DOI: 10.36347/sjams.2019.v07i06.027

Pages: 2168-2171

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, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, neuropathy and myopathy. We describe a 13-years -old infant boy, born from consanguineous parents and presented with growth retardation and reduced visual acuity. The patient was diagnosed to have ABL. A family investigation including the mother, the siblings, and the first cousins, was also realized to consolidate this diagnosis.