A four year old boy. His mother is worried that he is looking rather pale and has been unusually tired and off his food. He has a sore throat and occasional fever over the last week. He had been given paracetamol with occasional ibuprofen for presumed viral infection which seemed to help. He has just started school and numerous infections had been ‘going around’. When you see the child he is very pale and allows you to examine him fully without much complaint.
Making the diagnosis
In this case the MCV was normal; as were B12/folate/ferritin. There were no abnormalities in the rest of the blood count and there were no extra-haematological features. Diamond Blackfan anaemia is usually diagnosed in the neonatal period less than six months. There was mild splenomegaly on examination. The blood film showed spherocytosis but surprisingly there was no polychromasia which indicates lack of red cell production. Spherocytosis is seen in various haemolytic anaemias including hereditary spherocytosis, autoimmune haemolytic anaemia and congenital dyserythropoietic anaemias. In keeping with lack of polychromasia the reticulocyte count was very low.
Finnd the full case and diagnosis here:
Case 63 – summary
No comments:
Post a Comment