Congenital Hydrocephalus

Estey, Chelsie M.

doi:10.1016/j.cvsm.2015.10.003

Cited by 38 publications

(62 citation statements)

References 26 publications

(31 reference statements)

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“…The early detection of foetal abnormalities can be useful for perinatal survival and monitoring parturition to minimise foetal loss at delivery [2]. In the present study, hydrocephalus was diagnosed in a Chihuahua, which is in agreement with previous reports demonstrating a higher incidence of this particular abnormality in small and toy breeds [5,19,27]. In a study by Freitas and colleagues, foetal hydrocephalus, as indicated by an increased amount of cerebrospinal fluid accumulation inside the ventricles, was sonographically diagnosed in dogs from the 7th week of pregnancy, and there was only a moderate accumulation of fluid in the cerebral ventricles, with no significant change in the BPD measurement [6].…”

supporting

confidence: 92%

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

Sananmuang

Mankong

Jeeratanyasakul

et al. 2020

The Journal of Veterinary Medical Science

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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.

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supporting

confidence: 92%

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

Sananmuang

Mankong

Jeeratanyasakul

et al. 2020

The Journal of Veterinary Medical Science

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“…Mice carrying loss-offunction mutations (LOF) in either L1CAM (Dahme et al, 1997;Rolf et al, 2001) or MPDZ (Feldner et al, 2017) developed severe hydrocephalus similar to human carriers of biallelic L1CAM (Kanemura et al, 2006) and MPDZ mutants (Al-Dosari et al, 2013;Saugier-Veber et al, 2017). Hydrocephalus results from impediment of the circulation of the cerebrospinal fluid (CSF), causing its accumulation in the brain ventricles as a result of either excessive CSF inflow, attenuated flow through the ventricles, or blocked outflow (Estey, 2016;Kahle et al, 2016). The L1CAM and Mpdz mouse models afforded anatomic and histological analysis for determining the nature of the defects that interfered with CSF circulation.…”

Section: Introductionmentioning

confidence: 99%

Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

et al. 2018

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Though congenital hydrocephalus is heritable, it has been linked only to eight genes, one of which is MPDZ. Humans and mice that carry a truncated version of MPDZ incur severe hydrocephalus resulting in acute morbidity and lethality. We show by magnetic resonance imaging that contrast medium penetrates into the brain ventricles of mice carrying a Mpdz loss‐of‐function mutation, whereas none is detected in the ventricles of normal mice, implying that the permeability of the choroid plexus epithelial cell monolayer is abnormally high. Comparative proteomic analysis of the cerebrospinal fluid of normal and hydrocephalic mice revealed up to a 53‐fold increase in protein concentration, suggesting that transcytosis through the choroid plexus epithelial cells of Mpdz KO mice is substantially higher than in normal mice. These conclusions are supported by ultrastructural evidence, and by immunohistochemistry and cytology data. Our results provide a straightforward and concise explanation for the pathophysiology of Mpdz‐linked hydrocephalus.

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“…Congenital brain malformations in humans are caused by genetic variants, in utero infection, or other environmental factors. Dogs and cats are also occasionally diagnosed with congenital brain malformations (Reviewed in [1]), which are noted as breed predispositions, familial aggregations, and sporadic cases [2][3][4][5][6]. Congenital hydrocephalus is common in toy and brachycephalic dog breeds, such as the Maltese, Yorkshire terrier, Chihuahua, toy poodle, and pug dogs [7].…”

Section: Introductionmentioning

confidence: 99%

A deletion inGDF7is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats

Creighton

Buckley

et al. 2020

Preprint

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An inherited neurologic syndrome in a family of mixed-breed Oriental cats has been characterized as forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts. However, the genetic basis for this autosomal recessive syndrome in cats is unknown. Forty-three cats were genotyped on the Illumina Infinium Feline 63K iSelect DNA Array and used for analyses. Genome-wide association studies, including a sib-transmission disequilibrium test, a case-control association analysis, and homozygosity mapping, identified a critical region on cat chromosome A3. Short-read whole genome sequencing was completed for a cat trio segregating with the syndrome. A homozygous 7 bp deletion in growth differentiation factor 7 (GDF7) (c.221_227delGCCGCGC [p.Arg74Profs]) was identified in affected cats by comparison to the 99 Lives Cat variant dataset, validated using Sanger sequencing, and genotyped by fragment analyses. This variant was not identified in 192 unaffected cats in the 99Lives dataset. The variant segregated concordantly in an extended pedigree. Obligate carrier cats were heterozygous. In mice, GDF7 mRNA is expressed within the roof plate when commissural axons initiate ventrally-directed growth. This finding emphasizes the importance of GDF7 in the neurodevelopmental process in the mammalian brain. A genetic test can be developed for use by cat breeders to eradicate this variant.

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Congenital Hydrocephalus

Cited by 38 publications

References 26 publications

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

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

Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

A deletion inGDF7is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats

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