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Hi I Am Doing A Case Study And I Have
Question: Hi
I am doing a case study and I have some questions
The baby has hemolytic anemia (morphology) caused by HDFN, thrombocytopenia, anaphylaxis (referring immunoglobulin levels), and he needs blood transfusion from his sister.
are these right diagnosis??
XXXXXXX White was admitted to hospital at 11 months of age with an episode of bloody diarrhoea after which he appeared to be very pale. Initially breast fed, he had a previous history of severe reflux and fussy feeding behaviour which eased following the reduction of dairy products from his mother’s diet. Eczema was also noted from a few weeks of age on David’s arms and legs which was accompanied by small petechiae and became infected with Staphylcoccus aureus. He had also previously been treated for upper respiratory tract infections at 5, 7 and 9 months of age.
On further questioning David’s parents explained that XXXXXXX was a “fussy” baby and had seemed to have contracted more respiratory infections than his two older siblings, however they had thought this unremarkable as his older siblings attended day care.
On admission XXXXXXX was found to be afebrile, alert and active but distressed and tugging his ear. He had mild pallor pulse rate 92 per minute, was found to be small for his age, (under the 9th centile) and had an eczematous rash over the scalp and limbs. His ears were visualised by the attending physician and his left ear was found to be inflamed. Blood samples were taken for a number of tests and skin prick tests were undertaken. The results are displayed below along with normal ranges for the laboratory:
Results
Blood count
White blood cell count (x109/L): 7.4 (normal range 6 – 18)
Haemoglobin (g/dL): 6.0 (normal range 10 - 13.5 )
Total lymphocyte count (x109/L): 5.1 (normal range 3.0 - 13.5)
B cells: 11%
T cells: 85%
CD4/CD8 ratio: normal
Total granulocyte count (x109/L): 4.3 (normal range 1 - 9)
Platelet count (x109/L): 15 (normal range 150 – 350)
Immunoglobulins
IgG (mg/dL) 750 (normal range 235 – 1350)
IgA (mg/dL) 152 (normal range 0 – 83)
IgM (mg/dL) 30 (normal range >145)
IgE (unit/mL) 1550 (normal range 1.4-52)
Additional results
A Coombs test was positive
Specific antibody testing showed reduced levels of protective antibody to a number of antigens present in the routine vaccinations XXXXXXX had been administered.
HLA typing was carried out for XXXXXXX and his sisters, and one sister matched 8/8 HLA loci tested.
Skin prick testing demonstrated a wheel and flare response to milk protein.
I am doing a case study and I have some questions
The baby has hemolytic anemia (morphology) caused by HDFN, thrombocytopenia, anaphylaxis (referring immunoglobulin levels), and he needs blood transfusion from his sister.
are these right diagnosis??
XXXXXXX White was admitted to hospital at 11 months of age with an episode of bloody diarrhoea after which he appeared to be very pale. Initially breast fed, he had a previous history of severe reflux and fussy feeding behaviour which eased following the reduction of dairy products from his mother’s diet. Eczema was also noted from a few weeks of age on David’s arms and legs which was accompanied by small petechiae and became infected with Staphylcoccus aureus. He had also previously been treated for upper respiratory tract infections at 5, 7 and 9 months of age.
On further questioning David’s parents explained that XXXXXXX was a “fussy” baby and had seemed to have contracted more respiratory infections than his two older siblings, however they had thought this unremarkable as his older siblings attended day care.
On admission XXXXXXX was found to be afebrile, alert and active but distressed and tugging his ear. He had mild pallor pulse rate 92 per minute, was found to be small for his age, (under the 9th centile) and had an eczematous rash over the scalp and limbs. His ears were visualised by the attending physician and his left ear was found to be inflamed. Blood samples were taken for a number of tests and skin prick tests were undertaken. The results are displayed below along with normal ranges for the laboratory:
Results
Blood count
White blood cell count (x109/L): 7.4 (normal range 6 – 18)
Haemoglobin (g/dL): 6.0 (normal range 10 - 13.5 )
Total lymphocyte count (x109/L): 5.1 (normal range 3.0 - 13.5)
B cells: 11%
T cells: 85%
CD4/CD8 ratio: normal
Total granulocyte count (x109/L): 4.3 (normal range 1 - 9)
Platelet count (x109/L): 15 (normal range 150 – 350)
Immunoglobulins
IgG (mg/dL) 750 (normal range 235 – 1350)
IgA (mg/dL) 152 (normal range 0 – 83)
IgM (mg/dL) 30 (normal range >145)
IgE (unit/mL) 1550 (normal range 1.4-52)
Additional results
A Coombs test was positive
Specific antibody testing showed reduced levels of protective antibody to a number of antigens present in the routine vaccinations XXXXXXX had been administered.
HLA typing was carried out for XXXXXXX and his sisters, and one sister matched 8/8 HLA loci tested.
Skin prick testing demonstrated a wheel and flare response to milk protein.
Brief Answer:
Suggests an immunodeficiency disorder
Detailed Answer:
Hi dear,
Welcome to Ask A Doctor service
I am Dr Aslam here, Pediatrician, to help you.
Before commenting on the diagnosis, I would like to get few more details regarding this. Kindly go through the following questions:
1. Is there any family history of allergy(asthma/eczema/nasal allergy) or immunodeficiency in close relatives?
2. Were the previous infections trivial ones, or needing admission and injectable antibiotics?
3. Was he advised just blood transfusion, or bone marrow transplantation(HSCT) therapy?
4. Was any bone marrow test done so far? If yes, I would like to see the report
5. I would also like to know his previous blood reports- especially his baseline Hemoglobin level and platelet count before the present episode of bloody diarrhea. Also, his present renal function tests(urea and creatinine levels).
6. I would be thankful if you reveal your relation with the patient and purpose of the query also.
From the information given, this can either be an acute attack of HUS(hemolytic uremic syndrome) if low hemoglobin and platelet count appeared suddenly after bloody diarrhea, or this can be a congenital immunodeficiency syndrome if these issues were there even before. I would not consider a diagnosis of anaphylaxis solely based on immunoglobulin levels.
Kindly get back with details, so that I can guide you better
Regards, Dr Aslam
Suggests an immunodeficiency disorder
Detailed Answer:
Hi dear,
Welcome to Ask A Doctor service
I am Dr Aslam here, Pediatrician, to help you.
Before commenting on the diagnosis, I would like to get few more details regarding this. Kindly go through the following questions:
1. Is there any family history of allergy(asthma/eczema/nasal allergy) or immunodeficiency in close relatives?
2. Were the previous infections trivial ones, or needing admission and injectable antibiotics?
3. Was he advised just blood transfusion, or bone marrow transplantation(HSCT) therapy?
4. Was any bone marrow test done so far? If yes, I would like to see the report
5. I would also like to know his previous blood reports- especially his baseline Hemoglobin level and platelet count before the present episode of bloody diarrhea. Also, his present renal function tests(urea and creatinine levels).
6. I would be thankful if you reveal your relation with the patient and purpose of the query also.
From the information given, this can either be an acute attack of HUS(hemolytic uremic syndrome) if low hemoglobin and platelet count appeared suddenly after bloody diarrhea, or this can be a congenital immunodeficiency syndrome if these issues were there even before. I would not consider a diagnosis of anaphylaxis solely based on immunoglobulin levels.
Kindly get back with details, so that I can guide you better
Regards, Dr Aslam
Above answer was peer-reviewed by :
Dr. Nagamani Ng
Hi Dr Aslam
thank you for the reply
But I am afraid to tell you that these are the only information I have.
So, since it is not clear that these issues were before, it is most likely HUS?
thank you for the reply
But I am afraid to tell you that these are the only information I have.
So, since it is not clear that these issues were before, it is most likely HUS?
Brief Answer:
Can be either
Detailed Answer:
Hi dear,
It is difficult to come to a conclusion without getting baseline status/past history of the case. I will substantiate both scenarios.
1. If the baby was otherwise doing somewhat well with average/above average anthropometric parameters for age(weight and length), and developed a sudden onset of anemia and thrombocytopenia following a bloody diarrhea, high chance of this being HUS. In this case, a peripheral smear, urine out put and serum creatinine will help us to confirm the diagnosis.
2. On the other hand, if baby has failure to thrive, is getting repeated infections needing injectable antibiotics, with given abnormality of immunoglobulin profile, congenital immunodeficiency is a strong possibility. Given the association of eczema, anemia and thrombocytopenia, we have to consider Wiskott Aldrich syndrome.
I hope this answer will help
If you need further clarification, I will be happy to help
Regards, Dr Aslam
Can be either
Detailed Answer:
Hi dear,
It is difficult to come to a conclusion without getting baseline status/past history of the case. I will substantiate both scenarios.
1. If the baby was otherwise doing somewhat well with average/above average anthropometric parameters for age(weight and length), and developed a sudden onset of anemia and thrombocytopenia following a bloody diarrhea, high chance of this being HUS. In this case, a peripheral smear, urine out put and serum creatinine will help us to confirm the diagnosis.
2. On the other hand, if baby has failure to thrive, is getting repeated infections needing injectable antibiotics, with given abnormality of immunoglobulin profile, congenital immunodeficiency is a strong possibility. Given the association of eczema, anemia and thrombocytopenia, we have to consider Wiskott Aldrich syndrome.
I hope this answer will help
If you need further clarification, I will be happy to help
Regards, Dr Aslam
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Above answer was peer-reviewed by :
Dr. Nagamani Ng
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