Late onset X-linked hydrocephalus with normal cerebrospinal fluid pressure

A family with X-linked hydrocephalus with normal cerebrospinal fluid (CSF) pressure and in which three brothers and a grandson of case 11 a proband, w ere affected is reported. The symptoms at onset were epileptic attacks that started in adulthood in the three brothers and at the age of 6 years in th e grandson. In the three brothers, from 10 to 27 years after the onset of e pileptic episodes, disorganization of intelligence and psychiatric deterior ation were gradually noticed by their families. At the same time, they show ed occasional urinary incontinence. Brain computed tomography (CT) scans re vealed dilatation of the ventricular systems. Based on the results of the m easurement of CSF pressure and radioactive-iodinated human serum albumin (R ISA)-cysternography, two of the brothers were diagnosed as having normal pr essure hydrocephalus (NPH), and they were treated neurosurgically. However, no obvious improvement in clinical symptoms was observed. Although the gra ndson had shown normal psychomotor development during his early childhood, temporal epilepsy and temper tantrums started at the age of 6 years. Comput ed tomography-scanning revealed dilatation of the ventricular system simila r to the other three cases at the age of 8 years. With the diagnosis of NPH , the patient underwent a shunt operation, which resulted in no obvious eff ects. As it is reasonable to surmise that the pathological gene would have been transferred via the daughter of the proband to the grandson, it is sug gested that the inheritance manner might be X-linked recessive. The cases p resented here are different from the cases of hydrocephalus due to stenosis of the aqueduct Sylvius (HSAS) and other types of X-linked hydrocephalus r eported previously in terms of the age of onset, course? symptoms, and CT f indings. Thus, it is suggested that the present cases might be a new type o f X-linked hydrocephalus.