Neuropediatrics 2015; 46(01): 049-051
DOI: 10.1055/s-0034-1389900
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Intracranial Hypertension in Siblings with Infantile Hypercalcemia

Stephanie Dufek
1   Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
,
Rainer Seidl
1   Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
,
Maria Schmook
2   Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Vienna, Austria
,
Klaus Arbeiter
1   Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
,
Thomas Müller-Sacherer
1   Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
,
Krisztina Heindl-Rusai
1   Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
› Author Affiliations
Further Information

Publication History

13 April 2014

01 July 2014

Publication Date:
12 October 2014 (online)

Preview

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.

Case Report 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.

Conclusion 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.