Multiloculated hydrocephalus: Evolution of treatments and outcome

Venkataramana, NeelamKrishnan

doi:10.4103/jpn.jpn_73_16

Cited by 3 publications

(2 citation statements)

References 31 publications

(48 reference statements)

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“…Furthermore, earlier CH diagnosis would allow for earlier postnatal treatment and, perhaps, better clinical outcomes. 48 Allowing families and clinicians more time to provide tailored, informed careemotionally, financially, clinically, and otherwise-for a newborn with a known CH diagnosis could increase quality of life for all involved. 4 In our analysis, all ventriculomegaly cases were severe and prenatal.…”

Section: Discussionmentioning

confidence: 99%

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

Greenberg,

Mehta,

Allington

et al. 2023

JAMA Netw Open

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ImportanceExome sequencing (ES) has been established as the preferred first line of diagnostic testing for certain neurodevelopmental disorders, such as global developmental delay and autism spectrum disorder; however, current recommendations are not specific to or inclusive of congenital hydrocephalus (CH).ObjectiveTo determine the diagnostic yield of ES in CH and whether ES should be considered as a first line diagnostic test for CHData SourcesPubMed, Cochrane Library, and Google Scholar were used to identify studies published in English between January 1, 2010, and April 10, 2023. The following search terms were used to identify studies: congenital hydrocephalus, ventriculomegaly, cerebral ventriculomegaly, primary ventriculomegaly, fetal ventriculomegaly, prenatal ventriculomegaly, molecular analysis, genetic cause, genetic etiology, genetic testing, exome sequencing, whole exome sequencing, genome sequencing, microarray, microarray analysis, and copy number variants.Study SelectionEligible studies included those with at least 10 probands with the defining feature of CH and/or severe cerebral ventriculomegaly that had undergone ES. Studies with fewer than 10 probands, studies of mild or moderate ventriculomegaly, and studies using genetic tests other than ES were excluded. A full-text review of 68 studies was conducted by 2 reviewers. Discrepancies were resolved by consensus.Data Extraction and SynthesisPreferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Meta-Analysis of Observational Studies in Epidemiology guidelines were used by 2 reviewers to extract data. Data were synthesized using a random-effects model of single proportions. Data analysis occurred in April 2023.Main Outcomes and MeasuresThe primary outcome was pooled diagnostic yield. Additional diagnostic yields were estimated for specific subgroups on the basis of clinical features, syndromic presentation, and parental consanguinity. For each outcome, a 95% CI and estimate of interstudy heterogeneity (I2 statistic) was reported.ResultsFrom 498 deduplicated and screened records, 9 studies with a total of 538 CH probands were selected for final inclusion. The overall diagnostic yield was 37.9% (95% CI, 20.0%-57.4%; I2 = 90.1). The yield was lower for isolated and/or nonsyndromic cases (21.3%; 95% CI, 12.8%-31.0%; I2 = 55.7). The yield was higher for probands with reported consanguinity (76.3%; 95% CI, 65.1%-86.1%; I2 = 0) than those without (16.2%; 95% CI, 12.2%-20.5%; I2 = 0).Conclusions and RelevanceIn this systematic review and meta-analysis of the diagnostic yield of ES in CH, the diagnostic yield was concordant with that of previous recommendations for other neurodevelopmental disorders, suggesting that ES should also be recommended as a routine diagnostic adjunct for patients with CH.

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Section: Discussionmentioning

confidence: 99%

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

Greenberg,

Mehta,

Allington

et al. 2023

JAMA Netw Open

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“…This approach avoids the excessive risk of morbidity and mortality from placing multiple ventricular catheters, such as an increased risk of infections and a high probability of requiring multiple re-interventions due to catheter obstructions. [ 2 , 7 - 10 , 21 , 22 , 26 ]…”

Section: Discussionmentioning

confidence: 99%

Intraventricular endoscopy and intraventricular antibiotics in the treatment of multiloculated hydrocephalus with ventriculitis in a neonate and an infant: Two case reports

Valdivia,

Vega,

Pérez

2023

Surgical Neurology International

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Background: We present two pediatric cases, a neonate and an infant, who presented with treatment-refractory ventriculitis and multiloculated hydrocephalus treated with simultaneous intraventricular endoscopy and antibiotics. This is the first report of this combined therapy in children. Case Description: Using intraventricular endoscopic surgery and antibiotics, hydrocephalus was treated with a minimum number of ventricular shunt systems. In addition, treatment-refractory ventriculitis was treated in both patients using intraventricular antibiotics. Conclusion: Endoscopic surgery and intraventricular antibiotic administration are useful strategies for treating multiloculated hydrocephalus and ventriculitis in children.

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Ventricular Development, Ventriculomegaly, and Hydrocephalus in the Fetus and Newborn

du Plessis,

Limbrick,

Volpe

2025

Volpe's Neurology of the Newborn

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Multiloculated hydrocephalus: Evolution of treatments and outcome

Cited by 3 publications

References 31 publications

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

Intraventricular endoscopy and intraventricular antibiotics in the treatment of multiloculated hydrocephalus with ventriculitis in a neonate and an infant: Two case reports

Ventricular Development, Ventriculomegaly, and Hydrocephalus in the Fetus and Newborn

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