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Old 11-01-2012
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Arrow Gyrus Daily Questions; Internal Medicine #66

A 1 1/2 -year-old girl is sent to a children's hospital for evaluation following a nosebleed which was so severe as to require nasal packing and transfusion of platelet concentrates When a blood sample had been drawn in the emergency room for serum chemistry studies, the local hospital laboratory had noted that the clot that formed was unusual in that it failed to retract Peripheral blood smear obtained by finger puncture showed an appropriate number of normal-sized platelets. all of which were individual, without clumping At the children's hospital. it was noted that the child's parents were cousins Special platelet studies showed that the child's platelet's failed to aggregate with any physiologic aggregating agent. including a high concentration of exogenous ADP. Which of the following is the most likely diagnosis?

A. Bernard Soulier syndrome
B.-chediak Higashndromei Sy
C. May-Hegglin anomaly
D. Thrombasthenia
E.-Ven Willcbrandaease
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Old 11-01-2012
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D, Thromboasthenia (Glanzmann) think about it this way, asthenia means lazy as hell so it wont agregate

Also platelets by being normal by default rule out A
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Old 11-02-2012
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Yes The answer is D Thrombathenia.

The patient has thrombasthenia. This rare genetic disorder of platelet function has autosmal recessive inheritance.The biochemical defect appears to be a lack of the platelet membrane gycoprotein GPiib-iia.This protein normally can bind to fibrinogen and in the absence.platelet aggregation (and the resulting clot retraction can not occur.The laborotory finding listed in the question are typical .Affected indivuduals have a particular problem with severe bleeding from mucosal surfaces with commonly undego minor trauma.

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