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.
To read more or access our algorithms and calculators, please log in or register.
