Disease relevance of Hydrocephalus

• X-linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28 [1].
• Secondary long-term outcomes were hydrocephalus necessitating the placement of a shunt, seizure disorder, and microcephaly within the same time frame [2].
• L1CAM, therefore, harbours mutations leading to either MASA syndrome or HSAS, and might be frequently implicated in X-linked mental retardation with or without hydrocephalus [3].
• Clinical symptoms of HSAS include hydrocephalus, mental retardation, clasped thumbs, and spastic paraparesis [4].
• Glasgow Coma Scale score, age, time from thrombolysis to symptoms of intracranial hemorrhage, hydrocephalus, herniation, mass effect, intraventricular extension, and volume and location of intracranial hemorrhage were significant univariable predictors [5].

Psychiatry related information on Hydrocephalus

• A locus for X-linked hydrocephalus (HSAS), which is characterized by mental retardation and enlarged brain ventricles, maps to the same subchromosomal region (Xq28) as the gene for neural cell adhesion molecule L1 [6].
• Patterns of performance seen with specific instances of neurotoxic exposure may also be seen with a number of other diseases of the CNS such as dementia, cerebrovascular disease, hydrocephalus, or normal aging [7].
• Monoamine metabolites, cholinesterases and lactic acid in lumbar cerebrospinal fluid (CSF) were investigated on patients with the adult hydrocephalus syndrome (idiopathic normal pressure syndrome; AHS, n = 15), Alzheimer's disease (AD, n = 14), multi-infarct dementia (MID, n = 13) and controls (n = 21) [8].
• We studied motor adaptation in 17 children with myelomeningocele and shunted hydrocephalus, 19 children with attention deficit/hyperactivity disorder (ADHD), and 20 healthy siblings [9].
• We present the clinical cases and discuss the possible connection between early hydrocephalus and epilepsy, especially continuous spike wave in slow-wave sleep [10].

High impact information on Hydrocephalus

• The human Mf1 homolog FREAC3 is a candidate gene for ocular dysgenesis and glaucoma mapping to chromosome 6p25-pter, and deletions of this region are associated with multiple developmental disorders, including hydrocephaly and eye defects [11].
• We have previously shown that X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glycoprotein involved in neuronal migration and differentiation [1].
• The easily accomplished recognition of a possible associated hydrocephalus is an added advantage of ACTA-scanning [12].
• Permanent neurological sequelae, including deafness, mental retardation, and persisting seizures, developed in the six given ampicillin; communic-ting hydrocephalus occurred in one who had been treated with streptomycin and sulfisoxazole [13].
• Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus [14].

Chemical compound and disease context of Hydrocephalus

• Letter: Polydipsia and inappropriate secretion of antidiuretic hormone associated with hydrocephalus [15].
• A 28-year-old man with chronic hydrocephalus due to aqueductal stenosis was found to have a subnormal response of growth hormone to arginine infusion [16].
• Three distinct metrizamide CT cisternographic patterns (delayed, intermediate, and normal) emerge in pediatric patients with hydrocephalus [17].
• 3-methoxy-4-hydroxyphenylglycol (MHPG), the primary brain metabolite of norepinephrine (NE), was measured in ventricular fluid from 51 patients with dystonia, other movement disorders, or hydrocephalus [18].
• Magnetic resonance imaging of her head showed gadolinium enhancement of the fifth cranial nerve bilaterally and a communicating hydrocephalus [19].

Biological context of Hydrocephalus

• Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual families [20].
• BACKGROUND: Neurocysticercosis, occasionally associated with long-term neurologic sequelae such as epilepsy or hydrocephalus, is more often a condition characterized by a benign course and spontaneous remission without permanent neurologic symptoms [21].
• Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders [22].
• We have analysed the data from 71 published cases and seven patients whose mutations were detected in our laboratory to determine if the site of a missense mutation in the Ig or FN domains correlated with the severity of hydrocephalus, presence of adducted thumbs, or survival past infancy [23].
• Genetic heterogeneity for this disorder was suggested following the description of a single large pedigree where X linked hydrocephalus showed lack of linkage to Xq28 markers flanking the L1 gene [24].

Anatomical context of Hydrocephalus

• This spectrum includes X-linked hydrocephalus, MASA syndrome, X-linked complicated spastic paraplegia type 1 and X-linked agenesis of the corpus callosum [25].
• The finding that communicating hydrocephalus occurs early in meningitis and interferes with CSF flow into infected basilar regions has important therapeutic implications in that antifungal agents injected into the lumbar subarachnoid space may not reach these regions [26].
• The molecular forms of the N-terminal fragment (hNT) of proopiomelanocortin were studied in cerebrospinal fluid (CSF) from normal subjects, methadone-addicted patients, patients with hydrocephalus, and a patient with Nelson's syndrome [27].
• Ependymal denudation, aqueductal obliteration and hydrocephalus after a single injection of neuraminidase into the lateral ventricle of adult rats [28].
• These dimensions were demonstrated to be abnormally increased in posterior fossa arachnoid cysts, Dandy-Walker syndrome, and hydrocephalus [29].

Gene context of Hydrocephalus

• Foxc1/Mf1 is disrupted in the mutant, congenital hydrocephalus (Foxc1/Mf1(ch)), which has multiple developmental defects [30].
• VEGF and TGF-beta1 was studied in the cerebrospinal fluid (CSF) of neonates with posthemorrhagic hydrocephalus (PHHC) and nonhemorrhagic hydrocephalus [31].
• Interspecific backcross mapping located Edn1 in the central region of chromosomal 13, where a mouse mutation, congenital hydrocephalus (ch), is also mapped [32].
• Exencephaly and hydrocephaly in mice with targeted modification of the apolipoprotein B (Apob) gene [33].
• In anencephaly and hydrocephaly with spina bifida, AFP was markedly elevated and ET were very low, but in simple hydrocephalus, very low AFP was found [34].

Analytical, diagnostic and therapeutic context of Hydrocephalus

• Two infants with hydrocephalus treated by ventriculoperitoneal shunt were also simultaneously evaluated for plasma and CSF theophylline concentrations [35].
• TGF-beta1 was measured by enzyme-linked immunosorbant assay (ELISA) in sequential samples of cerebrospinal fluid (CSF) in 11 patients with hydrocephalus after SAH; levels were seen to be biphasically elevated and sources were investigated [36].
• Patients with occlusive hydrocephalus caused by cerebrovascular diseases, who had undergone external ventriculostomy (n = 10, age range 48 to 75 years), received 2 g of meropenem intravenously over 30 min [37].
• Intraspinal arachnoiditis and hydrocephalus after lumbar myelography using methylglucamine iocarmate [38].
• The CSF pressure was monitored through a lumbar cannula because of suspected adult hydrocephalus [39].

References