ABSTRACT
A 5-month-old child presented to the Paediatric Outpatient Department with complaints of fever, loose stools, blood in stool, and multiple subcutaneous swellings over the chest wall. The patient was given antibiotics and treated for acute gastroenteritis with a possibility of component of cow’s milk allergy also being considered. The routine blood counts revealed platelet count of 4.94 K / mL, along with Hb 10.2 g / dL, MCV - 80 fL, WBC - 13.6 x 109 / L. An LDH of 512 U / L (normal up to 451 U / L) and ESR of 2 mm / 1st hr. Liver function tests were within normal range. Her preliminary coagulation screening test showed both PT as well as aPTT to be prolonged beyond 120 sec each. She was further sent for complete laboratory evaluation for bleeding disorder. In view of the history of foul smelling stools, suggesting malabsorption, stool sample was analysed which showed presence of fat globules. USG was reported as normal study. Blood group was O positive.Abetalipoproteinemia is a very rare metabolic, autosomal recessive disease resulting from mutations encoding microsomal triglyceride transfer protein (MTP) leading to deficiencies in the apolipoproteins B-48 and B-100 with reported prevalence of less than one case per 100,000. Typical manifestations are failure to thrive, hypocholesterolaemia and fat malabsorption. Other features like fatty liver, acanthocytosis, and anaemia are usually present in infancy and neuro-ocular complications during adolescence. Early diagnosis and management can prevent disease progression