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Intracranial aneurysms associated with hyperimmunoglobulinaemia E (Job) syndrome: report of two cases
  1. A R Fathi1,2,
  2. A Vortmeyer1,
  3. S M Holland3,
  4. R M Pluta1
  1. 1Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
  2. 2Department of Neurosurgery, Kantonsspital Aarau, Aarau, Switzerland
  3. 3Laboratory of Host Defense, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
  1. Correspondence to Ryszard M Pluta, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Room 3D20, Building 10, 10 Center Drive, Bethesda, MD 20892, USA; rysiek{at}helix.nih.gov

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Hyperimmunoglobulinaemia E (HIES) syndrome is a rare immunodeficiency disease inherited as a single locus autosomal dominant trait with variable expression1 presenting with multisystem infections.2 The diagnosis is based on a scoring system assessing multiple features such as chronic eczema, recurrent pyogenic skin and lung infections, significantly increased serum levels of immunoglobulin E (>2000 IU), peripheral eosinophilia, characteristic faces, joint hyperextensibility, and pathological long bone fractures.1 Treatment includes medical and surgical management of the infections and, in severe cases, intravenous administration of immunoglobulin or recombinant interferon gamma. Central nervous system (CNS) abnormalities such as lacunar infarctions, Chiari type 1 malformations, cerebritis and parenchymal and subarachnoid haemorrhage (SAH) are common in this syndrome2.

Despite the known CNS involvement,2 this syndrome has not been previously described in the neurosurgical literature. We present two cases with known HIES with aneurysmal SAH and discuss possible causes of aneurysm formation.

Case reports

Both patients with confirmed diagnosis of HIES were followed up at the Warren Grant Magnuson Clinical Center under protocol 93-I-0119 with informed consent.

Case 1

A 29-year-old woman was admitted presenting with persistent headaches over a 2-week period, accompanied by transient right-sided weakness and loss of consciousness. In the interim, she had multiple severe skin infections, cavitary pulmonary aspergillosis and facial cellulitis. Her Hunt and Hess grade on admission was 4 (World Federation of Neurological Surgeons grade 4+; Glasgow coma score 8), accompanied by mild nuchal rigidity, right sensory deficits and right-sided hyperreflexia (3++/4) without Babinski …

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