Abetalipoproteinemia: Report of Two Cases

Document Type : Case report

Authors

Abstract

Introduction: Abetalipoproteinemia is a rare disorder of lipoprotein metabolism, which causes low levels of cholesterol and absence or very low levels of LDL and VLDL. This rare autosomal recessive disorder is characterized by lipid malabsorption, spinocerebellar degeneration, acanthocytosis and retinopathy. In this study two cases of this disorder presented with severe malabsorption and abdominal distention, which mimicked celiac and fibrocystic diseases were reported.
 
 
 
 

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1- Shafer FE. Acanthocytosis. eMedicine Journal. 2002; 3:11pp. Available at:
http://www.emedicine.com/ped/topic2.htm. Accessed On: 2005.
2- Bassen FA, Kornzweig AL. Malformation of erythrocytes in cases of atypical retinitis pigmentosa. Blood 1950;
5: 381.
3- فرهمند، فاطمه. آبتالیپوپروتئینمی و گزارش یک مورد. مجله دانشگاه علوم پزشکی بابل، دوره دوم، شماره 6 (بهار 1379): ص 57 -59.
4- Martin MG, Wright EM. Congenital intestinal transport defects. In: Walker WA, Sherman PM, Goolet O, et al,
editors. Pediatric gastrointestinal disease. 4th ed. Hamilton: BC Decker; 2004. 898-921.
5- Wang J, Hegel RA. Microsomal triglyceride transfer protein (MTP) gene mutation in Canadian subjects with
abetalipoproteinemia. Human mutation 2000; 15: 294-5.
6- Hussain MM, Iqbal J, Anwar K, et al. Microsomal triglyceride transfer protein: a multifactorial protein. Front
Bioxci 2003; 1(8); s500-6.
7- Berriot-Varoqueax N, Aggerbeck LP, et al. The role of the microsomal triglyceride transfer protein in
abetalipoproteinemia. Annu Rev Nutr 2000; 20: 663-97.
8- Tershakovec AM, Rader DJ. Disorders of lipoprotein metabolism and transport. In: Behrman RE, Kliegman RM,
Jenson HB, editors. Nelson textbook of pediatrics. 17th ed. Philadelphia: Saunders; 2004. p 445-459.
9- Finch LA, Nowiciki Mg, Mitchell T, et al. Clinical quiz. Abetalipoproteinemia. J Pediat Gastroenterol Nu 2001 ;
32 (3) : 310-315.
10-Rajajee S, Sathysekaran M, Shanker J, et al. Importance of screening the peripheral smear. Indian J Pediatr 2002;
69 (9): 821-2.
11-Wong P. A basis of the acanthocytosis in inherited and acquired disorders. Med Hypotheses 2004; 62 (6): 966-9.
12-Narchi H, Amr SS, Mathew PM, et al. Rickets as unusual initial presentation of abetalipoptoteinemia and
hypobetalipoproteinemia. J Pediatr Endocrinol Metab 2001; 14 (3): 329-33.
13-Odez RD, Goldman J. Systemic and miscellaneous disorders. In: Ming S, Goldman H, editors. Pathology of the
gastrointestinal tract. 2nd ed. Baltimore: Williams and Wilkins; 1998. 399-429.
14-Granot E, Kohen R. Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin
A supplementation. Am J Clin Nutr 2004; 79 (2): 226-30
15-Triantafillidis JK, Rottaras G, Sgourous S, et al. A-betal-lipoproteinemia: clinical and laboratory features,
therapeutic manipulations, and follow-up study of three members of a Greek family. J Clin Gastroenterol 1998; 26
(3): 207-11.