Abetalipoproteinemia - A Rare Disease Presenting as Bleeding Disorder

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

An Intriguing Case Of B-Acute Lymphoblastic Leukemia – Addressing The Diagnostic Pitfalls

Acute leukemia often presents with symptoms due to bone marrow failure. But with atypical presentations, the diagnosis may not be straight forward and requires thorough clinical examination followed by carefully selected and interpreted investigations. We present a case of acute leukemia in a child who was admitted with pain and swelling of foot. In absence of classical features, leukemia was not initially suspected and even on subsequent biopsy, the diagnosis could not be picked up, requiring thorough re evaluation. We have hereby made an effort to analyse the pitfalls in this case to help practising clinicians and pathologists who might encounter similar scenarios.