| Literature DB >> 27566838 |
Pandiarajan Vignesh1, Deepti Suri1, Amit Rawat1, Yu Lung Lau2, Anmol Bhatia3, Ashim Das4, Anirudh Srinivasan5, Sivashanmugam Dhandapani5.
Abstract
Patients with Wiskott-Aldrich syndrome (WAS) are predisposed to malignancy and autoimmunity in addition to infections. We report a male child with WAS, who had presented with recurrent pneumonia, eczema, thrombocytopenia, autoimmune hemolytic anemia, and vasculitic skin lesions. Genetic analysis revealed a classical genotype WAS 155C>T; R41X. At 2 years of follow-up, he developed persistent headache and progressive hepatomegaly. Brain imaging showed a mass in the right frontal region, which on histopathology was shown to be high-grade non-Hodgkin lymphoma. Magnetic resonance cholangiopancreatography showed features of sclerosing cholangitis. This report extends the clinical spectrum and highlights unusual manifestations of sclerosing cholangitis and intracranial lymphoma in a patient with WAS.Entities:
Keywords: CNS lymphoma; Wiskott-Aldrich syndrome; primary sclerosing cholangitis
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Year: 2016 PMID: 27566838 DOI: 10.1002/pbc.26196
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN: 1545-5009 Impact factor: 3.167