Published online September 1, 2004
PEDIATRICS Vol. 114 No. 3 September 2004, pp. e387-e391 (doi:10.1542/peds.2003-0651-F)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Kuijpers, T. W.
Right arrow Articles by Hennekam, R. C. M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kuijpers, T. W.
Right arrow Articles by Hennekam, R. C. M.
Related Collections
Right arrow Genetics & Dysmorphology
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Facebook   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

ELECTRONIC ARTICLE

Congenital Aplastic Anemia Caused by Mutations in the SBDS Gene: A Rare Presentation of Shwachman-Diamond Syndrome

Taco W. Kuijpers, MD, PhD*, Eline Nannenberg, MD{ddagger}, Marielle Alders, MSc{ddagger}, Robbert Bredius, MD, PhD§ and Raoul C. M. Hennekam, MD, PhD*,{ddagger}

* Emma Children’s Hospital
{ddagger} Department of Clinical Genetics, Institute for Human Genetics, Academic Medical Center, Amsterdam, Netherlands
§ Leiden University Medical Center, Leiden, Netherlands

Clinical Findings. Aplastic anemia was diagnosed at birth for a first child from healthy nonconsanguineous parents. The girl had hypoglycemia, which normalized within 2 months. Cow milk allergy was suspected initially, because of skin lesions and diarrhea, followed by severe growth retardation. Clinical and radiologic symptoms gradually became typical for Shwachman-Diamond syndrome. Two common mutations in the SBDS gene (183-184TA->CT [K62X] and IVS2(258)+2T-> C [C84fs]) were found.

Results. Bone marrow transplantation from a matched unrelated donor was unsuccessful. The genetic information from the deceased patient enabled us to perform prenatal molecular studies during the subsequent pregnancy, successfully predicting a nonaffected child.

Conclusions. This report describes for the first time the hematologic abnormalities of congenital aplastic anemia and prolonged neonatal hypoglycemia as the presenting symptoms of Shwachman-Diamond syndrome. The finding of common mutations in the presence of these symptoms at birth suggests the lack of a clear phenotype-genotype relationship in this syndrome.

Key Words: aplastic anemia • hematology • genotype • congenital • bone marrow transplantation

Abbreviations: SDS, Shwachman-Diamond syndrome • CHH, cartilage/hair hypoplasia • DKC, dyskeratosis congenita • G-CSF, granulocyte colony-stimulating factor • BM, bone marrow • BMT, bone marrow transplantation • PCR, polymerase chain reaction

Accepted Apr 8, 2004.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Facebook Facebook   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?


This article has been cited by other articles:


Home page
 CLIN PEDIATRHome page
L. A. Albrecht, S. W. Gorges, D. M. Styne, and A. A. Bremer
Shwachman-Diamond Syndrome Presenting as Hypoglycemia
Clinical Pediatrics, March 1, 2009; 48(2): 212 - 214.
[PDF]

Home page
 BloodHome page
T. W. Kuijpers, M. Alders, A. T. J. Tool, C. Mellink, D. Roos, and R. C. M. Hennekam
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship
Blood, July 1, 2005; 106(1): 356 - 361.
[Abstract] [Full Text] [PDF]