Figure - available from: Child's Nervous System
This content is subject to copyright. Terms and conditions apply.
a Axial T2-weighted and b sagittal BFFE/FIESTA MRI demonstrating massive enlargement of the lateral ventricles causing marked stretching and thinning of the corpus callosum, inferior displacement of the tentorium with compression of the brainstem and cerebellar hemispheres secondary to congenital aqueductal stenosis. This patient underwent ventriculoperitoneal shunting for treatment. c Axial and d sagittal T2-weighted MRI showing complete agenesis of the corpus callosum with associated colpocephaly. This patient did not require surgical intervention. e Coronal and axial f T2-weighted MRI demonstrating diffusely abnormal supratentorial brain with porencephalic cysts in bilateral cerebral hemispheres. The cystic structure in the left middle cranial fossa represents a segregated porencephalic cyst. This patient underwent cystoperitoneal shunting due to progressive dilatation of the cyst. g Sagittal and h axial T1-weighted imaging showing partial separation of the frontal lobes with the anterior falx present with absent separation of the posterior bodies of the lateral ventricle with dorsal cyst formation. There is also a large CSF collection within the superior posterior fossa that appears to be in communication with the ventricles compatible with semilobar holoprosencephaly. Also noted on imaging is a small parietal cephalocele. i Axial and j sagittal T2-FSE MR images demostrating hydranencephaly treated with ventriculoperitoneal shunt and development of subdural collections secondary to overshunting. k Sagittal non-contrast T1-weighted MRI of the brain and spine showing a 14 cm cephalocele with moderately enlarged colpocphaly. This patient underwent repair of the cephalocele, with external ventricular drain placement and delayed shunt placement.
Source publication
Fetal ventriculomegaly refers to a condition in which there is enlargement of the ventricular spaces, typically on prenatal ultrasound. It can be associated with other CNS or extra-CNS abnormalities, and this relationship is crucial to understand as it affects overall neonatal outcome. Isolated ventriculomegaly has been described in the literature...
Similar publications
Introduction: Jarcho-Levin syndrome is a genetic skeletal disorder characterized by short-trunk dwarfism with vertebral and rib anomalies. The association with other organs such as the spinal, brain, and the urinary system has been reported. The paper reports a rare case of Jarcho-Levin syndrome associated with neural tube defects and other congeni...
Citations
... Aicardi syndrome, Kabuki syndrome, Smith-Lemli-Opitz syndrome). 23 Systemic findings included: hypertelorism, oral nodules, a natal tooth, and polydactyly (patient 2). ...
Hydrocephalus is rarely described in Joubert‐Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed. Records from an additional family were obtained from RG. The patients' medical records, prenatal ultrasounds, and magnetic resonance imaging were assessed. In addition, we reviewed the medical literature for the association of ventriculomegaly/hydrocephalus (VM/HC) in JBTS. Only seven cases (from five families) were found with prenatal onset of VM/HC, diagnosed during the second trimester; three pregnancies were terminated, one was stillborn and three were born, of which one died within a week, and another died at the age of 6 years. Additional central nervous system findings included dysgenesis of the corpus callosum, delayed sulcation, polymicrogyria, and pachygyria. We found 16 publications describing 54 patients with JBTS and VM/HC: only five were diagnosed at birth and three were diagnosed prenatally. Hydrocephalus is extremely rare in JBTS. The recurrence of this association, reported in several publications in multiple family members, suggests that it might represent a new phenotypic subtype of JBTS possibly associated with specific genes or variants. Further genetic studies are needed to confirm this hypothesis.
What this paper adds
The association of fetal hydrocephalus with Joubert‐Boltshauser syndrome (JBTS) is very rare but not a chance association.
This association represents a new phenotypic subtype of JBTS possibly linked to specific genes or variants.
... La estenosis del acueducto puede ser congénita (ligada a X por mutación de L1 CAM) o adquirida (ej. Gliosis por hemorragia) o por malformaciones del SNC (Romboencefalosinapsis) (12). ...
La ventriculomegalia fetal (VM) se define como un aumento de los diámetros de los ventrículos laterales mayor a 10 mm en un ultrasonido prenatal. Presenta una incidencia de 0,3 a 1,5 por cada 1000 nacimientos. El hallazgo ultrasonográfico generalmente ocurre durante la exploración en el segundo trimestre, asociado a malformaciones del sistema nervioso central (SNC), eventos disruptivos o síndromes genéticos. Clasificación en 1 o 2 maneras: leve (10-15 mm) o grave (>15 mm), ó leve (10-12 mm), moderada (13-15 mm) o grave (>15 mm). Paciente de 26 años, con un embarazo pretérmino, mal control prenatal, ingresó con trabajo de parto pretérmino. Signos vitales estables, feto único, vivo, ultrasonido obstétrico con reporte de VM bilateral severa. Se decidió comenzar protocolo para resolución de embarazo vía abdominal de urgencia, se obtuvo recién nacido del sexo masculino en paro cardiorrespiratorio, no se brindaron maniobras de reanimación neonatal. Este hallazgo es solo un paso previo para realizar durante el abordaje diagnóstico con el fin de reconocer la causa de la dilatación ventricular. Cuando no se encuentra ninguna causa, se define como "aislada", representando, por definición, una discriminación provisional de exclusión.
... Unlike the aetiology of intracranial haemorrhage and periventricular leukomalacia, two ultrasonographic abnormalities in preterm newborns that have been investigated extensively, the pathogenesis of ventriculomegaly is still not well-established. 6 Intracranial haemorrhage and ventriculomegaly were significant pathologies of seizures detected through transcranial ultrasound in preterm neonates. In such individuals, ventriculomegaly was also found to be an overlapping pathology with other intracranial pathologies like ICH and cerebral oedema. ...
This study aimed to determine the association of intracranial abnormalities through transcranial ultrasound in preterm neonates having seizures and to analyse them with preterm classes. It was a cross-sectional analytical study at the Radiology Department of Shalamar Hospital, Lahore. This study observed a total of 103 pretermers with a history of seizures through transcranial ultrasound. These pretermers were classified into three classes according to their gestational age. Abnormal cranial scans were found in 42 (40.8%) preterm infants, with ventriculomegaly and intracranial haemorrhage more common in 18.4% and 17.5% of neonates. The p-values for intracranial haemorrhage in classes I, II, and III were 0.016, 0.001, and <0.001, respectively, while ventriculomegaly in preterm classes II and III was 0.003 and <0.001, respectively. In all preterm categories, intracranial haemorrhage was found to be the most likely cause of seizures, which tended to increase with decreasing gestational age. However, ventriculomegaly was identified as a significant cause of seizures in preterm classes II and III but not in class I. Key Words: Cranial ultrasound, Preterm, Seizures.
... Infants transferred to the NICU may have some manifestations of brain injuries during early birth, which may have implications for their long-term neurodevelopment. Typically, VM's outcome depends on its cause and degree [21]. In 2018, SMFM (Society for Maternal-Fetal Medicine) pointed out that the likelihood of normal neurodevelopment for mild VM, especially the isolated VM, is more than 90%, while moderate VM is 75-93% [22]. ...
Birth defects have brought about major public health problems, and studying the clinical outcomes of the most common prenatal central nervous system abnormality, namely, fetal ventriculomegaly (VM), is helpful for improving reproductive health and fertility quality. This is a retrospective cohort study from 2011 to 2020 in the West China Second University Hospital, Sichuan University, aiming to evaluate the short-term and long-term outcomes of VM over 37 weeks’ gestation to exclude the influence of preterm birth. The study analyzed data from 401 term pregnancies, with 179 VM and 222 controls. From the short-term outcomes, the rate of the neonatal intensive care unit (NICU) admission under the VM group (10.06%) was comparatively higher than the control (0.45%), but Apgar scores between both groups at 1 min, 5 min and 10 min were not significantly different. From the long-term outcomes, there were more infants with abnormal neurodevelopment under the VM group than control (14.53% vs. 2.25%, p < 0.001). In addition, NICU admission (p = 0.006), peak width of lateral ventricles (p = 0.030) and postnatal cranial ultrasound suggestive with VM (p = 0.002) were related to infants’ long-term outcomes. NICU admission during the perinatal period was an independent risk factor for the adverse long-term outcomes (OR = 3.561, 95% CI 1.029–12.320, p = 0.045). In conclusion, VM impairs short-term and long-term outcomes of term infants. Short-term outcome, especially NICU admission, could predict their adverse long-term outcomes.
... Myelomeningocele can be associated with other congenital disorders such as hydrocephalus and Chiari II malformation which represent the challenging clinical manifestations that carry significant complications in MMC. Hydrocephalus involves any enlargement of the cerebral ventricles and occurs in more than 85% of patients with MMC (Patel et al., 2020). ...
... edges. 2 The reference ranges of lateral ventricle width were established by Cardoza et al 3 in 1988; they are consistent across gestations. The diameter (mean ± standard deviation) of the lateral ventricle is 7.6 ± 0.6 mm (range, [6][7][8][9]. Therefore, fetal cerebral ventriculomegaly is defined as dilation of the lateral ventricle atrium to a width of >10 mm (>4 standard deviations from the mean). ...
... Our findings were compatible with previous reports of fetal ventriculomegaly incidence, which has ranged from 0.3 to 3.8 per 1000 pregnancies. 7,8 While congenital infection screening was conducted in only 66.7% of our cases, no cases of intrauterine cytomegalovirus or toxoplasmosis infection were identified in our cohort. This is potentially because Chinese pregnant women have a high cytomegalovirus seroprevalence 9 but a low prevalence of toxoplasmosis, compared with Caucasian pregnant women. ...
Introduction:
This study investigated the incidences of chromosomal abnormalities and the neurological outcomes according to the degree of fetal cerebral ventriculomegaly.
Methods:
All women with antenatal ultrasound diagnosis of fetal cerebral ventriculomegaly were retrospectively identified from two maternal-fetal medicine units in Hong Kong from January 2014 to December 2018. Degrees of fetal ventriculomegaly were classified as mild (10-11.9 mm), moderate (12-14.9 mm), or severe (≥15 mm). Genetic investigation results were reviewed, including conventional karyotyping and chromosomal microarray analysis (CMA); correlations between chromosomal abnormalities and the degree of fetal ventriculomegaly were explored. The neurological outcomes of subsequent live births were analysed to identify factors associated with developmental delay.
Results:
Of 84 cases (ie, pregnant women and their fetuses) included, 46 (54.8%) exhibited isolated fetal ventriculomegaly, 55 (65.5%) had mild cerebral ventriculomegaly, and 29 (34.5%) had moderate or severe cerebral ventriculomegaly. Overall, 20% (14/70) of cases had chromosomal abnormalities. Moreover, 12% (3/25) of mild isolated ventriculomegaly cases had abnormal karyotype or CMA results. The CMA provided an incremental diagnostic yield of 8.6% (6/70), compared with conventional karyotyping; 4.3% exhibited pathogenic variants and 4.3% exhibited variants of uncertain significance. Among the 53 live births in the cohort, fewer cases of mild isolated ventriculomegaly were associated with developmental delay than more severe isolated ventriculomegaly (9.7% vs 41.7%, P<0.03).
Conclusions:
Chromosomal microarray analysis testing should be offered to all women with fetal cerebral ventriculomegaly, including women with isolated mild ventriculomegaly. The incidence of developmental delay after birth increases with the degree of prenatal cerebral ventriculomegaly.
... Their utility, characteristic findings as well as limitations are summarised in [ Figure 4]. [28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45] CSF flow studies: CSF flow studies in form of Cine PC-MRI are useful in diagnosis of aqueductal stenosis by demonstrating blockage of CSF flow at the level of the aqueduct. CSF flush peak occurs much earlier in these patients with an almost 50% reduction in atrioventricular delay. ...
... Gold standard to visualize the ventricular system and associated anomalies [33] ) Sagittal steady-state T2 imaging is helpful to evaluate the suitability of ETV & the functioning of the ventriculostomy. Phase-contrast sequences CSF flow velocity and the direction of flow. ...
Hydrocephalus is a common clinical problem encountered in neurosurgical practice. With greater subspecialisation, pediatric neurosurgery has emerged as a special discipline in several countries. However, in the developing world, which inhabits a large pediatric population, a limited number of neurosurgeons manage all types of hydrocephalus across all ages. There are some essential differences in pediatric and adult hydrocephalus. The spectrum of hydrocephalus of dysgenetic origin in a neonate and that of normal pressure hydrocephalus of the old age has a completely different strategy of management. Endoscopic third ventriculostomy outcomes are known to be closely associated with age at presentation and surgery. Efficacy of alternative pathways of CSF absorption also differs according to age. Managing this disease in various age groups is challenging because of these differences in etiopathology, tempo of the disease, modalities of investigations and various treatment protocols as well as prognosis.
... With regard to prenatal imaging, most reports focused on structural abnormalities. 12,13 However, in clinical practice, BVM with soft markers and non-structural abnormalities are also frequently encountered. Limited data are available on the outcomes regarding such cases. ...
Objective
This retrospective study aimed to systematically evaluate the genetic disorders, cytomegalovirus (CMV) infection, extra ultrasound findings and outcomes of fetuses with bilateral ventriculomegaly (BVM).
Methods
Data from pregnancies with fetal BVM were obtained between 2014 and 2020. The cases were divided into groups of isolated bilateral ventriculomegaly (IBVM) and non-isolated bilateral ventriculomegaly (NIBVM) according to the presence of extra prenatal imaging. Subgroups of mild, moderate, and severe were determined according to lateral ventricle widths. The NIBVM group was further classified into pregnancies with soft markers, non-structural abnormalities, and structural abnormalities.
Results
A total of 353 pregnancies were enrolled, including 153 cases of IBVM and 200 cases of NIBVM. Conventional karyotyping was performed on 192 samples, and 15 cases of numerical abnormalities and 3 cases of unbalanced structural abnormalities were identified. Chromosomal microarray analysis (CMA) was concurrently performed on 108 of them and revealed additional 5 cases (4.7%) of copy number variants with clinical significance. CMV DNA testing was performed on 154 of the 192 cases that underwent invasive prenatal diagnosis, and a positive result was found in 2 (1.3%) cases. In the IBVM group, the percentage of favorable prognosis in the mild, moderate and severe pregnancies were 94.4%, 79.2%, and 4.8%, respectively, and the termination of pregnancy (TOP) rates were 4.6%, 20.8%, and 85.7%, respectively. In both the mild and moderate NIBVM, the TOP rates progressively increased and the favorable prognosis survival rates progressively decreased relative to the soft markers, non-structural abnormalities, and structural abnormalities, respectively. Approximately 94.1% of severe NIBVM ended in termination.
Conclusion
Genetic disorders and fetal infection are important etiology of BVM. CMA is highly recommended for genetic disorders’ evaluation. Pregnancies with severe BVM always ended in TOP, while in mild-to-moderate NIBVM, prenatal imaging by ultrasound and/or MRI plays important roles in the pregnancy outcomes.
... The new generation of ultrasonography machines provides a highresolution and excellent quality of imaging to detect and define abnormalities in fetal ventriculomegaly [40,74]. Fetal MRI provides even more accurate and defined information, so it can be a very valuable tool to complement ultrasonography findings [95]. Some groups [66] have identified specific characteristics on fetal MR imaging that allows a reliable and definitive diagnosis of congenital aqueductal stenosis. ...
... An extended list of well-known genetic diseases and cytogenetic abnormalities are associated with congenital hydrocephalus. The most frequent cytogenetic abnormalities in symptomatic hydrocephalus include (mosaic) trisomy 9, 9p, 13, and 18 and (mosaic) triploidy [105], and the most relevant genetic disease is X-linked hydrocephalus [95]. This last occurs as part of the L1 syndrome, caused by mutations of the L1CAM gene on Xq28. ...
Despite unfavorable outcomes during the early experience with in utero intervention for congenital hydrocephalus, improvements in prenatal diagnosis, patient selection, and fetal surgery techniques have led to a renewed interest in fetal intervention for congenital hydrocephalus. Research studies and clinical evidence shows that postnatal cerebrospinal fluid diversion to release intraventricular pressure and cerebral mantle compression usually arrives late to avoid irreversible brain damage. Make sense to decompress those lateral ventricles as soon as possible during the intrauterine life when hydrocephalus is antenatally detected. We present a historical review of research in animal models as well as clinical experience in the last decades, traveling until the last years when some research fetal therapy groups have made significant progress in recapitulating the prenatal intervention for fetuses with congenital obstructive hydrocephalus.
... Ventriculomegaly is an observation that includes hydrocephalus but may also include malformations of the brain with enlarged ventricles that are not being distorted but are static such as in the case of holoprosencephaly or following brain insults. For a complete discussion and classification of infantile ventriculomegaly, see the work from the Cincinnati Children's Hospital on this topic [31]. Hydrocephalus in Fig. 1 Classification of hydrocephalus based on the concept of a circuit diagram of CSF flow and points of obstruction infants results from multiple etiologies including congenital anomalies, genetic disorders or syndromes, and hydrocephalus from acquired conditions such as hemorrhage, infection, or brain tumors. ...
... The second difference between the hydrocephalus due to congenital anomalies and other causes relates to the point of restriction of transit from the point of production of the CSF in the ventricles to its ultimate source of absorption. Hydrocephalus occurs frequently in a large number of congenital anomalies [31]. The point of restriction of flow may be obvious, or there could be multiple sites of obstruction. ...
ObjectHydrocephalus diagnosed prenatally or in infancy differs substantially from hydrocephalus that develops later in life. The purpose of this review is to explore hydrocephalus that begins before skull closure and full development of the brain. Understanding the unique biomechanics of hydrocephalus beginning very early in life is essential to explain two poorly understood and controversial issues. The first is why is endoscopic third ventriculostomy (ETV) less likely to be successful in premature babies and in infants? The second relates to shunt failure in a subset of older patients treated in infancy leading to life-threatening intracranial pressure without increase in ventricular volume.Methods
The review will utilize engineering concepts related to ventricular volume regulation to explain the unique nature of hydrocephalus developing in the fetus and infant. Based on these concepts, their application to the treatment of complex issues of hydrocephalus management, and a review of the literature, it is possible to assess treatment strategies specific to the infant or former infant with hydrocephalus-related issues throughout life.ResultsBased on engineering, all hydrocephalus, except in choroid plexus tumors or hyperplasia, relates to restriction of the flow of cerebrospinal fluid (CSF). Hydrocephalus develops when there is a pressure difference from the ventricles and a space exterior to the brain. When the intracranial volume is fixed due to a mature skull, that difference is between the ventricle and the cortical subarachnoid space. Due to the distensibility of the skull, hydrocephalus in infants may develop due to failure of the terminal absorption of CSF. The discussion of specific surgical treatments based on biomechanical concepts discussed here has not been specifically validated by prospective trials. The rare nature of the issues discussed and the need to follow the patients for decades make this quite difficult. A prospective registry would be helpful in the validation of surgical recommendations.Conclusion
The time of first intervention for treatment of hydrocephalus is an important part of the history. Treatment strategies should be based on the assessment of the roll of trans-mantle pressure differences in deciding treatment strategies. Following skull closure distension of the ventricles at the time of shunt failure requires a pressure differential between the ventricles and the cortical subarachnoid space.
