Thrombasthenia 3.57.51 PM

Thrombasthenia 3.57.51 PM - Thrombasthenia...

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    Thrombasthenia CPC  24 th  November 2002. Dr. Tariq Roshan Department of Hematology.
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Case History. SNS: a 3-year old Malay girl. Presented with  8 months H/O recurrent epistaxis. Failure to thrive. Problem started at the age of 1 year The condition became worse over the previous 8  months The frequency of epistaxis has been once in every 3-4  days
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Epistaxis was sometimes associated with gum  bleeding Patient sought medical attention and was  admitted to hospital Kota Bharu In HKB patient noted to be pale and diagnosed  anemic secondary to chronic blood loss Patient was transfused and was investigated for the  possible causes of bleeding including those of  bleeding disorders No diagnosis was made during that admission. ENT examination in HKB showed no anatomical  abnormalities 8 months later the patient was admitted with the  worsening of her problem to HUSM
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Negative points in the history were Fever Easy bruising Petechiae Skin rashes Joint pain Family history Father and brother had history of epistaxis during their  childhood which resolved spontaneously
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Physical examination GPE Height and weight below 3 rd  centile Pallor Cervical lymph nodes were palpable Generalized hypotonia with mild muscle wasting noted Systemic examination Examination of CNS, CVS and Respiratory system was  normal Liver was palpable 5 cm below costal margin and spleen  palpable 8 cm below costal margin
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Laboratory Investigations Patient’s Haemoglobin  was low and total white  cell count was normal FBP showed microcytic  hypochromic anemia Normal platelet count  and morphology on  light microscopy Patient ID SNS Date Special Studies Both parents Factor IX was normal. vWF antigen assay 182% APTT Cont . INR Mixing Test Cont. Plat. BT/CT Factor VIII Factor IX HEMOSTASIS 54.2  Sec. 33.9  Sec . 1.07 39.6  Sec . 32.4 Sec. Corrected 220 x10 9 /L Prolonged 93.4% 38%
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Laboratory Investigations  contd. Patient’s RFTs were normal with mild  elevation of ALT & ALP Blood sugar and urine analysis were also  normal Patient was screened for TORCHES, all  results were negative Sputum for AFB was negative Bone marrow aspiration and trephine biopsy  were normal with no evidence of infiltration of  abnormal cells. Adequate megakaryocytes
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Conclusions drawn from the  Haemostasis data The increased bleeding time and  normal platelet count indicate a  primary hemostasis  function  problem Such data may result from platelet   disorders or vascular function  disorders Haemophilia can be excluded  considering the clinical  presentation Low factor IX can be due to 
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This note was uploaded on 12/24/2011 for the course STEP 1 taught by Professor Dr.aslam during the Fall '11 term at Montgomery College.

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Thrombasthenia 3.57.51 PM - Thrombasthenia...

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