Year: 2014
Type: article
Study design: Case Report
Abstract: Idiopathic normal pressure hydrocephalus (iNPH) is characterized by ventriculomegaly, gait disturbance, cognitive impairment and urinary incontinence. Familial NPH cases are extremely rare. The first familial NPH case was reported in 1984 by Portenoy et al.1 and recently, by Cusimano et al.2 Takahashi et al.3 and McGirr & Cusimano.4 We report a new familial NPH case with two iNPH sisters and their daughters, who are suspected of developing NPH in future. Patient 1, a 71-year-old woman, and her sister, patient 2, a 73-year-old woman, presented with a 3-year and 5-year history, respectively, of gait disturbance and cognitive impairment and a long-lasting incontinence, since the age of 45. They presented magnetic wide based steps and deficits in executive functions. Patients’ medical histories included diabetes mellitus and arterial hypertension. Magnetic resonance imaging (MRI) showed ventriculomegaly (Evans’ index: 0.32 and 0.37, respectively) and empty sella. Both patients improved after ventriculoperitoneal shunt. A 48-year-old woman, the daughter of patient 1, and a 45-year-old woman, the daughter of patient 2, complained of urinary incontinence over the last 5 and 2 years, respectively. Their urological examination was normal. They had neither gait nor cognitive deficits. MRI revealed subarachnoid space enlargement over convexity and empty sella (Evans’ index: 0.28 and 0.26, respectively). All patients signed consent forms. Contrary to previous reports, our patients presented with urinary incontinence during their early forties and subarachnoid space enlargement over convexity and empty sella. Empty sella is not uncommon in iNPH and in fact is associated with positive cerebrospinal fluid tap test responses.5 However, the iNPH–empty sella correlation remains unknown. Studying the two daughters’ data will help us to investigate this correlation. Presently, although a genetic predisposition for iNPH is proposed,6 further studies are needed to provide additional evidence regarding the heritability of iNPH. This is of high importance, as the number of familial cases has increased over recent years.
DOI: 10.1111/pcn.12176
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2019900347