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Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.

ABSTRACT: Knobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1 . KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

SUBMITTER: Patil SJ

PROVIDER: S-EPMC9848758 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic <i>COL18A1</i> Mutation: Case-Based Review.

Patil Siddaramappa J SJ Pande Shruti S Matalia Jyoti J Bhat Venkatraman V Kekatpure Minal M Girisha Katta Mohan KM

Journal of pediatric genetics 20201210 1

Knobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in <i>COL18A1</i> . KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was ...[more]

PMID: 36684549

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Project description:ObjectiveNormal cognitive development usually requires a structurally intact and complete cerebellar vermis. The aim of this study was to evaluate whether quantification by fetal magnetic resonance imaging (MRI) of vermis- and brainstem-specific imaging markers improves the definition of cystic posterior fossa malformations (cPFM).MethodsFetuses diagnosed with cPFM that had an available midsagittal plane on T2-weighted MRI were identified retrospectively and compared with gestational-age (GA) matched brain-normal controls. Fetuses with cPFM were assigned to three groups, according to standard criteria (vermian size and brainstem-vermis (BV) angle): normal vermian area and BV angle < 25° (Group 1); reduced vermian area and/or BV angle of 25-45° (Group 2); and reduced vermian area and BV angle > 45° (Group 3; Dandy-Walker malformation (DWM) group). The number of differentiable vermian lobules and the areas of the vermis, mesencephalon, pons and medulla oblongata were quantified, correlated with and controlled for GA, and compared between the study groups.ResultsIn total, 142 cases of cPFM were included, with a mean GA of 25.20 ± 5.11 weeks. Cases comprised Blake's pouch cyst (n = 46), arachnoid cyst (n = 12), inferior vermian hypoplasia (n = 5), megacisterna magna (n = 35) and classic DWM (n = 44). In the control group, 148 fetuses were included, with a mean GA of 25.26 ± 4.12 weeks. All quantified areas and the number of differentiable vermian lobules had a significant positive correlation with GA. The number of vermian lobules and the areas of all quantified regions, except for that of the medulla oblongata, differed significantly between the study groups (P ≤ 0.015 for all). The control group had the highest number of differentiable vermian lobules and the DWM group had the lowest (P < 0.01).ConclusionsPrenatal MRI assessment of vermian lobules is a useful addition to standard neuroradiological and neurosonographic techniques. The quantification of vermian lobules using fetal MRI allows further differentiation of cPFM into subgroups and thereby improves the classification of hindbrain malformations. © 2019 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

Dataset Information

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.

Publications

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic <i>COL18A1</i> Mutation: Case-Based Review.

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