A mother presents to a 2-year-old very pale child. The physical examination shows massively hepatosplenomegaly with skeletal deformities. Lab investigations show anaemia and low blood platelets. Liver biopsy shows accumulation of glucocerebrosides. The child is most likely suffering from:Select one:a. Tay Sachs diseaseb. Sandhoff Diseasec. Gaucher Diseased. Fabry Disease

Baker-Winegrad Disease is rare congenital disorder caused by a decrease in the activity of fructose-1,6-bisphosphatase. What are the likely symptoms of this disease?Group of answer choicesIncreased glycogen storage and lactate acidosisDecreased glycogen storage and low fasting blood glucose levelsHigh fasting blood glucose levels and lactate acidosisLow fasting blood glucose levels and lactate acidosis

A 5 days child brought with a complaint of pufiness of face and hematuria since 4 days whats the probable diagnosis?

A 4-year-old girl has the following blood indices:Hb 50 g/LMCV 62 fLWBC and platelets are normalreticulocytes are 500 x 109/L (upper normal limit is 100 x 109/L)She most likely has:Question 6Select one:a.Pernicious anaemiab.Hereditary spherocytosis syndromec.autoimmune haemolytic anaemiad.iron deficiency anaemiae.Thalassemia

In a newborn presenting with jaundice and normocolic stools, which should be ruled out? a) gauche b) alpha antitrypsin deficiency c) galactosemia d) cytomegalovirus e) glycogen type 1 storage disease

Which of the following is not an autoimmune disease?ANSWERGraves’ diseaseCeliac diseaseLupusHemolytic disease of the newborn