title: An acquired Bernard-Soulier-like platelet defect associated with juvenile myelodysplastic syndrome.
abstract: Bernard-Soulier syndrome is an inherited bleeding abnormality characterized by thrombocytopenia with large platelets and deficiency of the platelet membrane glycoprotein (GP) Ib-IX complex. We have identified a young female with an acquired Bernard-Soulier-like platelet defect and a coexisting primary myelodysplastic disorder. Abnormal bruising had developed at age 5. A normal platelet count with some giant platelets was noted at age 7. At age 9 she developed a large haematoma following surgery. Laboratory investigation revealed thrombocytopenia and large platelets. Platelet membrane glycoprotein analysis showed a marked deficiency of the components of the GP Ib-IX complex (approximately equal to 25% of normal). Flow cytometry revealed two populations of platelets: a predominant population of large platelets lacking the GP Ib-IX complex and a minor population of normal-sized platelets with normal GP Ib-IX expression. The patient developed progressive anaemia, more severe thrombocytopenia and neutropenia, and circulating blast cells were seen. A bone marrow showed gross hypercellularity with marked dysplasia of all three lineages and increased blasts. Marrow cytogenetic studies showed the presence of monosomy 7 in all metaphases, with an additional trisomy 21 in 10%. Peripheral blood cells were normal 46XX. The above data are consistent with an acquired myelodysplastic syndrome associated with a Bernard-Soulier-like platelet defect.
authors.affiliation: Department of Medicine, University of Sydney, Westmead Hospital, N.S.W., Australia.
authors.forename: M C
authors.initials: MC
authors.lastname: Berndt
authors.forename: A
authors.initials: A
authors.lastname: Kabral
authors.forename: P
authors.initials: P
authors.lastname: Grimsley
authors.forename: N
authors.initials: N
authors.lastname: Watson
authors.forename: T I
authors.initials: TI
authors.lastname: Robertson
authors.forename: K F
authors.initials: KF
authors.lastname: Bradstock
mesh_terms: D001606:Bernard-Soulier Syndrome / Q000097:blood / Q000150:complications* / Q000235:genetics; D001791:Blood Platelet Disorders / Q000150:complications*; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000150:complications* / Q000235:genetics