Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott–Aldrich syndrome |
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| Authors: | Pandiarajan Vignesh Deepti Suri Amit Rawat Yu Lung Lau Anmol Bhatia Ashim Das Anirudh Srinivasan Sivashanmugam Dhandapani |
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| Affiliation: | 1. Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India;2. Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China;3. Department of Radiodiagnosis, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India;4. Department of Histopathology, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India;5. Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India |
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| 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. |
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| Keywords: | CNS lymphoma primary sclerosing cholangitis Wiskott– Aldrich syndrome |
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