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P.007 Familial idiopathic normal pressure hydrocephalus in a Canadian family
Published online by Cambridge University Press: 27 June 2018
Abstract
Background: Idiopathic Normal-pressure hydrocephalus (iNPH) is characterized by cognitive impairment, gait disturbance, enlarged ventricles with/without cerebral atrophy, with/without urinary incontinence, and normal cerebrospinal fluid pressure. Familial iNPH is very rarely described in the literature. A Canadian family with more than one generation of iNPH has never been described. Methods: Patient 1: 50-year-old female presented with wide-based and magnetic gait, multiple falls with subsequent freezing. LP with large volume tap was performed. Patient had ventriculo peritoneal (VP) shunt surgery. Patient 2: 52 year male (brother): Presented with long-standing cognitive impairment and fatigue. Montreal Cognitive Assessment (MOCA) was performed. Whole exome sequencing(WES) of both siblings as well as an unaffected first cousin was done. The father and grandmother of both patients was diagnosed with iNPH. Results: Patient 1: Opening pressure on LP was 22 cm-H2O. She responded well to large volume tap. She had VP shunt resulting in improved gait. Patient 2: Opening pressure on LP was 16cm-H2O. CSF flow study was slow for age indicative of NPH. MoCA score was 25/30. WES of patients and unaffected first cousin is underway. Conclusions: We present an undescribed Canadian family with iNPH in more than one generation. WES is underway for better understanding of genetic predesposition and inheritance of familial iNPH
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- © The Canadian Journal of Neurological Sciences Inc. 2018