Ventriculomegaly: Causes & Reasons

Possible Causes for Ventriculomegaly

Abnormality of the nervous system Cerebral cortical atrophy Hypoplasia of the corpus callosum Intellectual disability, profound Polymicrogyria Seizure Spastic tetraplegia Ventriculomegaly [ncbi.nlm.nih.gov]

Polymicrogyria ; Postnatal growth retardation ; Postnatal microcephaly ; Scrotal hypoplasia ; Seizures ; Shallow anterior chamber ; Short nose ; Spastic tetraplegia ; Ventriculomegaly [mousephenotype.org]

His magnetic resonance imaging (MRI) showed right frontal pachygyria, right ventriculomegaly, and hypoplasia of corpus callosum, with normal myelination for age [Figure 1] [ncbi.nlm.nih.gov]

Kohlschütter-Tönz Syndrome

[…] abnormal interictal pattern, consisting of high amplitude and irregular waves and spikes with chaotic and disorganized background activity seen on electroencephalogram), and ventriculomegaly [xpertdox.com]

Hypsarrhythmia 0002521 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Variable expressivity 0003828 Ventriculomegaly [rarediseases.info.nih.gov]

3q13.31 Microdeletion Syndrome

ADHD and ventriculomegaly were previously described in patients with del3q13.31 (OMIM 615433) but Dandy-Walker variant was observed in our patient for the first time. [cambridge.org]

[…] syndrome (psychomotor and speech development delay, autistic signs, aggression, sleep alteration, seizures) and atypical – attention deficit-hyperactivity disorder (ADHD), ventriculomegaly [cambridge.org]

Muscular Dystrophy-Dystroglycanopathy Type A13

[…] callosum, agenesis of Cortical dysplasia Global developmental delay Gray matter heterotopia Hydrocephalus Hypoplasia of the brainstem Occipital encephalocele Seizure Spasticity Ventriculomegaly [ncbi.nlm.nih.gov]

Ventriculomegaly MedGen UID: 480553 •Concept ID: C3278923 • Finding An increase in size of the ventricular system of the brain. [ncbi.nlm.nih.gov]

Ventriculomegaly with Defects of the Radius and Kidney

Published on 05-Jun-2016 View 213 Download 1 Transcript Ventriculomegaly With Radial and Renal Defects:Prenatal Diagnosis in Two Consecutive SibsTamas Kovacs,1 Karoly Csecsei [documents.tips]

Abstract We describe two consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe ventriculomegaly [ncbi.nlm.nih.gov]

Fetal Cerebral; Ventriculomegaly, Cerebral; Ventriculomegalies, Fetal Cerebral; Ventriculomegalies, Cerebral; Stenosis, Aqueductal; Post Traumatic Hydrocephalus; Hydrocephalus [reference.md]

Ventriculomegaly-Cystic Kidney Disease

Of the 21,988 total births in the hospital, two children were born with cystic kidney disease and ventriculomegaly. [cags.org.ae]

[…] type I (Ventriculomegaly) Acromelic frontonasal dysostosis (Ventriculomegaly) Adams-Oliver syndrome (Ventriculomegaly) Adducted thumbs Dundar type (Ventriculomegaly) Agenesis [familydiagnosis.com]

Ventriculomegaly with cystic kidney disease (CRB2) DNA Test Leave Message Reporting Time: 5 Week Test Cost: 19000.00 /- Rs Sample Type: EDTA blood or DNA Ventriculomegaly [dnalabsindia.com]

Muscular Dystrophy-Dystroglycanopathy Type A6

Muscular dystrophy Severe muscular hypotonia Abnormality of the nervous system Areflexia Cobblestone lissencephaly Hydrocephalus Hypoplasia of the pons Intellectual disability Ventriculomegaly [ncbi.nlm.nih.gov]

Ventriculomegaly MedGen UID: 480553 •Concept ID: C3278923 • Finding An increase in size of the ventricular system of the brain. [ncbi.nlm.nih.gov]

Ventriculomegaly and hypodensities of the white matter can also be observed. Visual evoked potentials are delayed and giant (> 50 µv) in most patients. [tellmegen.com]

Muscular Dystrophy-Dystroglycanopathy Type A5

Ventriculomegaly MedGen UID: 480553 •Concept ID: C3278923 • Finding An increase in size of the ventricular system of the brain. [ncbi.nlm.nih.gov]

Hypoplasia of the brainstem Hypoplasia of the pons Hyporeflexia Intellectual disability, profound Joubert syndrome Lissencephaly Motor delay Pachygyria Simplified gyral pattern Ventriculomegaly [ncbi.nlm.nih.gov]

Lissencephaly 6 with Microcephaly

Microlissencephaly Motor delay Pachygyria Partial agenesis of the corpus callosum Periventricular gray matter heterotopia Polymicrogyria Seizure Simplified gyral pattern Spasticity Ventriculomegaly [ncbi.nlm.nih.gov]

Other reported brain abnormalities included intracranial calcifications, corpus callosum abnormalities, abnormal cortical formation, cerebral atrophy, ventriculomegaly, hydrocephaly [raredr.com]

There was associated agenesis of corpus callosum, ventriculomegaly and fourth ventricle communicating with posterior fossa cyst suggestive of Dandy-Walker malformation. [webmedcentral.com]

Muscular Dystrophy-Dystroglycanopathy Type A1

Cerebral abnormalities include ventriculomegaly, encephalocele, and Dandy-Walker malformation. [radiologykey.com]

A further ultrasound examination showed worsening ventriculomegaly of 23mm and anterior ventriculomegaly. [bmus.org]

At 21st week we found ventriculomegaly of the lateral cerebral ventricles (13 mm), hypoplasia of the cerebellar vermis, posterior fossa cyst (Dandy-Walker complex), and agyria [thefetus.net]

Bilateral Temporo-Occipital Polymicrogyria

Affiliated tissues include brain, and related phenotypes are ventriculomegaly and aggressive behavior [malacards.org]

Imported from Human Phenotype Ontology (HPO) Abnormality of the nervous system Aggressive behavior Focal seizures with impairment of consciousness or awareness Polymicrogyria Ventriculomegaly [familydiagnosis.com]

MedlinePlus Genetics] Show allHide all Abnormality of the nervous system Aggressive behavior Delirium Focal impaired awareness seizure Polymicrogyria Seizure Status epilepticus Ventriculomegaly [ncbi.nlm.nih.gov]

IFAP Syndrome with or without BRESHEK Syndrome

Ventriculomegaly MedGen UID: 480553 •Concept ID: C3278923 • Finding An increase in size of the ventricular system of the brain. [ncbi.nlm.nih.gov]

Aganglionic megacolon Brain atrophy Global developmental delay Hypoplasia of the corpus callosum Intellectual disability Olivopontocerebellar atrophy Photophobia Seizure Ventriculomegaly [ncbi.nlm.nih.gov]

Muscular Dystrophy-Dystroglycanopathy Type A3

Foetal ventriculomegaly was diagnosed at 32 weeks of gestation, and the mother was referred to the Department of Obstetrics and Gynecology at Takatsuki General Hospital in [karger.com]

CNS malformations include absent laminar structure agyria/pachygyria, ventriculomegaly, cerebellar dysplasia, encephalocele, Dandy-Walker cyst, hydrocephalus [4-7]. [fortunejournals.com]

Prenat Diagn 27(6):568–572 PubMed Google Scholar Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L (2020) Prenatal genetic considerations in congenital ventriculomegaly [jmhg.springeropen.com]

Lissencephaly due to TUBA1A Mutation

The anterior limb of the internal capsule was small, the corpus callosum was thin and there was severe ventriculomegaly. The sylvian fissure was verticalised. [researchportal.vub.be]

Case 1, a 23-year-old boy, was found to have a brain malformation with moderate ventriculomegaly prenatally. Hypotonia was noted at birth. [mdpi.com]

Mutations in the tubulin genes typically affect patients with complex malformations of cortical, commissural and posterior fossa and varying degrees of ventriculomegaly [6 [mdpi.com]

Perinatal Lethal Gaucher Disease

[…] neurologic deterioration ; Respiratory distress ; Retrognathia ; Seizures ; Short nose ; Splenomegaly ; Strabismus ; Thoracic hypoplasia ; Thrombocytopenia ; Triangular face ; Ventriculomegaly [mousephenotype.org]

] 0000486 Thoracic hypoplasia Small chest Small thorax [ more ] 0005257 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 Ventriculomegaly [rarediseases.info.nih.gov]

[…] encephalopathy Bulbar signs Abnormal pattern of respiration Abnormality of the periventricular white matter Frequent falls Hypertelorism Epicanthus High palate Rapidly progressive Ventriculomegaly [mendelian.co]

Mucopolysaccharidosis Type 3

C, Coronal T2 image shows hyperintensities in periventricular white matter ( arrows ) and perioptic spaces ( arrowheads ), ventriculomegaly, and brain atrophy. [ajnr.org]

Radiology (2018) Quantitative neuroimaging in mucopolysaccharidoses clinical trials Igor Nestrasil & Leonardo Vedolin Molecular Genetics and Metabolism (2017) Regression of ventriculomegaly [nature.com]

MR imaging of the brain showed periventricular white matter hyperintensities ( Fig 1 A–C ), enlarged Virchow-Robin spaces ( Fig 1 A, -B ), ventriculomegaly, and atrophy [ajnr.org]

Mucopolysaccharidosis Type 7

[…] resonance imaging (MRI) scans and at autopsy include neurodegenerative changes in white matter, the corpus callosum and basal ganglia; enlargement of periventricular spaces; ventriculomegaly [touchneurology.com]

It was noted that the most prominent brain features identified in almost all types of mucopolysaccharidosis were white and gray matter changes, ventriculomegaly and hydrocephalus [surgicalneurologyint.com]

[…] of the iliac bones and flared iliac wings, and squat femurs were seen (Fig. 2); brain magnetic resonance imaging (MRI) showed enlargement of the subarachnoid spaces and ventriculomegaly [ijponline.biomedcentral.com]

Mucopolysaccharidosis Type 2

C, Coronal T2 image shows hyperintensities in periventricular white matter (arrows) and perioptic spaces (arrowheads), ventriculomegaly, and brain atrophy. [ajnr.org]

[…] scans, other studies have found no such correlation. 27,29 Indeed, patients having the non-neuronopathic phenotype have been reported to have extensive neural atrophy and ventriculomegaly [touchneurology.com]

Mucopolysaccharidosis Type 1

Manara et al22 recently showed that all patients with Hunter syndrome in their study had ventriculomegaly. [ajnr.org]

Communicating hydrocephalus may occur without ventriculomegaly, due to the thickened arachnoid membrane. [medicalhomeportal.org]

Molybdenum Cofactor Deficiency Type B

[…] molybdoflavoprotein enzyme deficiency Hypouricemia Xanthinuria Opisthotonus Spastic tetraplegia Nervous System Disorders Axonal loss Brain atrophy Gliosis Peripheral demyelination Ventriculomegaly [familydiagnosis.com]

Bannayan-Riley-Ruvalcaba syndrome 153480 Cowden syndrome 1 158350 Lhermitte-Duclos syndrome 158350 Macrocephaly/autism syndrome 605309 VATER association with macrocephaly and ventriculomegaly [institutobernabeu.com]

Mulibrey Nanism Syndrome

Hypoplastic frontal sinuses Microglossia Muscular hypotonia Myocardial fibrosis Nephroblastoma Nevus Pericardial constriction Pigmentary retinopathy Strabismus Triangular face Ventriculomegaly [dovemed.com]

[…] retinopathy 0000580 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 Ventriculomegaly [rarediseases.info.nih.gov]

[…] disease, type 2; 607636; LRP5 van der Woude syndrome; 119300; IRF6 Vasculopathy, retinal, with cerebral leukodystrophy; 192315; TREX1 VATER association with macrocephaly and ventriculomegaly [howlingpixel.com]

Muscular Dystrophy-Dystroglycanopathy Type A2

Antenatal MRIs at 25 and 35 weeks’ gestation showed posterior ventriculomegaly but no cortical dysplasia. [jamanetwork.com]

Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Type II lissencephaly 0007260 Uncontrolled eye movements 0007738 Undetectable electroretinogram 0000550 Ventriculomegaly [rarediseases.info.nih.gov]

COL6A2 Ullrich congenital muscular dystrophy type 1 COL6A3 Ullrich congenital muscular dystrophy type 2 COL12A1 Unverricht-Lundborg disease CSTB Urocanase deficiency UROC1 Ventriculomegaly [centogene.com]

Tenorio Syndrome

[…] cortical atrophy Cerebral palsy Clumsiness Delayed speech and language development Gait disturbance Hydrocephalus Intellectual disability Psychomotor retardation Seizures Ventriculomegaly [ncbi.nlm.nih.gov]

[…] related to Tenorio Syndrome; Tnors Intellectual disability Seizures Generalized hypotonia Scoliosis Delayed speech and language development Macrocephaly Gait disturbance Ventriculomegaly [mendelian.co]

Ventriculomegaly was found in all the infants and was rated as severe in the majority (53%) and involving only the lateral ventricles in 43%. [nejm.org]

Wolf-Hirschhorn Syndrome

The cranial ultrasound showed mild lateral ventriculomegaly whereas ultrasound abdomen was normal. [mjdrdypu.org]

[…] renal anomalies Magnetic resonance imaging (MRI) and computed tomography (CT) scanning - May reveal underlying brain pathology, including agenesis of the corpus callosum and ventriculomegaly [emedicine.medscape.com]

Hypotonia, feeding difficulties, and midline defects (ASD, cleft palate and a ventriculomegaly) were presented that support the diagnosis of WHS. [mjdrdypu.org]

Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert

[…] emotional lability 33 HP:0000712 4 seizures 33 HP:0001250 5 ataxia 33 HP:0001251 6 dysarthria 33 HP:0001260 7 visual field defect 33 HP:0001123 8 migraine 33 HP:0002076 9 ventriculomegaly [malacards.org]

[…] headaches [ more ] 0002076 Pseudobulbar signs 0002200 Seizures Seizure 0001250 Sporadic No previous family history 0003745 Telangiectases producing 'marbled' skin 0007586 Ventriculomegaly [rarediseases.info.nih.gov]

Ventriculomegaly MedGen UID: 480553 • Concept ID: C3278923 • Finding An increase in size of the ventricular system of the brain. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 6

Manara et al 22 recently showed that all patients with Hunter syndrome in their study had ventriculomegaly. [ajnr.org]

There is associated mild ventriculomegaly (*). Figure 2. Figure 3. MPS I in an 8-year-old girl. [pubs.rsna.org]

Lee et al 10 first observed that cribriform changes were inversely correlated with the gravity of WMA, cerebral atrophy, and ventriculomegaly. [ajnr.org]

Coffin-Lowry Syndrome

[…] skin folds Sagging, redundant skin [ more ] 0001582 Short distal phalanx of finger Short outermost finger bone 0009882 Short metacarpal Shortened long bone of hand 0010049 Ventriculomegaly [rarediseases.info.nih.gov]

Periventricular white matter abnormalities Constricted foramen magnum (decreased diameter) Reduced gray- and white-matter volume without evidence of ventriculomegaly ex vacuo [ncbi.nlm.nih.gov]

Aicardi-Goutières Syndrome Type 4

The presentation is usually in infancy but prenatal brain involvement has been infrequently described,4, 5, 6 including ventriculomegaly, intracerebral calcifications, cavitation [nature.com]

Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications. Eur J Pediatr. 1994;153:510–6. [ncbi.nlm.nih.gov]

Knobloch Syndrome Type 1

[…] sighted Severely near sighted [ more ] 0011003 Macular hypoplasia 0001104 Peripapillary atrophy 0500087 Phthisis bulbi 0000667 Polymicrogyria More grooves in brain 0002126 Ventriculomegaly [rarediseases.info.nih.gov]

Normal Pressure Hydrocephalus

There is ventriculomegaly without marked elevation in cerebrospinal fluid pressure. [bmj.com]

Brain MRI demonstrated ventriculomegaly and the hummingbird sign. A lumbar puncture showed no abnormalities of the cerebrospinal fluid. [ncbi.nlm.nih.gov]

The finding of DESH without neurologic symptoms has been termed asymptomatic ventriculomegaly with features of idiopathic normal pressure hydrocephalus on MRI (AVIM) 1. [radiopaedia.org]