Paris-Trousseau Syndrome is a rare hereditary platelet disorder which is found in many patients with Jacobsen Syndrome. It was initially described at Hopital d'enfants Armand-Trousseau in Paris.

Causative mutation: deletion at 11q


Laboratory findings:

(1) thrombocytopenia present at birth, which may resolve as the patient ages

(2) platelet dysfunction

(3) giant platelets in the peripheral blood and platelets showing giant red inclusions


A bone marrow biopsy shows dysmegakaryopoiesis with micromegakaryocytes and delayed maturation.


A reduced number of serotonin adenine-rich dense bodies suggests a possible storage pool defect.

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