Case Reports

Abetalipoproteinaemia arising from a new variant of microsomal triglyceride transfer protein in a child presenting with chronic fat malabsorption

CB Eke, AD Marais, RJ De Lacy, AJ Hooper, BD Ratanjee, EA Goddard

Abstract


This case report describes a patient who failed to thrive and lagged in development in the first year of her life and did not grow as expected. Though a history of diarrhoea was present, stool analysis was not conclusive for malabsorption of fat. Fat malabsorption may be due to various disorders of exocrine function of the pancreas as well as problems in the intestine. Abetalipoproteinaemia is a rare inherited condition in which neither the intestine nor the liver can secrete lipoproteins. This diagnosis was made on lipoprotein investigation by demonstrating the absence of lipoproteins containing apolipoprotein B (apoB). Lipoprotein investigation is generally normal in the parents of the recessively inherited condition of microsomal triglyceride transfer protein (MTTP) deficiency but in homozygous hypobetalipoproteinaemia owing to mutations in apoB that also impair lipoprotein assembly, the parents have low cholesterol concentrations. Patients with abetalipoproteinaemia improve markedly on dietary fat restriction but may benefit from medium-chain triglycerides as part of supplying their energy needs and, importantly, require high doses of vitamin E as well as other fat-soluble vitamins, to avoid neuromuscular degeneration and retinitis pigmentosa.


Authors' affiliations

CB Eke, Division of Gastroenterology, Department of Paediatrics and Child Health, Red Cross War Memorial Children’s Hospital and University of Cape Town, South Africa; and Department of Paediatrics, College of Medicine, University of Nigeria, Enugu, Nigeria

AD Marais, Division of Chemical Pathology, Department of Pathology, University of Cape Town, South Africa

RJ De Lacy, Division of Gastroenterology, Department of Paediatrics and Child Health, Red Cross War Memorial Children’s Hospital and University of Cape Town, South Africa

AJ Hooper, Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Fiona Stanley Hospital Network, Perth, Australia

BD Ratanjee, Lipidology Division, Department of Internal Medicine, Groote Schuur Hospital, Cape Town, South Africa

EA Goddard, Division of Gastroenterology, Department of Paediatrics and Child Health, Red Cross War Memorial Children’s Hospital and University of Cape Town, South Africa

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Cite this article

South African Journal of Child Health 2021;15(1):53. DOI:10.7196/SAJCH.2021.v15i1.01767

Article History

Date submitted: 2021-04-30
Date published: 2021-04-30

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