Paris-Trousseau thrombocytopenia or Paris-Trousseau syndrome is a congenital disorder caused by partial deletions of 11q23 gene accompanied by developmental abnormalities, cardiac and gastrointestinal defects and dysmorphic facial features.
Paris-Trousseau syndrome is a type of hereditary macrothrombocytopenia and it is associated with giant platelets, thrombocytopenia (low platelet count), dysmegakaryopoiesis and platelet inclusion bodies.
It is a genetic disease resulting from partial deletion of the long arm of chromosome 11 (11q23). It may be related to a mutation on FLI-1 gene, a critical transcription factor responsible for terminal megakaryocyte differentiation.
It is inherited with autosomal recessive pattern. It means that it is necessary to inherit one copy of a mutated (changed) gene from each parent.
Paris-Trousseau syndrome is a rare disorder with an estimated incidence is less than 1 case per 1 million people.
The most common symptoms of the disorder are:
In addition, people with Paris-Trousseau syndrome usually have musculoskeletal disorders and a typical facial dysmorphism:
The recommended treatment is based on supportive measures, including local measures to avoid prolonged bleeding and platelet transfusion in case of severe bleeding.