Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndrome

Coman, D., Herbert, A. R., McGill, J., Lockwood, L. and Hallahan, A. R. (2008) Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndrome. Bone Marrow Transplantation, 42 4: 293-294. doi:10.1038/bmt.2008.163


Author Coman, D.
Herbert, A. R.
McGill, J.
Lockwood, L.
Hallahan, A. R.
Title Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndrome
Journal name Bone Marrow Transplantation   Check publisher's open access policy
ISSN 0268-3369
1476-5365
Publication date 2008-08-02
Year available 2008
Sub-type Letter to editor, brief commentary or brief communication
DOI 10.1038/bmt.2008.163
Open Access Status
Volume 42
Issue 4
Start page 293
End page 294
Total pages 2
Place of publication Basingstoke, U. K.
Publisher Nature Publishing Group
Language eng
Subject 11 Medical and Health Sciences
1103 Clinical Sciences
Formatted abstract
Hoyeraal–Hreidarsson syndrome (HHS, OMIM 500545) is a multisystem disease believed to represent a severe variant of dyskeratosis congenita (DC, OMIM 305000). We report the case of a 40-month-old girl with classical features of HHS, including cerebellar hypoplasia, oral ulceration and BM failure. She is the 19th case of HHS and only the 4th female reported in the medical literature. She received an unrelated cord stem cell transplant with a fludarabine-based reduced-intensity conditioning (RIC) regime. To the best of ourknowledge, she is only the fourth HHS patient to receive a haematopoietic stem cell transplantation (HSCT). Besides reactivation of CMV infection, there was minimal regimen-related toxicity associated with the stem cell transplant. This case highlights the classic features of HHS, the most likely locus of heterogeneity associated with HHS and the importance of considering the diagnosis before transplant.
© 2008 Macmillan Publishers Limited All rights reserved
Keyword Thrombocytopenia
Bone marrow biopsy
Bone marrow depression
Cerebellar ataxia
Cord blood stem cell transplantation
Cytomegalovirus infection
Erythrocyte transfusion
Hoyeraal Hreidarsson
Whole body radiation
Dyskeratosis congenita
Q-Index Code CX
Q-Index Status Provisional Code
Institutional Status Unknown
Additional Notes Published under "Letters to the Editor"

Document type: Journal Article
Sub-type: Letter to editor, brief commentary or brief communication
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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Created: Wed, 10 Feb 2010, 21:26:22 EST by Jon Swabey on behalf of Faculty Of Health Sciences