Published Date: September 24, 2015

A Male Infant with Abetalipoproteinemia: A Case Report from Iran

Authors: Parisa Rashtian, Mehri Najafi Sani, Rozita Jalilian

Middle East J Dig Dis. 2015 Jul;7:181-4.


Abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder caused by mutations in the microsomal triglyceride transfer protein gene (MTTP). ABL is characterized by lack of lipids and apolipoprotein B (apoB) in plasma, fat malabsorption and various clinical manifestations. We describe a 12-month-old infant boy, born from consanguineous parents and presented with diarrhea, steatorrhea, growth retardation, hypothyroidism, intraventricular brain cyst and kidney stones. The patient was diagnosed to have ABL and treated with dietary modification and oral fat-soluble vitamin replacement and followed until he reached 5 years of age.

PMID: 26396722PMC: PMC4560634