TITLE:
Jacobsen/Paris-Trousseau Syndrome: Report of a Case with Emphasis on Platelet’s Light Microscopic and Ultrastructure Findings
AUTHORS:
Michael Losos, Basil M. Kahwash, Miriam Conces, Joel Thompson, Riten Kumar, Samir B. Kahwash
KEYWORDS:
Jacobsen Syndrome, Paris-Trousseau Syndrome, Platelet Microscopic Findings, Electron Microscopy
JOURNAL NAME:
Open Journal of Pathology,
Vol.6 No.1,
January
6,
2016
ABSTRACT: Jacobsen syndrome (JS) is a rare, inherited
disorder, characterized by facial and skull dysmorphism, mental retardation,
and platelet abnormalities. Paris-Trousseau syndrome (PTS) is a platelet
function disorder that may be encountered in patients affected by JS. PTS is
manifested by a mild lifelong bleeding tendency. Morphologically, the presence
of large fused platelet alpha granules is characteristic. We present a case of
Jacobsen syndrome in a child and highlight the typical morphologic and
ultrastructure findings of platelets.