Family, Internal Medicine, General Medical Questions/Two children with low platelet levels


My friends children live in Istanbul, even their best doctors don't compare to the doctors here in the US. Any type of recommendation is extremely helpful.

Below is the diagnosis converted into English:


Cerrahpasa Medical Facultv-Pediatric Hematology Pept
Patient is a 4 year old female patient who presented at 1 year of age with bleeding and ecchymosis. Her parents are consanguineous and there is no family history of hematological or oncological disease. Her" physical examination showed hepatosplenomegaly and was otherwise normal. Her blood count showed! leukocytosis! (woe: 51.900), normal hemoglobin and thrombocytes. Peripheral smear showed abundacy bf
mature lymphocytes. Viral serology was negative. There was no sign of an infection or systemic disease. A bone marrow aspirate was performed, it was normal with a normal LAP score. Translocations
for acute and chronic leukemia were negative. Karyotype analysis of the bone marrow showed some insignificant, minor karyotype anomalies.

On follow-up, her leucocyte count changed between 30.000-55.000. She was hospitalized on different occasions for infection and bleeding.
Most of the infections were respiratory tract infections. Because of recurrent bleeding (mostly mucosal), she was investigated and was found to have thrombocyte function abnormality. One and half year ago she had a new brother. Brother is now 1.5 year old and his blood count also showed leucytosis when he was born. His bone marrow aspirate was also normal. He had more severe and recurrent infections compared to his sister. Infections were omphalitis, purulent menengitis, severe varicella infection and urinary tract infection. He also had recurrent mucosal bleeding like gum and gastrointestinal bleeding. His investigations showed similiar results as his sister.

Thank you so much.

I am not sure......  the markedly elevated white count may be a leukemia, that should show up on the bone marrow test.  It could also be an overwhelming infection but that would have either gotten better or worse.  With the prolonged white cell elevation, I would wonder about the possibility of a leukemia.  That goes along with an enlarged spleen and having normal thrombocytes ( I see function normal but not a number ) that tends to eliminate other problems.  

Sorry I couldn't be more help

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Robert Borucki


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I am trained and boarded in Family Medicine and have also worked extensively in emergency medicine for over 10 years.

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