title: Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome.
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.
authors: Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Pandiarajan
authors: P
authors: Vignesh
authors: Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Deepti
authors: D
authors: Suri
authors: Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Amit
authors: A
authors: Rawat
authors: 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.
authors: Yu Lung
authors: YL
authors: Lau
authors: Department of Radiodiagnosis, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Anmol
authors: A
authors: Bhatia
authors: Department of Histopathology, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Ashim
authors: A
authors: Das
authors: Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Anirudh
authors: A
authors: Srinivasan
authors: Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Sivashanmugam
authors: S
authors: Dhandapani
mesh_terms: D000293:Adolescent; D000744:Anemia, Hemolytic, Autoimmune / Q000209:etiology / Q000473:pathology*; D001932:Brain Neoplasms / Q000209:etiology / Q000473:pathology*; D015209:Cholangitis, Sclerosing / Q000209:etiology / Q000473:pathology*; D006801:Humans; D008228:Lymphoma, Non-Hodgkin / Q000209:etiology / Q000473:pathology*; D008297:Male; D009154:Mutation / Q000235:genetics; D011379:Prognosis; D013921:Thrombocytopenia / Q000209:etiology / Q000473:pathology*; D014923:Wiskott-Aldrich Syndrome / Q000150:complications* / Q000473:pathology; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein
keywords: CNS lymphoma; Wiskott-Aldrich syndrome; primary sclerosing cholangitis