Late onset X-linked hydrocephalus with normal cerebrospinal fluid pressure

Autor:	Taihei Miyakawa, Kazuhiro Teraoka, Shoichi Katsuragi, Koichiro Amano, Koko Ishizuka, Ken Ikegami, Kensho Yamashita
Rok vydání:	2000
Předmět:	Proband Adult Male Pediatrics medicine.medical_specialty X Chromosome Adolescent Genetic Linkage Late onset Constriction Pathologic Ventricular system Epilepsy Normal pressure hydrocephalus Cerebrospinal Fluid Pressure medicine Pressure Humans Serum Albumin Radio-Iodinated Cerebral Ventriculography Child Aged business.industry General Neuroscience Cerebral Aqueduct Brain General Medicine Middle Aged medicine.disease Magnetic Resonance Imaging Hydrocephalus Normal Pressure Hydrocephalus Surgery Pedigree Psychiatry and Mental health Stenosis Neurology Female Neurology (clinical) Age of onset Radiopharmaceuticals business Tomography X-Ray Computed Dilatation Pathologic
Zdroj:	Psychiatry and clinical neurosciences. 54(4)
ISSN:	1323-1316
Popis:	A family with X-linked hydrocephalus with normal cerebrospinal fluid (CSF) pressure and in which three brothers and a grandson of case 1, a proband, were 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 the grandson. In the three brothers, from 10 to 27 years after the onset of epileptic episodes, disorganization of intelligence and psychiatric deterioration were gradually noticed by their families. At the same time, they showed occasional urinary incontinence. Brain computed tomography (CT) scans revealed dilatation of the ventricular systems. Based on the results of the measurement of CSF pressure and radioactive-iodinated human serum albumin (RISA)-cysternography, two of the brothers were diagnosed as having normal pressure hydrocephalus (NPH), and they were treated neurosurgically. However, no obvious improvement in clinical symptoms was observed. Although the grandson had shown normal psychomotor development during his early childhood, temporal epilepsy and temper tantrums started at the age of 6 years. Computed tomography-scanning revealed dilatation of the ventricular system similar 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 effects. 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 suggested that the inheritance manner might be X-linked recessive. The cases presented here are different from the cases of hydrocephalus due to stenosis of the aqueduct Sylvius (HSAS) and other types of X-linked hydrocephalus reported previously in terms of the age of onset, course, symptoms, and CT findings. Thus, it is suggested that the present cases might be a new type of X-linked hydrocephalus.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f0e8a07e36f47da83a189686a9c8a9 https://pubmed.ncbi.nlm.nih.gov/10997867 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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