title: Intracranial hypertension in siblings with infantile hypercalcemia.
abstract: BACKGROUND
  Idiopathic intracranial hypertension is a clinical condition with elevated intracranial pressure of uncertain etiology. Although various underlying causes are suspected and familial occurrence has also been reported, however, it still remains an unexplained phenomenon.
  
  
  METHODS
  We report the case of dizygotic siblings with a known CYP24A1 mutation resulting in chronic hypercalcemia and impairment of kidney function. At the same point in time both of them developed intracranial hypertension resistant to conservative therapy necessitating therefore ventriculoperitoneal shunt implantation. In both children magnetic resonance imaging showed slightly hypoplastic sinus transversus as the potential underlying cause.
  
  
  CONCLUSIONS
  The simultaneous clinical presentation could be due to a genetic factor or might be a component of the underlying disease or the consequence of its treatment. Further cases and clinical experience are needed to clarify this issue.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Dufek
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: Rainer
authors.initials: R
authors.lastname: Seidl
authors.affiliation: Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Vienna, Austria.
authors.forename: Maria
authors.initials: M
authors.lastname: Schmook
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: Klaus
authors.initials: K
authors.lastname: Arbeiter
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller-Sacherer
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: Krisztina
authors.initials: K
authors.lastname: Heindl-Rusai
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D005260:Female; D005632:Fructose / Q000031:analogs & derivatives / Q000627:therapeutic use; D006801:Humans; D006934:Hypercalcemia / Q000150:complications* / Q000235:genetics*; D007223:Infant; D019586:Intracranial Hypertension / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D035781:Siblings; D000077236:Topiramate; D014429:Twins, Dizygotic
chemical_list: D000927:Anticonvulsants; D000077236:Topiramate; D005632:Fructose; D000086:Acetazolamide