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.
Keywords
idiopathic intracranial hypertension - idiopathic infantile hypercalcemia - pseudotumor
cerebri -
CYP24A1 mutation
