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, intraventricu-lar 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