Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism

Abetalipoproteinaemia is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride. It results from mutations in the gene encoding microsomal triglyceride transfer protein. Nine-month-old girl was admitted to our hospital because of fever, cough, diarrhea and failure to thrive. She had low cholesterol and triglycerides levels according to her age. The peripheral blood smear revealed acantocytosis. Thyroid function test showed central hypothyroidism. Cranial magnetic resonance imaging revealed the retardation of myelination and the pituitary gland height was 1.7 mm. A homozygous novel mutation [c.506A>T (p. D169V)] was detected in MTTP gene. Vitamins A, D, E, and K and levothyroxine were started. The coexistence of abetalipoproteinaemia and central hypothyroidism was not previously reported in another case. A homozygous novel mutation [c.506A>T (p. D169V)] was detected in MTTP gene.