Wiskott Aldrich Syndrome, often Missed: A Case Report and Review
DOI:
https://doi.org/10.3126/jnps.v31i2.4122Keywords:
Wiskott-Aldrich syndrome, Eczema, MicrothrombocytopeniaAbstract
Wiskott-Aldrich syndrome is an X-linked recessive disorder characterized by thrombocytopenia, eczema and recurrent infections. We report a 15 month old boy who had presented with lower gastrointestinal bleed, recurrent infections and eczema. Blood picture revealed microthrombocytopenia, high IgA and IgE, and low IgM and Normal IgG levels. A diagnosis of Wiskott-Aldrich Syndrome was made, which was missed by many paediatrician even after prolonged hospital stay before admission in our Institute. The recent progress in understanding of the pathophysiology and treatment are discussed.
Key words: Wiskott-Aldrich syndrome; Eczema; Microthrombocytopenia
DOI: 10.3126/jnps.v31i2.4122
J Nep Paedtr Soc 2010;31(2):146-150
Downloads
Downloads
Published
How to Cite
Issue
Section
License
Authors who publish with this journal agree to the following terms:
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).