title: A Male Infant with Abetalipoproteinemia: A Case Report from Iran.
abstract: 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.
authors.affiliation: Department of Pediatric Gastroenterology, Children's Medical Center, Tehran university of Medical Sciences, Tehran, Iran.
authors.forename: Parisa
authors.initials: P
authors.lastname: Rashtian
authors.affiliation: Department of Pediatric Gastroenterology, Children's Medical Center, Tehran university of Medical Sciences, Tehran, Iran.
authors.forename: Mehri
authors.initials: M
authors.lastname: Najafi Sani
authors.affiliation: Department of Pediatric Gastroenterology, Children's Medical Center, Tehran university of Medical Sciences, Tehran, Iran.
authors.forename: Rozita
authors.initials: R
authors.lastname: Jalilian
keywords: Abetalipoproteinemia; Failure to thrive; Microsomal triglyceride transfer protein