedex, France. Tel.: +33 2 99 26 67 33; fax: +33 2 99 26 71 95. E-mail address: [email protected] (A. Dabadie).
Reference [1] Peretti N, Sassolas A, Roy C, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet Journal of Rare Diseases 2010;5:24, http://www.ojrd.com/content/5/1/24.
1590-8658/$36.00 © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.dld.2012.08.003