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Obstructive hydrocephalusCommunicating HydrocephalusTraumatic BrainEpilepsyChildren with hydrocephalusHemorrhagePolymicrogyriaCauses hydrocephalusAbnormalitiesGeneticSeizuresCraniosynostosisMalformationPhelan-McDermidSymptomsDevelopmental delaysSpinalBuildupAcuteOcularDisorderInfantile SpasmsAutosomalVentricularIntracranialApertDiagnosisPatientsSevereDiseaseBleedsSpinaAngelman SyndromeDisordersCongenital rubellaBabiesChromosomeGaitNormal

Obstructive hydrocephalus1

• Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. (lu.se)

Communicating Hydrocephalus7

• A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation congenital communicating hydrocephalus and posterior fossa brain abnormalities including Dandy-Walker malformation cerebellar vermis agenesis and mega cisterna magna. (globalgenes.org)
• In communicating hydrocephalus (also referred to as nonobstructive hydrocephalus), full communication between the ventricles and subarachnoid space exists. (medscape.com)
• Impaired CSF absorption at the arachnoid villi, perhaps due to the presence of blood and other inflammatory mediators, may cause communicating hydrocephalus. (medscape.com)
• Normal pressure hydrocephalus (NPH), a form of communicating hydrocephalus, may result from subarachnoid hemorrhage caused by an aneurysm rupture or a TBI, encephalopathy, or Alzheimer disease . (medscape.com)
• Non-communicating hydrocephalus is where the blockage of cerebrospinal fluid (CSF) is at the level of the fluid spaces of the brain. (uclahealth.org)
• Communicating hydrocephalus where the blockage of CSF is at the surface of the brain. (uclahealth.org)
• Lumboperitoneal shunts are used in communicating hydrocephalus, especially if ventricles are small. (medscape.com)

Traumatic Brain1

• Posttraumatic hydrocephalus (PTH) is a frequent and serious complication that follows a traumatic brain injury (TBI). (medscape.com)

Epilepsy6

• We present 67 patients with early-onset shunted hydrocephalus and epilepsy, focusing on the prevalence of epileptic syndromes. (thieme-connect.de)
• Epilepsy with focal seizures only was seen in 13 patients and West syndrome in 12 patients, preceded by focal symptomatic epilepsies in six. (thieme-connect.de)
• Focal epilepsy and epileptic encephalopathies were the most frequent syndromes. (thieme-connect.de)
• West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram ( EEG ) pattern termed hypsarrhythmia, and mental retardation. (medscape.com)
• The term infantile spasm has been used to describe the seizure type, the epilepsy syndrome, or both. (medscape.com)
• West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram ( EEG ) pattern termed hypsarrhythmia, and mental retardation, although the diagnosis can be made even if 1 of the 3 elements is missing (according to the international classification). (medscape.com)

Children with hydrocephalus1

• If not treated, children with hydrocephalus can have learning disabilities or lose vision. (msdmanuals.com)

Hemorrhage2

• Hydrocephalus can be present at birth or be acquired later in life as a result of a tumor, head injury, meningitis or hemorrhage. (uclahealth.org)
• Lumbar punctures: In neonates recovering from intraventricular hemorrhage, serial lumbar punctures can, in some cases, resolve hydrocephalus. (medscape.com)

Polymicrogyria5

• Megalencephaly- polymicrogyria -polydactyly-hydrocephalus (MPPH) syndrome is a rare disorder that primarily affects the development of the brain. (medlineplus.gov)
• MPPH syndrome is also associated with a brain abnormality called bilateral perisylvian polymicrogyria (BPP). (medlineplus.gov)
• Xu, R. Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome. (encyclopedia.pub)
• Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome" Encyclopedia , https://encyclopedia.pub/entry/3851 (accessed December 04, 2023). (encyclopedia.pub)
• Megalencephaly, polymicrogyria, polydactyly and hydrocephalus (MPPH) syndrome: a new case with occipital encephalocele and cleft palate: The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. (yyu.edu.tr)

Causes hydrocephalus1

• What causes hydrocephalus? (uclahealth.org)

Abnormalities7

• Other brain abnormalities, including a buildup of fluid in the brain (hydrocephalus), have also been reported in people with MPPH syndrome. (medlineplus.gov)
• The brain abnormalities characteristic of MPPH syndrome are also found in a closely related condition called megalencephaly-capillary malformation syndrome (MCAP). (medlineplus.gov)
• However, MCAP includes abnormalities of small blood vessels in the skin (capillary malformations) and several other features that are not usually part of MPPH syndrome. (encyclopedia.pub)
• Eleven patients had epileptic encephalopathy with continuous spikes and waves during slow sleep, preceded by focal electroencephalography abnormalities in all and by West syndrome in one. (thieme-connect.de)
• Müller-Vahl KR, Kaufmann J, Grosskreutz J, Dengler R, Emrich HM, Peschel T. Prefrontal and anterior cingulate cortex abnormalities in Tourette Syndrome: evidence from voxel-based morphometry and magnetization transfer imaging. (medscape.com)
• From a systematic review of previously published cases to date, ocular abnormalities are present in more than half of patients with the syndrome. (hindawi.com)
• This categorization of NAA10 -related syndrome also includes Lenz microphthalmia syndrome (MIM#309800), a disorder also caused by pathogenic variants in the NAA10 gene which is characterized by abnormalities of the skeletal and urinary systems, teeth, ears, digits, and several ocular defects that may include unilateral or bilateral microphthalmia/anophthalmia, cataracts, nystagmus, coloboma, and glaucoma [ 3 ]. (hindawi.com)

Genetic12

• Thoracic dysplasia-hydrocephalus syndrome is a rare autosomal recessive genetic disorder characterized by shortening of the ribs, narrowing of the chest, mild shortening of the limbs (rhizomelia), hydrocephalus, and variable developmental delays. (wikipedia.org)
• It is thought that congenital hydrocephalus can be caused by genetic defects that can be passed from one or both parents to a child, but the direct links to hereditary disorders are still being investigated. (uclahealth.org)
• However, experts have found a connection between a rare genetic disorder called L1 syndrome and hydrocephalus. (uclahealth.org)
• Apert syndrome is a genetic disorder that causes abnormal head and face growth, as well as fused fingers and toes. (childrens.com)
• Apert syndrome is a genetic disorder in which certain skull bones fuse together prematurely, which is known as craniosynostosis . (childrens.com)
• Apert syndrome is genetic. (childrens.com)
• Angelman syndrome is a genetic condition that affects the nervous system. (floridahealth.gov)
• Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. (floridahealth.gov)
• However, in persons with West syndrome or hydrocephalus, it might be impossible to unravel whether CVI is caused by the seizure disorder or increased intracranial pressure or by the underlying disorder (that in itself can be acquired or genetic). (medscape.com)
• In 66 patients (21%) a genetic diagnosis was obtained, of which 38 (12%) had other possible risk factor (acquired, preterm birth, West syndrome or hydrocephalus), making differentiation between acquired and genetic not possible. (medscape.com)
• CVI was identified for the first time in several genetic syndromes, such as ATR-X, Mowat-Wilson, and Pitt Hopkins syndrome. (medscape.com)
• We conclude that CVI can be part of a genetic syndrome and that abnormal ocular findings are present more frequently in acquired forms of CVI. (medscape.com)

Seizures2

• West syndrome evolved into focal seizures in seven. (thieme-connect.de)
• The International League Against Epilepsy's (ILAE) revised classification and terminology of seizures and epilepsies, published in 2010, designates West syndrome as an electroclinical syndrome with onset in infancy, and epileptic spasms as a type of seizure. (medscape.com)

Craniosynostosis2

• 2 Over 100 syndromes with craniosynostosis have been described, 3, 4 and these include the autosomal dominant syndromes of Apert, Crouzon, Pfeiffer, and Saethre-Chotzen. (bmj.com)
• An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). (nih.gov)

Malformation3

• These patients are also at risk for developing Chiari malformation, however their risk is lower than that of patients with Crouzon or Pfeiffer syndromes. (childrens.com)
• Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? (genomeweb.com)
• Macroencephaly is a congenital malformation in which expansion of the brain usually results from a variety of disorders, including hydrocephalus. (britannica.com)

Phelan-McDermid1

• Phelan-McDermid Syndrome. (ossweb.com)

Symptoms6

• The patients present with a plethora of inflammatory clinical symptoms, often with overlap of hematologic, dermatologic, and rheumatologic syndromes . (nih.gov)
• A syndrome is a group of symptoms that don't have a definitive diagnosis. (healthline.com)
• When Do Symptoms of Cole-Carpenter syndrome Begin? (nih.gov)
• What are the signs and symptoms of Pediatric Apert Syndrome? (childrens.com)
• What are the symptoms of hydrocephalus? (msdmanuals.com)
• The symptoms of hydrocephalus depend on where and how much fluid there is. (msdmanuals.com)

Developmental delays2

• Children with Apert syndrome can have various degrees of learning problems and developmental delays. (childrens.com)
• Angelman syndrome usually isn't detected until developmental delays become noticeable. (floridahealth.gov)

Spinal1

• CM is associated with and can cause other neurological conditions, including hydrocephalus (an excessive buildup of CSF in the brain), spina bifida (the incomplete closing of the backbone and membranes around the spinal cord), syringomyelia (a CSF-filled cyst known as a syrinx in the spinal cord), and tethered cord syndrome (in which the spinal cord movement is restricted by the tissue around the bottom of the spine). (nih.gov)

Buildup1

• In small children and infants, hydrocephalus can affect the head by increasing its size to accommodate the excess fluid buildup. (uclahealth.org)

Acute1

• CT scanning is adequate to diagnose acute bleeds and ventriculomegaly (hydrocephalus). (medscape.com)

Ocular4

• Ocular manifestations of the NAA10 -related syndrome are not uncommon, although they have not been well characterized in literature reports. (hindawi.com)
• We speculate that the type and severity of ocular defects present in individuals with the NAA10 -related syndrome are dependent on the specific NAA10 pathogenic variant involved. (hindawi.com)
• Ocular manifestations of the NAA10 -related syndrome have not been well characterized in the literature. (hindawi.com)
• In this report, we summarize the ocular features of the syndrome from a systematic review of the literature and additionally present a young female with the syndrome who initially presented with growth restriction, failure to thrive, and hypotonia. (hindawi.com)

Disorder4

• Apert syndrome can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is all that is needed to cause the disorder. (childrens.com)
• However, new mutations in the gene usually cause most cases of Apert syndrome, and happen in babies with no family history of the disorder. (childrens.com)
• Ogden syndrome (MIM #300855) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants of the NAA10 gene located at Xq28 [ 1 ]. (hindawi.com)
• Temple syndrome (TS) is an imprinting disorder that was first described by Temple et al in 1991 in a report of a male aged 18 years with maternal uniparental disomy of chromosome 14. (bmj.com)

Infantile Spasms2

• West syndrome is an age-dependent expression of a damaged brain, and most patients with infantile spasms have some degree of developmental delay. (medscape.com)
• Patients are diagnosed with symptomatic infantile spasms if an identifiable factor is responsible for the syndrome. (medscape.com)

Autosomal1

• Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)

Ventricular3

• Previous neuropathologic studies in chronic hydrocephalus have suggested the presence of white matter damage, presumably from mechanical pressure due to ventricular enlargement and metabolic derangement. (ajnr.org)
• Hydrocephalus ( 7 ), increased ventricular size ( 8 ), and cognitive impairment ( 9 ) have also been noted in some persons with schizophrenia and other forms of psychosis. (cdc.gov)
• MRI at age 3 showed ventricular prominence without hydrocephalus and diminutive geni and corpus callosum. (hindawi.com)

Intracranial1

• PTH may present similarly to normal pressure hydrocephalus (NPH) or as a syndrome of increased intracranial pressure. (medscape.com)

Apert4

• About one in 100,000 babies are born with Apert syndrome. (childrens.com)
• Patients with Apert syndrome have varying degrees of webbed or fused fingers and toes ( Syndactyly ). (childrens.com)
• Patients with Apert syndrome are at a high risk for hydrocephalus . (childrens.com)
• Mutations in the FGFR2 gene cause Apert syndrome. (childrens.com)

Diagnosis3

• The patient's clinical syndrome narrows the differential diagnosis. (medscape.com)
• We propose the use of the name 'Temple syndrome' for this condition and suggest that improved diagnosis and long-term monitoring, especially of growth and cardiovascular risk factors, is required. (bmj.com)
• A rare syndrome in the differential diagnosis of hepatosplenomegaly and pancytopenia: report of identical twins with Griscelli disease. (lu.se)

Patients3

• Four patients presented with Lennox-Gastaut syndrome, of whom three had had West syndrome in the first year of life. (thieme-connect.de)
• A recent meta-analysis suggested that endoscopic 3-dimensional ventriculostomy was more beneficial than a shunt procedure in patients with a noncommunicating hydrocephalus. (medscape.com)
• West syndrome and/or hydrocephalus was identified in 21 patients (7%), and in 17 patients (6%) both an acquired cause and West and/or hydrocephalus was present. (medscape.com)

Severe3

• People with MPPH syndrome have delayed development and intellectual disability that ranges from mild to severe. (medlineplus.gov)
• The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and facial dysmorphism. (yyu.edu.tr)
• One of the most severe is Klippel-Trenone syndrome. (zp.ua)

Disease4

• MPPH syndrome appears to be a rare disease. (medlineplus.gov)
• Glatopa is indicated for the treatment of relapsing forms of multiple sclerosis (MS), to include clinically isolated syndrome, relapsing-remitting disease, and active secondary progressive disease, in adults. (rxlist.com)
• The VEXAS syndrome is a recently identified autoinflammatory systemic disease. (nih.gov)
• Dementia is a syndrome, not a disease. (healthline.com)

Bleeds1

• The most common causes of pediatric hydrocephalus in children in the United States are brain bleeds as a result of prematurity, spina bifida, brain tumors, infection and head injury. (uclahealth.org)

Spina1

• Congenital hydrocephalus can occur in isolation or may be associated with other conditions such as spina bifida or Dandy Walker syndrome. (uclahealth.org)

Angelman Syndrome1

• Angelman Syndrome. (ossweb.com)

Disorders1

• About one-third of individuals with F ragile X syndrome have features of Autism Spectrum disorders that affect communication and social interaction. (floridahealth.gov)

Congenital rubella2

• This statement summarizes the goals and current strategies for measles, rubella, and congenital rubella syndrome (CRS) elimination and for mumps reduction in the United States. (cdc.gov)
• U.S. Public Health Service year 2000 objectives include eliminating measles, rubella, and congenital rubella syndrome, and reducing mumps incidence to less than 500 reported cases per year. (cdc.gov)

Babies2

• Babies with Down syndrome have an extra copy of chromosome 21. (floridahealth.gov)
• Babies can be born with hydrocephalus, or it can happen after birth. (msdmanuals.com)

Chromosome2

• Chromosome 18 q- Syndrome. (ossweb.com)
• Down Syndrome is a condition in which a person is born with an extra chromosome. (floridahealth.gov)

Gait1

• iNPH is a syndrome characterized by the triad of gait disturbance, urinary incontinence, and cognitive decline in the absence of elevated CSF pressure. (ajnr.org)

Normal1

• Hydrocephalus has no cure, but there are treatments that allow those affected to lead fairly normal lives with the condition. (uclahealth.org)