A 1-year-old boy presented with failure to thrive with symptoms of severe fat malabsorption from bih. The baby was born at 39 weeks gestation the spontaneous vaginal delivery outside the hospital. The mother of the child told that the stools of the child were pale, foul smelling and bulky. On examination, Distended abdomen Absent DTRs Slow intellectual development Lab findings revealed low levels of serum cholesterol and serum triglycerides and non-detectable VLDL and chylomicron levels.. Peripheral blood smear Fundus examination What of the following fatty acids should be most likely avoided in diet in above disease: -
This is a case of Abetalipoproteinemia. 1st image shows the acanthocytes in the peripheral blood smear. 2nd image shows the atypical retinitis pigmentosa seen in this disease. Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver Leads to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth This condition is caused by genetic variants in the MTTP gene Autosomal recessive pattern. Limiting long-chain fat intake can allete intestinal symptoms.
VLCFA
MCFA
SCFA
LCFA
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