Tag Archives: paediatrics

Case 99 – Summary

Thank you for your contribution in our #TeamHaem case this week. This week we have been looking at Diamond Blackfan anaemia (DBA). This is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. It is one of the Inherited … Continue reading

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Case 99 – update 5

Genetic testing on both parents and her brother are carried out and are all negative. Hence this is a de novo mutation of RPL5 in our little girl. You also carry out HLA typing on her and her brother, who … Continue reading

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Case 99 – update 4

Based on a diagnosis of Diamond Blackfan anaemia, a decision is made to start a regular transfusion programme until she is over 1 year of age to minimise the impact of steroids on her growth. It will also allow her … Continue reading

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Case 99 – update 3

A bone marrow biopsy has been carried out: (see below) Aspirate shows erythroid hypoplasia but no dysplastic features. Cellularity is normal and megakaryocyte & granulocyte lineages are normal. For interest, also see Trephine IHC with Glycophorin-C staining – demonstrating reduced … Continue reading

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Case 99 – update 2

A blood film has been looked at, no specific findings are noted except for anaemia and occasional spherocytes. There are no red cell fragments, no dysplastic features and no primitive cells. EMA & G6PD are in progress. Parvovirus B19 serology … Continue reading

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Case 99 – update 1

You call Mum and repeat the baby’s blood count urgently. Her repeat bloods show: Hb 63g/L Platelet 506 x 10^9 MCV 99.9fL, WBC 9.36x 10^9 Neutrophil 3.46 x 10^9 You explain to Mum that her baby is anaemic and you … Continue reading

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Case 99 – the beginning

Welcome to our new #TeamHaem case. You are working in General practice. You see a 9 month old baby girl in the morning. Her mother tells you that in recent weeks she has needed more naps and has not been … Continue reading

Posted in Anaemia, Paediatric haematology | Tagged ,

Case 96 – summary

Thank you for participating in our case this week. This week we have been looking at a case of JMML (Juvenile myelomonocytic leukaemia), which is a rare clonal haematopoietic disorder of childhood, characterised by the proliferation of granulocytic and monocytic … Continue reading

Posted in Bone marrow failure, Myeloproliferative neoplasm, Paediatric haematology | Tagged , , , , , , , , , , , , ,

Case 96 – update 4

The haematology team has now taken over his care. Bone marrow aspirate has demonstrated a hypercellular marrow with left shift, and there are increased myeloid and monocyte lineages. Blast count is about 4%. There is occasional evidence of haemophagocytosis and … Continue reading

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Case 96 – update 3

The blood film has been reported: – leukocytosis with neutrophilia and monocytosis, there is left shift and toxic granulation and vacuolation. Occasional primitive cells ~ 2%. No nucleated RBCs. The appearances might be reactive/infection related, and infection as well as … Continue reading

Posted in Bone marrow failure, Laboratory morphology, Myeloproliferative neoplasm, Paediatric haematology | Tagged , , , , , , , , , , , ,

Case 96 – update 2

An USS abdomen has been performed which confirms mild hepato-splenomegaly. CXR was reported as normal. Faecal elastase, TTG, TFTs, ILGF1 all normal. You phone the haematology registrar to look at the blood film in view of the abnormal FBC. Questions: … Continue reading

Posted in Bone marrow failure, Laboratory morphology, Myeloproliferative neoplasm, Paediatric haematology | Tagged , , , , , , , , ,

Case 96 – update 1

This 13 month old boy was born at 39/40 by normal delivery. His birth weight was 2.6kg. He is normally fit and well with no significant problems and no previous hospital admissions. He is up to dates with all his … Continue reading

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Case 96 – the beginning

Welcome to our new #TeamHaem case. You are an SHO in a general paediatric outpatient clinic. Your next patient is a new GP referral – a 13 month old boy who has not been putting on weight for the past … Continue reading

Posted in Paediatric haematology | Tagged ,

Case 92 – summary

Thanks for your help with the cases. This week we have looked at three different scenarios regarding bleeding or bruising presenting in the paediatric population. The cases although different have some common themes: Coagulation testing in paediatrics is challenging for … Continue reading

Posted in Acquired bleeding, Inherited bleeding, Paediatric haematology | Tagged , , , , , , , , , , , , , , , ,

Case 92 – update part A

Thanks for your help so far An 8 week old baby boy born at 40+2 by Normal vaginal delivery has a CT that confirms a subdural haemorrhage. Results: (With age adjusted reference ranges) FBC – Hb 120 (Low) MCV 120 … Continue reading

Posted in Acquired bleeding, Inherited bleeding, Paediatric haematology | Tagged , , , , , ,

Case 92 – the beginning

This week we will be looking at investigation of bleeding and bruising in the paediatric setting with three short cases. Case 1 An 8 week old baby boy born at 40+2 by Normal vaginal delivery presents with a reduced consciousness … Continue reading

Posted in Acquired bleeding, Inherited bleeding, Paediatric haematology | Tagged , , , , ,

Case 83 – summary

Many thanks to everyone who contributed to our case. This week the case centred on a pregnant female who was an obligate carrier of Haemophillia A (Her Father was affected). She had a factor VIII level of 54%. She was … Continue reading

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Case 83 – update 3 

Our pregnant patient had a factor VIII level of 54%. She is a carrier of intron 22 inversion as predicted from family history.  The free fetal DNA testing confirms she is carrying a male fetus. The patient has decided that … Continue reading

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Case 76 – summary

This case focussed on a newly diagnosed patient with haemophilia A. The patient was three days old and presented non-specifically unwell and feeding poorly. The differential here is wide from sepsis to hypoglycaemia to congenital heart defects and metabolic disorders. … Continue reading

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Case 76 – update 4

Our patient is doing well with recombinant VIII replacement. Monitoring scans reveal shrinking of the haemorrhage. On further questioning his mother suffered bleeding post dental extraction requiring re-packing and menorrhagia along with easy bruising. Haemophilia A is an X linked … Continue reading

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