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Familial idiopathic intracranial hypertension with spinal and radicular pain
R Santinelli1, C Tolone, R Toraldo
1Department of Pediatrics, Second Pediatric Clinic, Second University of Naples, Italy.
Insights
Idiopathic intracranial hypertension (IIH) can affect families, presenting without obesity. This case series highlights IIH as a chronic condition requiring ophthalmologic monitoring and potential surgical intervention.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Idiopathic intracranial hypertension (IIH) is a neurological disorder characterized by increased intracranial pressure without a clear cause.
- While often associated with obesity, familial cases of IIH can present atypically.
Observation:
- This case report details a mother and her two sons diagnosed with IIH.
- The patients presented without obesity, distinguishing them from previously reported familial cases.
- Neuroimaging revealed an empty sella in the mother and spinal/radicular pain in the sons.
Findings:
- IIH manifested at different times in the mother and sons.
- Permanent visual loss occurred in the mother and the younger son.
- The condition was observed to be chronic, necessitating long-term management.
Implications:
- This study underscores the importance of considering IIH in familial contexts, even in the absence of obesity.
- Ophthalmologic surveillance is crucial for managing the chronic nature of IIH and preventing visual impairment.
- Surgical treatment options should be considered for patients with persistent or severe IIH.
Objective:
To describe a mother and her 2 sons affected by idiopathic intracranial hypertension (IIH), associated in the sons with root irritation symptom. Unlike the other 4 families reported previously, obesity was not present in our patients.
Design:
Case reports.
Setting:
Department of pediatrics in a university school of Medicine, Naples, Italy.
Patients:
A mother (aged 36 years) and her 2 sons (aged 14 and 9 years) developed IIH at different times. Neuroimaging showed an empty sella in the mother, while IIH was associated with spinal and radicular pain in her 2 sons. The mother and the younger son developed permanent visual loss.
Conclusions:
Ophthalmologic follow-up in our patients indicates that IIH is a chronic disease. Surgical treatment should be considered an option.