Jacobsen/Paris-Trousseau Syndrome: Report of a Case with Emphasis on Platelet’s Light Microscopic and Ultrastructure Findings
نویسندگان
چکیده
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.
منابع مشابه
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic feature...
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Jacobsen syndrome and Paris-Trousseau Syndrome share similar congenital anomalies, thrombocytopenia, giant platelet alpha granules resulting from fusion of smaller organelles, and an 11q terminal deletion at 11q23.3. Similarities in the two cohorts have suggested that the Paris-Trousseau Syndrome is a variant of Jacobsen syndrome, or the same disorder. The present study has pointed out a signif...
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The thrombocytopenia in an infant with clinical features of Jacobsen's syndrome characterized by multiple congenital anomalies, cardiac defects, psychomotor retardation, and deletion of chromosome 11 at 11q23.3 has been evaluated. Study of his platelets in the electron microscope revealed giant alpha granules in his cells identical in appearance to those reported in the family with Paris-Trouss...
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1 AP-HP, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France 2 UPMC Univ Paris 06, Paris, France 3 CHU d’Angers, Département de Biochimie et Génétique, Angers, France 4 UMR CNRS 6214—INSERM 771, Angers, France 5 AP-HP, Hôpital Bicêtre, Laboratoire de Biochimie, Paris, France 6 AP-HP, Hôpital Armand Trousseau, Service de Chirurgie Orthopédique et du Neurohandicap, Paris, France 7 ...
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1 AP-HP, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France 2 UPMC Univ Paris 06, Paris, France 3 CHU d’Angers, Département de Biochimie et Génétique, Angers, France 4 UMR CNRS 6214—INSERM 771, Angers, France 5 AP-HP, Hôpital Bicêtre, Laboratoire de Biochimie, Paris, France 6 AP-HP, Hôpital Armand Trousseau, Service de Chirurgie Orthopédique et du Neurohandicap, Paris, France 7 ...
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