Question

What is Paris Trousseau Syndrome?

Answer 1

Paris-Trousseau Syndrome is an inherited disorder, a type of contiguous gene syndrome that is associated with the deletion of the chromosome $11q$. The main cause of the syndrome is the abnormal transcription of the factor $FLI1$. The end portion of the chromosome $11q$ is deleted. This is a type of platelet-related bleeding disorder.

Complete answer:
Paris-Trousseau is a form of thrombocytopenia accompanied by the autosomal recessive inheritance of a DNA binding domain mutation $FL1$.
Thrombocytopenia is a condition associated with low blood count in the patient. Paris-Trousseau syndrome includes mild bleeding tendency, thrombocytopenia(that can vary), dysmorphic facies, abnormal large alpha granules in the platelets, and dysmegakaryopoiesis. Dysmorphic facies is a condition of having a wrapped perception of appearance in the face. These include arched eyebrows, low-set ears, and broad nasal roots. Dysmegakaryopoiesis is a type of dysplastic megakaryocyte in the bone marrow. The children affected with this syndrome may have heart defects, neurological impairment, growth delay, and low platelet count. The abnormal functions of platelets in Paris Trousseau Syndrome include prolongation of bleeding time despite normal platelet numbers. The alpha granules of the platelets don't release granules in response to thrombin.

Note:
There is another similar condition occurring due to the loss of the genetic material from the chromosome $11$; this syndrome is known as the Jacobsen Syndrome. The deletion occurs at the long arm (q) of the above-mentioned chromosome. The symptoms include delayed development of motor skills and speech accompanied by cognitive impairment, learning difficulties, compulsive behavior, and a short attention span.