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Blood, 1 February 2001, Vol. 97, No. 3, pp. 826-828
BRIEF REPORT
Macrothrombocytopenia with abnormal demarcation membranes in
megakaryocytes and neutropenia with a complete lack
of sialyl-Lewis-X antigen in leukocytes a new syndrome?
Thiebaut-Noel Willig,
Jeanine Breton-Gorius,
Carole Elbim,
Vincent Mignotte,
Cecile Kaplan,
Rosella Mollicone,
Catherine Pasquier,
Anne Filipe,
Francoise Miélot,
Jean-Pierre Cartron,
Marie-Anne Gougerot-Pocidalo,
Najet Debili,
Josette Guichard,
Jean-Paul Dommergues,
Narla Mohandas, and
Gil Tchernia
From the Service de Pédiatrie et Laboratoire
d'Hématologie, d'Immunologie et de Cytogénétique,
CHU Kremlin Bicêtre, Assistance Publique-Hôpitaux de Paris,
Le Kremlin Bicetre, France; Life Science Division, Lawrence Berkeley
National Laboratory, Berkeley, CA; Unité INSERM U 362 and
Unité INSERM U504, Villejuif, France; and INSERM U474,
Maternité Port Royal; Service d'Hématologie et
d'Immunologie biologiques et Unité INSERM U479, Hôpital
Bichat Claude Bernard; Laboratoire d'Immunologie Plaquettaire and
Unité INSERM U76, INTS; and Unité INSERM U479, CHU X. Bichat, Paris, France.
A new megathrombocytopenic syndrome with giant platelets in
peripheral blood and severe thrombocytopenia was diagnosed in a
4-month-old boy. His clinical course included repeated hemorrhagic incidents leading to death at age 37 months. Bone marrow
ultrastructural analysis revealed numerous dystrophic megakaryocytes
with giant membrane complexes. Although these features were similar to
those described for megakaryocytes in mice lacking the gene for
transcription factor p45-NF-E2, no abnormalities in the
p45-NF-E2 gene could be documented. Platelet membrane
analysis showed a reduction in glycoprotein (GP) Ib, but normal content
of GPIIb and GPIIIa. Analysis of genes encoding for GPIb  and  ,
GPV, and GPIX ruled out the possibility that the observed platelet
abnormality is a variant of Bernard-Soulier syndrome. A moderate
neutropenia was associated with a complete lack of expression of
sialyl-Lewis-X on the surface of polymorphonuclear neutrophils. A
common defect in posttranslational modification of glycoproteins could
account for the diverse cellular abnormalities.
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