rgr
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A 13 year-old male presents to the emergency room with a deep skin abrasion on his knee. He states that it had not stopped leeding since it happened during recess approximately 20-30 min ago. physical examination reveals a well developed well nourished adolescent. There are multiple purpura over his legs and arms, and a few scattered petechiae on his chest and gums. His bleeding time is 22 minutes, platelets = 300,000/mm3, hemoglobin = 11 g/dL. A trial of cyroprecipitate transfusion does not improve his bleeding time. A normal platelet transfusion does improve bleeding time. Which of the following is the correct diagnosis?
A. Bernard-Soulier syndrome
B. Henoch-Schonlein purpura
C. Idiopathic thrombocytopenic purpura
D. Thrombotic thrombocytopenic purpura
E. Von Willebrand's disease
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| syeruq
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A. Bernard Soulier Syndr.
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| ssrpk
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agree .... def. of gp-Ia receptor!
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| rgr
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Correct...nicely done. This one tripped me up.
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| ureterpolyp
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http://www.emedicine.com/ped/topic230.htm
Background: Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. The disorder was recognized to be familial and inherited in an autosomal recessive manner. In the 1970s, the molecular defect was shown to involve the absence of a platelet membrane glycoprotein. BSS is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and a tendency toward bleeding. Other disorders in this category are the May-Hegglin anomaly and gray platelet syndrome.
Pathophysiology: The underlying biochemical defect is the absent or decreased expression of the glycoprotein Ib/IX/V complex on the surface of the platelets. This complex is the receptor for von Willebrand factor (vWF), and the result of decreased expression is deficient binding of vWF to the platelet membrane at sites of vascular injury, resulting in defective platelet adhesion. This is demonstrated by the lack of aggregation of platelets in response to ristocetin, an antibiotic that normally causes platelets to aggregate. The end result is the lack of formation of the primary platelet plug and increased bleeding tendency. The cause of the thrombocytopenia is not definitely known, but it is probably related to a decreased platelet life span.
Frequency:
In the US: This syndrome is rare, with an estimated occurrence of less than 1 case per million population.
Mortality/Morbidity: Bleeding tendency is variable in severity. Bleeding can be severe with injury or surgery.
Sex: Males and females are affected with equal frequency.
History: Symptoms are consistent with low or dysfunctional platelets and include easy bruising, nosebleeds, mucosal bleeding, menorrhagia, and occasionally, gastrointestinal bleeding. The severity of symptoms may be widely variable.
Physical: The physical examination findings are consistent with low or dysfunctional platelets and may include increased bruising and mucosal bleeding.
Causes: BSS is inherited in an autosomal recessive fashion, so males and females are affected with equal frequency. Heterozygotes usually have no bleeding manifestations.
Lab Studies:
Complete blood cell count: Thrombocytopenia is a frequent finding but is variable. Giant platelets are seen on the peripheral smear.
Bleeding time: Bleeding time is usually prolonged.
Platelet aggregation studies: Platelets do not aggregate in response to ristocetin. This is not corrected by the addition of normal plasma, as seen in von Willebrand disease.
Flow cytometry: Flow cytometry can demonstrate abnormalities of platelet membrane glycoprotein.
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| rgr
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cool
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