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.

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.

• Authors: Stephanie Dufek, Rainer Seidl, Maria Schmook, Klaus Arbeiter, Thomas Müller-Sacherer, Krisztina Heindl-Rusai
• Journal: Neuropediatrics (Neuropediatrics) Vol. 46 Issue 1 Pg. 49-51 (Feb 2015) ISSN: 1439-1899 [Electronic] Germany
• PMID: 25305753 (Publication Type: Case Reports, Journal Article)
• Copyright: Georg Thieme Verlag KG Stuttgart · New York.

Chemical References

• Anticonvulsants
• Topiramate
• Fructose
• Acetazolamide

Topics

• Acetazolamide (therapeutic use)
• Anticonvulsants (therapeutic use)
• Brain (pathology)
• Female
• Fructose (analogs & derivatives, therapeutic use)
• Humans
• Hypercalcemia (complications, genetics)
• Infant
• Intracranial Hypertension (complications, diagnosis, genetics)
• Magnetic Resonance Imaging
• Siblings
• Topiramate
• Twins, Dizygotic