title: Common variable immunodeficiency with coexisting central nervous system sarcoidosis: case report and literature review with implications for diagnosis and pathogenesis.
abstract: We describe a patient with a history of longstanding primary generalised epilepsy, on anticonvulsant therapy, who presented with fever, headache, worsening seizures and hallucinations. Among various investigations, the patient had high CSF protein and ACE levels, leptomeningeal nodular enhancement on MRI brain and non-caseating granulomas in the brain and meninges on the biopsy. The patient was diagnosed with neurosarcoidosis. Subsequently, he was found to be panhypogammaglobulinaemic and was diagnosed with probable common variable immunodeficiency (CVID). The coexistence of common variable immunodeficiency and neurosarcoidosis is rare. Typically, non-caseating granulomas in CVID patients are localised in the lymphatic tissue and solid organs. To our knowledge, there are only five reports of the granulomas of the central nervous system (CNS) in CVID. We discuss the diagnostic difficulties in this case and review the literature.
authors.affiliation: Department of Immunology, Royal Free Hospital, London, UK.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Dziadzio
authors.forename: Tibor
authors.initials: T
authors.lastname: Hortobágyi
authors.forename: Desmond
authors.initials: D
authors.lastname: Kidd
authors.forename: Ronnie
authors.initials: R
authors.lastname: Chee
mesh_terms: D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology*; D002493:Central Nervous System Diseases / Q000134:cerebrospinal fluid / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D017074:Common Variable Immunodeficiency / Q000134:cerebrospinal fluid / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D004829:Epilepsy, Generalized / Q000150:complications / Q000188:drug therapy; D006099:Granuloma / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008578:Meninges / Q000473:pathology*; D012507:Sarcoidosis / Q000134:cerebrospinal fluid / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology