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Familial idiopathic intracranial hypertension : case report

Aim was to analyze the development and occurrence of the idiopathic intracranial hypertension and consequent visual loss in a family affected with idiopathic intracranial hypertension. We studied 15 members of the same family and found six of them affected with idiopathic intracranial hypertension, which was accompanied with visual loss as a repercussion of the disease. Idiopathic intracranial hypertension was diagnosed on neurological and radiological examination. Visual examination to establish visual loss included fundoscopy, visual acuity, visual field testing, and ultrasonography of the optic nerve. The construction of a family tree and detailed examination of 15 family members revealed idiopathic intracranial hypertension with visual disturbances, even amaurosis, and different stages of visual field constriction in three members of the family: the mother and her two daughters. Due to the symptoms of idiopathic intracranial hypertension, such as headaches, nausea, vertigo, and the presence of transient visual obscuration and papilledema, in three other members of this family (aged 16, 17, and 25 years), we considered a presumptive diagnosis of idiopathic intracranial hypertension, and the need for thorough follow-up. Medical data on the family grandmother, who died 34 years ago, suggested that she also had symptoms of idiopathic intracranial hypertension. One of the patients underwent surgical treatment by a lumbo-peritoneal shunt operation worsening of the symptoms. It is very important to include idiopathic intracranial hypertension in differential diagnosis of papilledema and recognize it in early stages to prevent vision loss. Current successful therapeutic approaches and close follow-up of such patients require teamwork of neurologists, ophthalmologists, and neurosurgeons.

Idiopathic intracranial hypertension/diagnosis; Genetic Predisposition to Disease; Papilledema; Blindness

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