Familial Presentation of Idiopathic Intracranial Hypertension

Abstract

Idiopathic intracranial hypertension is labeled as “idiopathic” because it has no detectable cause. Rarely familial cases have been reported. The objective of this study was to describe two sisters affected by idiopathic intracranial hypertension associated in one of them with a type 1 Chiari malformation. Two sisters (aged 34 and 27 years) developed idiopathic intracranial hypertension respectively at the ages of 33 and 26 years. Neuroimaging was normal in the second case, while in the first idiopathic intracranial hypertension was associated with a type 1 Chiari malformation. To our knowledge very few cases of familial presentation of idiopathic intracranial hypertension have been reported. Both autosomal dominant and autosomal recessive transmission of the disease have been described and a multifactorial causation with a genetic contribution postulated. The reported cases implicate genetic factors in the development of idiopathic intracranial hypertension and further research into genetic aspects of idiopathic intracranial hypertension are needed.

Keywords:

• Headache disorder
• idiopathic intracranial hypertension
• genetic predisposition