A Paternal Methylation Error in the Congenital Hydrocephalic Texas (H-Tx) Rat Is Partially Rescued with Natural Folate Supplements.

Folate deficiencies, folate imbalance and associated abnormal methylation are associated with birth defects, developmental delays, neurological conditions and diseases. In the hydrocephalic Texas (H-Tx) rat, 10-formyl tetrahydrofolate dehydrogenase (FDH) is reduced or absent from the CSF and the nuclei of cells in the brain and liver and this is correlated with decreased DNA methylation. In the present study, we tested whether impaired folate metabolism or methylation exists in sexually mature, unaffected H-Tx rats, which may explain the propagation of hydrocephalus in their offspring. We compared normal Sprague Dawley (SD, n = 6) rats with untreated H-Tx (uH-Tx, n = 6 and folate-treated H-Tx (TrH-Tx, n = 4). Structural abnormalities were observed in the testis of uH-Tx rats, with decreased methylation, increased demethylation, and cell death, particularly of sperm. FDH and FRα protein expression was increased in uH-Tx males but not in folate-treated males but tissue folate levels were unchanged. 5-Methylcytosine was significantly reduced in untreated and partially restored in treated individuals, while 5-hydroxymethylcytosine was not significantly changed. Similarly, a decrease in DNA-methyltransferase-1 expression in uH-Tx rats was partially reversed with treatment. The data expose a significant germline methylation error in unaffected adult male H-Tx rats from which hydrocephalic offspring are obtained. Reduced methylation in the testis and sperm was partially recovered by treatment with folate supplements leading us to conclude that this neurological disorder may not be completely eradicated by maternal supplementation alone.

Resolution of auditory neuropathy spectrum disorder after shunt placement in a patient with hydrocephalus: A case report.

PURPOSE: There have been previous case reports suggesting the resolution of both sensorineural hearing loss and retrocochlear involvement through the management of hydrocephalus with shunt placement. This is a case report of a patient with Auditory Neuropathy Spectrum Disorder (ANSD) that resolved after shunt placement in a patient with hydrocephalus. MATERIALS AND METHODS: Chart review of a single patient with a diagnosis of ANSD and hydrocephalus. Type of audiometric testing and results were document. RESULTS: Patient is an infant who was diagnosed with hydrocephalus at birth and ANSD in the right ear at 3 months of age. Patient underwent shunt placement at 9 months old and had behavioral testing 2 months later. Audiometry showed normal behavioral audiometric thresholds with presence of ipsilateral and contralateral reflexes which is suggestive of resolution of ANSD. CONCLUSIONS: This is a single case report of resolution of ANSD after shunt placement in a patient with hydrocephalus. Close monitoring and repeat audiological evaluation is recommended to follow these patients.

Prenatal work-up, associated anomalies and postnatal outcomes of foetuses with 9-9.9 mm cerebral ventricular atria width.

OBJECTIVE: To analyse prenatal work-up, associated anomalies and postnatal outcomes of foetuses with cerebral lateral ventricular width 9-9.9 mm. METHOD: This retrospective, observational, case-control study included 121 foetuses with initial presentation of isolated cerebral lateral ventricular width 9-9.9 mm detected during routine ultrasound scans, 21-24 weeks' gestation, in a tertiary referral centre, January 2001-December 2018. Controls included 123 foetuses with lateral ventricular width <9 mm measured under the same parameters. Clinical characteristics, obstetrical history, ultrasound findings, prenatal work-up and pregnancy outcomes were collected from medical records. Information about postnatal functional and neurodevelopmental sequelae were obtained from telephone-based questionnaires. RESULTS: The study group had more males (82/116 (70.6%) versus 65/123 (52.8%), p = 0.004), more prenatal testing, including brain magnetic resonance imaging (28/116 (24.1%) versus 0/123 (0%), p < 0.001), echocardiography (46/116 (39.7%) versus 15/123 (12.2%), p < 0.001) and targeted anomaly scans (102/116 (87.9%) versus 1/123 (0.008%), p < 0.001). Long-term follow-up did not reveal more neurodevelopmental sequelae compared to controls. Gender-based analysis found more males with ventricular dilatation 9-9.9 mm treated for developmental delay compared to females with similar findings (15/82 (18.2%) versus 1/34 (2.9%), p = 0.010). CONCLUSION: Foetuses with 9-9.9 mm cerebral lateral ventricular width versus <9 mm underwent more prenatal testing but had similar rates of neurodevelopmental sequelae.

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.

The prevalence of congenital hydrocephalus has been estimated at 1.1 per 1000 infants when including cases diagnosed before 1 year of age after exclusion of neural tube defects. Classification criteria are based either on CSF dynamics, pathophysiological mechanisms or associated lesions. Whereas inherited syndromic hydrocephalus has been associated with more than 100 disease-causing genes, only four genes are currently known to be linked to congenital hydrocephalus either isolated or as a major clinical feature: L1CAM, AP1S2, MPDZ and CCDC88C. In the past 10 years, pathogenic variants in CCDC88C have been documented but the neuropathology remains virtually unknown. We report the neuropathology of two foetuses from one family harbouring two novel compound heterozygous pathogenic variants in the CCDC88C gene: a maternally inherited indel in exon 22, c.3807_3809delinsACCT;p.(Gly1270Profs*53) and a paternally inherited deletion of exon 23, c.3967-?_c.4112-?;p.(Leu1323Argfs*10). Medical termination of pregnancy was performed at 18 and 23 weeks of gestation for severe bilateral ventriculomegaly. In both fetuses, brain lesions consisted of multifocal atresia-forking along the aqueduct of Sylvius and the central canal of the medulla, periventricular neuronal heterotopias and choroid plexus hydrops. The second fetus also presented lumbar myelomeningocele, left diaphragmatic hernia and bilateral renal agenesis. CCDC88C encodes the protein DAPLE which contributes to ependymal cell planar polarity by inhibiting the non-canonical Wnt signaling pathway and interacts with MPDZ and PARD3. Interestingly, heterozygous variants in PARD3 result in neural tube defects by defective tight junction formation and polarization process of the neuroepithelium. Besides, during organ formation Wnt signalling is a prerequisite for planar cell polarity pathway activation, and mutations in planar cell polarity genes lead to heart, lung and kidney malformations. Hence, candidate variants in CCDC88C should be carefully considered whether brain lesions are isolated or associated with malformations suspected to result from disorders of planar cell polarity.

Choroid plexus NKCC1 mediates cerebrospinal fluid clearance during mouse early postnatal development.

Cerebrospinal fluid (CSF) provides vital support for the brain. Abnormal CSF accumulation, such as hydrocephalus, can negatively affect perinatal neurodevelopment. The mechanisms regulating CSF clearance during the postnatal critical period are unclear. Here, we show that CSF K+, accompanied by water, is cleared through the choroid plexus (ChP) during mouse early postnatal development. We report that, at this developmental stage, the ChP showed increased ATP production and increased expression of ATP-dependent K+ transporters, particularly the Na+, K+, Cl-, and water cotransporter NKCC1. Overexpression of NKCC1 in the ChP resulted in increased CSF K+ clearance, increased cerebral compliance, and reduced circulating CSF in the brain without changes in intracranial pressure in mice. Moreover, ChP-specific NKCC1 overexpression in an obstructive hydrocephalus mouse model resulted in reduced ventriculomegaly. Collectively, our results implicate NKCC1 in regulating CSF K+ clearance through the ChP in the critical period during postnatal neurodevelopment in mice.

Case Report: Multiorgan Involvement with Congenital Zika Syndrome.

We report the case of an infant born with congenital Zika syndrome (CZS). During the largest Zika virus (ZIKV) outbreak in Peru, the mother presented with fever and rash that were confirmed to be due to ZIKV by real-time PCR. The infant was born with severe microcephaly. Imaging revealed corpus callosum dysgenesis, lissencephaly, ventriculomegaly, and calcifications. Mild hypertrophic cardiomyopathy with diastolic dysfunction was reported in the echocardiogram. Valgus deviation of the lower extremities and a left clubfoot were diagnosed at birth. The hip ultrasound showed incipient signs of Graf type II dysplasia. The findings confirm that CZS is a multiorgan phenotype in which microcephaly is merely the tip of the iceberg. A multidisciplinary approach is needed for the evaluation of these children.

Loss of Rsph9 causes neonatal hydrocephalus with abnormal development of motile cilia in mice.

Hydrocephalus is a brain disorder triggered by cerebrospinal fluid accumulation in brain cavities. Even though cerebrospinal fluid flow is known to be driven by the orchestrated beating of the bundled motile cilia of ependymal cells, little is known about the mechanism of ciliary motility. RSPH9 is increasingly becoming recognized as a vital component of radial spokes in ciliary "9 + 2" ultrastructure organization. Here, we show that deletion of the Rsph9 gene leads to the development of hydrocephalus in the early postnatal period. However, the neurodevelopment and astrocyte development are normal in embryonic Rsph9-/- mice. The tubular structure of the central aqueduct was comparable in Rsph9-/- mice. Using high-speed video microscopy, we visualized lower beating amplitude and irregular rotation beating pattern of cilia bundles in Rsph9-/- mice compared with that of wild-type mice. And the centriolar patch size was significantly increased in Rsph9-/- cells. TEM results showed that deletion of Rsph9 causes little impact in ciliary axonemal organization but the Rsph9-/- cilia frequently had abnormal ectopic ciliary membrane inclusions. In addition, hydrocephalus in Rsph9-/- mice results in the development of astrogliosis, microgliosis and cerebrovascular abnormalities. Eventually, the ependymal cells sloughed off of the lateral wall. Our results collectively suggested that RSPH9 is essential for ciliary structure and motility of mouse ependymal cilia, and its deletion causes the pathogenesis of hydrocephalus.

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a developmental brain disorder characterized by an enlarged brain size with bilateral perisylvian polymicrogyria and a variable degree of ventriculomegaly. MPPH syndrome is associated with oromotor dysfunction, epilepsy, intellectual disability and postaxial hexadactyly. The molecular diagnosis of this disorder is established by the identification of a pathogenic variant in either AKT3, CCND2 or PIK3R2. Previously reported AKT3 variants are associated with various brain abnormalities and may lead to megalencephaly. MPPH syndrome is usually due to germline pathogenic AKT3 variants. Somatic mosaic pathogenic variants associated with hemimegalencephaly, which is similar to MPPH, have also been observed. A Hungarian Roma family with two half-siblings, which present with intellectual disability, dysmorphic features, epilepsy, brain malformations, and megalencephaly was studied. Whole exome sequencing (WES) analysis was performed. WES analysis revealed a heterozygous c.1393C > T p.(Arg465Trp) pathogenic missense AKT3 variant in both affected half-siblings. The variant was verified via Sanger sequencing and was not present in the DNA sample from the healthy mother, which was derived from peripheral blood, suggesting maternal germline mosaicism. In conclusion, this is the first report in which maternal germline mosaicism of a rare pathogenic AKT3 variant leads to autosomal dominantly inherited MPPH syndrome.

Spontaneous Extrusion of Ventriculopleural Shunt Catheter Associated with Pleural Effusion.

BACKGROUND: Ventriculopleural (VPL) shunts are used infrequently in management of hydrocephalus. The main complication associated with these shunts is pleural effusion. CASE DESCRIPTION: A 28-year-old man with a history of congenital hydrocephalus had a VPL shunt inserted. Two years later, he noticed a soft bulging in the surgical scar area of the chest, suggestive of fluid accumulation. The scar subsequently opened up spontaneously exposing the distal catheter, which extruded through the opening. Chest radiographs and computed tomography scan showed an important pleural effusion on the same side. The VPL shunt was removed, and a contralateral shunt was inserted. CONCLUSIONS: To our knowledge, spontaneous extrusion of the distal catheter of a VPL shunt has not been previously reported in the literature. Physicians treating patients with hydrocephalus must be aware of this potential complication when a VPL shunt is inserted.

A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus.

BACKGROUND: Congenital hydrocephalus is a descriptive diagnosis of symptoms, that are present for numerous reasons, including chromosomal disorders, genetic mutations, intrauterine infection and hemorrhage, amongst other factors. Mutation of L1CAM gene is the most frequent cause of congenital hydrocephalus, contributing to approximately 30% of X-linked congenital hydrocephalus. METHODS: In the present study, we used whole-exome sequencing and Sanger sequencing to investigate an aborted male fetus present with severe congenital hydrocephalus at 24 weeks of gestation, whose mother had a history of two previous voluntary terminations of pregnancies as a result of hydrocephalus. Magnetic resonance imaging, an autopsy and electron microscopy were performed and the phenotypic changes were described. RESULTS: Whole-exome sequencing in the fetus, as well as variant segregation analysis, revealed a novel maternally derived hemizygous nonsense mutation (c.2865G>A; p. Y955*) in exon 21 of the L1CAM gene (NM_000425.4). Severe hydrocephalus was observed along with marked dilatation of lateral ventricles. An electron micrograph of the surface of lateral ventricle walls revealed a lack of ependymal cilia. CONCLUSION: The present study suggests that L1CAM mutation screening should be considered for a male fetus with isolated hydrocephalus, especially with a family history, which could facilitate prenatal diagnosis in a subsequent pregnancy.

Factores asociados a hidrocefalia congénita / Factors associated to congenital hydrocephaly

RESUMEN La hidrocefalia congénita constituye un síndrome polimórfico, que reúne afecciones diversas que conllevan a la discapacidad mental y a la muerte, puede aparecer como una malformación aislada o asociarse a otras, relacionada con un gran número de defunciones. La mayoría de los casos diagnosticados prenatalmente no llegan al nacimiento, lo cual significa que es necesario la prevención preconcepcional de los factores de riesgo asociados, los cuales son disímiles y en su mayoría prevenibles. Se revisó la bibliografía actualizada en las bases de datos bibliográficas Scielo y ClinicalKey, además de tesis de terminación de las especialidades Embriología Médica, Ginecobstetricia, Pediatría y Medicina Interna. Entre los factores de riesgo asociados se destacan el déficit de ácido fólico, las infecciones maternas, así como agentes físicos y químicos. El objetivo fue exponer los referentes teóricos relacionados con la hidrocefalia congénita y sus factores asociados, basándose en los fundamentos teóricos más actualizados (AU).

SUMMARY Congenital hydrocephaly is a polymorphic syndrome comprising diverse diseases that lead to mental disability and death. It could appear like an isolated malformation or associated to other malformations and is related to a great number of deceases. Most of the cases diagnosed prenatally are not borne, meaning not only that incidence is slow, but also that a great work is needed in the pre-conceptive prevention of the associated risk factors that are different and mostly preventable and modifiable. That is why it is an important multifactorial health problem. Among the associated risk factors the most important are folic acid deficit, maternal infections, and also physical and chemical agents. The theoretical referents related to congenital hydrocephaly and its associated factors are declared the aim of this research on the basis of the most updated theoretical principles (AU).

Mielomeningocele Congénito: Presentación de un caso / Congenital myelomeningocele. Case presentation

Introducción: el mielomeningocele es una anomalía congénita del tubo neural en la cual los huesos de la columna no se forman totalmente y el conducto raquídeo está incompleto, lo cual permite que la médula espinal y las meninges protruyan por la espalda del niño. Presentación del caso: recién nacido del sexo masculino, producto de un parto distócico (cesárea por pelviano más diagnóstico prenatal de malformación congénita), clínicamente a término (EG 38 semanas por test de Parkin), de buen peso al nacer (3 600 gr), Apgar 9-9, Serología No reactiva, Grupo y Factor B positivo, con cordón y placenta normal, un líquido amniótico claro y sin RPM. Que al examen físico presenta un saco íntegro que sobresale en la región lumbosacra acompañado de parálisis total de ambos miembros inferiores. Sin signos de distrés respiratorio, rosado, bien perfundido, llanto fuerte y vitalidad conservada. Discusión: recién nacido de 22 días de edad que es llevado al quirófano para realizar derivación ventrículo-peritoneal con el diagnóstico de hidrocefalia activa. Previamente se toma muestra del líquido cefalorraquídeo para estudios del mismo siendo negativos. Se decide asociar al tratamiento con acetozolamida o glaumóx y hasta el momento ha mantenido una evolución satisfactoria. Conclusiones: el recién nacido presenta diversos síntomas y signos comunes a una malformación del sistema nervioso central (Mielomeningocele Congénito); en este caso en particular llama la atención que, similar a lo que reporta la literatura sobre el tema, el neonato presentó dilatación ventricular e Hidrocefalia asociadas(AU)

Introduction: myelomeningocele is a congenital anomaly of the neural tube in which the bones of the spine are not fully formed and the spinal canal is incomplete, which allows the spinal cord and meninges to protrude through the child's back. Case presentation: newborn male, product of a dystocic delivery (cesarean section by pelvic plus prenatal diagnosis of congenital malformation), clinically at term (EG 38 weeks by Parkin test), with good birth weight (3 600 gr), Apgar 9-9, Nonreactive Serology, Group and Factor B positive, with cord and normal placenta, a clear amniotic fluid and without RPM. On physical examination, he presents a full sac that protrudes in the lumbosacral region accompanied by total paralysis of both lower limbs. No signs of respiratory distress, pink, well perfused, crying loudly and preserved vitality. Discussion: 22-day-old newborn who is taken to the operating room to perform a ventricle-peritoneal shunt with the diagnosis of active hydrocephalus. A sample of the cerebrospinal fluid was previously taken for negative studies. It was decided to associate it with treatment with acetozolamide or glaumox and up to now it has maintained a satisfactory evolution. Conclusions: the newborn presents various symptoms and signs common to a malformation of the central nervous system (Congenital Myelomeningocele); In this particular case it is striking that, similar to what is reported in the literature on the subject, the neonate presented ventricular dilation and associated Hydrocephalus(EU)

Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI : A Pictorial Review.

PURPOSE: The clinical variability of Blake's pouch cysts (BPC) may range from asymptomatic via ataxia to sequelae of decompensated hydrocephalus. On the other hand, Dandy-Walker malformation (DWM) and cerebellar vermis hypoplasia generally correlate with less favorable neurologic development. The aim was to illustrate the potential of prenatal and postnatal neuroimaging to distinguish a BPC or persistent BP from other posterior fossa malformations. METHODS: This pictorial review addresses the inconsistent nomenclature, clinical features, and magnetic resonance imaging (MRI) patterns of BPC and five differential diagnoses. The MRI findings of 11 patients, acquired at up to 3 T in 3 institutions, are demonstrated. Furthermore, the literature was searched for recent improvements in genetic and embryological background knowledge. RESULTS: Posterior fossa malformations often resemble each other and may even be imitated by sequelae of hemorrhagic, ischemic or infectious disruptions, i.e. congenital anomalies of morphology despite normal developmental potential. Hydrocephalus is a typical, albeit not always congenital finding in BPC. It is frequently associated with cerebellar disruptions and DWM; however, it is also a rare complication of posterior fossa arachnoid cysts. A moderately elevated vermis needs follow-up to confirm persistent BP versus vermian hypoplasia or DWM. The fetal cerebellar tail, previously assumed to be specific for DWM, may be imitated in cases of persistent BP. CONCLUSION: The accurate diagnosis of isolated BPC is not always straightforward, which is especially critical in the context of fetomaternal medicine. A detailed description of posterior fossa malformations is to be preferred over unspecific terminology.

Prenatal diagnosis of foetal hydrocephalus and suspected X-linked recessive inheritance of cleft lip in a Chihuahua.

A 3.5-year-old, 2.9 kg, multiparous Chihuahua presented with abdominal distension; pregnancy was diagnosed. On Day 7 before parturition, prenatal sonograms showed anechoic bilateral dilated cerebral lateral ventricles, suggesting fluid-filled regions (ventriculomegaly) in one foetus. A Caesarean section was performed and the male newborn had an abnormally enlarged dome-shaped head and a cleft lip, and died 6 days after birth. According to the family pedigree, the X-linked recessive inheritance of an orofacial cleft from the unaffected mother was suggested. This report clearly demonstrates that canine foetal ventriculomegaly (hydrocephalus) can be diagnosed in utero. For dog breeds predisposed to congenital ventriculomegaly, early detection is important for the prediction of perinatal survival and adequate supportive care can be applied at delivery.

Neonatal Hydrocephalus Treatment with Ultrasmall Valve Implantation.

OBJECTIVE: Neonatal hydrocephalus remains a difficult condition to manage, due to high failure rates among all management strategies. Neurosurgeons commonly manage hydrocephalus with ventriculoperitoneal shunt (VPS) implantation, and valves of variable sizes and profiles are available for implantation. This study examines primary ventricular shunt valve implantation complication rates based on valve profiles in pediatric patients with hydrocephalus. METHODS: This study retrospectively reviews pediatric patients younger than 1 year of age who underwent ventricular shunt placement at a single institution from January 2001 to January 2017. Patients were classified by valve profile and categorized as either ultrasmall valves or regular-sized valves. Time until complication and type of complication were studied. RESULTS: A total of 156 patients met the inclusion criteria. Forty-eight (31%) patients received an ultrasmall shunt valve, while 108 patients received a regular valve. On average, patients undergoing ultrasmall valve placement were younger (2.1 months) than patients undergoing placement of regular valves (3.1 months) (P = 0.03). The overall complication rate within 2 years of VPS placement was 37.5% in patients with the ultrasmall valve and 41.7% in the regular valve population. There was no difference in 1-year shunt survival rate between the 2 cohorts. CONCLUSION: Our review did not find a significant difference in complication rates between ultrasmall and regular valves in patients under 1 year of age. However, the etiology of shunt malfunction did differ between the groups. This work further supports evidence suggesting a surgeon's preference for shunt hardware alone does not significantly impact outcome.

Histologic Appearance of Iatrogenic Obstructive Hydrocephalus in the Fetal Lamb Model.

INTRODUCTION: Documentation of histologic findings associated with congenital hydrocephalus in the fetal lamb model is a critical step in evaluating the efficacy of ventriculoamniotic shunting in the human fetus. METHODS: Four fetal sheep had hydrocephalus induced at approximately 95 days' gestation. Two co-twins remained as controls. The ewes were euthanized at term. The lamb brains were fixed in formalin, paraffin-embedded, stained, and analyzed for markers of neuropathology. Astrocytosis, microgliosis, and axonal loss were assessed with immunocytochemistry for glial fibrillary acidic protein, ionized calcium-binding adapter, and neurofilament/amyloid precursor protein, respectively. Cortical gray matter extracellular matrix was assessed with staining for the lectin Wisteria Floribunda agglutinin. RESULTS: Hydrocephalic lamb brains demonstrated deep white matter damage with loss of projecting axonal tracts in regions physically distorted by hydrocephalus, similar to that seen in hydrocephalic humans. There was no evidence of abnormal neocortical neuronal migration; however, there was evidence for delayed maturation of the neocortical gray matter, possibly from increased intracerebral pressure and subsequent ischemia. Control lamb brains demonstrated none of the above findings. CONCLUSION: This histological approach can be used to further define the mechanism of brain damage associated with hydrocephalus and interpret the efficacy of ventriculoamniotic shunting on fetal lamb brain neuroanatomy.

Anal Extrusion of a Ventriculoperitoneal Shunt.

Ventriculoperitoneal shunt (VPS) placement is an effective and most frequently used surgical method in the treatment of hydrocephalus, but the mechanical and infective complications are often seen after this surgical procedure. Bowel perforation after VPS surgery is rarely seen complication that is reported ranging between 0.1% and 0.7% in the literature. We report a case of 10-month baby who was shunted at day three of her life and has presented to us with protruding distal end of the ventricular catheter through anus. Mechanism of migration of VPS is unclarified yet; nevertheless, children with myelomeningocele have weakness of the bowel muscles, which probably makes it more sensitive for perforation. Additionally, sharp and stiff end of the VPS, use of trocar by some surgeons, chronic irritation by the shunt, previous surgery, infection and silicone allergy are other possible reasons of bowel perforation. Peritonitis and ventriculitis have a high morbidity and mortality that may occur after VPS-related bowel perforations; hence, it should be managed rapidly and aggressively to reduce morbidity and mortality.

A Pial Arteriovenous Fistula in Infancy as the Presenting Manifestation of Hereditary Hemorrhagic Telangiectasia.

BACKGROUND: Pial arteriovenous fistulas (PAVFs) are rare, accounting for 1.6%-4.7% of all intracranial vascular malformations. Often diagnosed in childhood, about 30% are associated with hereditary hemorrhagic telangiectasia. A case of PAVF diagnosed soon after birth and given cerebrovascular therapy 4 months after birth is reported. CASE DESCRIPTION: The patient presented with heart failure immediately after birth. Ultrasonography of the head showed abnormal blood flow in the brain. On digital subtraction angiography performed 4 months after birth, a PAVF with a dural feeder shunt and a giant varix at the posterior temporal part was confirmed. After transarterial embolization (TAE), shunt blood flow disappeared. New shunt flow from the right posterior cerebral artery into the varix was confirmed by magnetic resonance imaging 3 months after the operation. A second TAE procedure using a liquid embolic material was performed and confirmed the complete disappearance of the shunt. CONCLUSIONS: This report describes a case of infant PAVF with heart failure, a giant varix, hydrocephalus, and intraventricular hemorrhage treated by TAE using platinum coils and liquid embolic material.

Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome.

BACKGROUND AND PURPOSE: To examine prenatal MRI and postnatal imaging in fetuses with congenital aqueductal stenosis (CAS) to determine the frequency of association of rhombencephalosynapsis (RES) and how it may affect neonatal intensive care unit (NICU) course. MATERIALS AND METHODS: A single center IRB-approved retrospective study of children with CAS was performed. Prenatal MRI, postnatal images, and clinical data were reviewed. Statistical analysis was performed with SAS statistical software package version 9.3. RESULTS: Aqueduct obstruction was confirmed for all 30 participants. Hydrocephalus required shunting in all but one (97%). Fifteen neonates had CAS with rhomboencephalosynapsis (RES) (50%). Although neonatal course between the two groups was comparable, 53% of CAS with RES neonates required feeding assistance versus 20% in CAS only (P = 0.128). Shunting in the CAS with RES group occurred at average of 6 days of life versus CAS group at 55 days (P = 0.196). Biometry measurements showed a statistically significant decrease in pons antero-posterior diameter in both groups (CAS only P = 0.0049 and CAS with RES P = 0.0003) when compared with norms for gestational age. CONCLUSION: CAS has a high association with RES. Feeding assistance in the NICU and earlier neurosurgical intervention may be required in patients with CAS who also have RES.