Caution is needed in characterizing fetal posterior fossa malformations with transabdominal ultrasound

2019 ◽  
Vol 40 (2) ◽  
pp. 282-282
Keyword(s):  
Posterior Fossa ◽  
Transabdominal Ultrasound ◽  
Posterior Fossa Malformations

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

2020 ◽  
Author(s):  
Siddaramappa J. Patil ◽  
Shruti Pande ◽  
Jyoti Matalia ◽  
Venkatraman Bhat ◽  
Minal Kekatpure ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Facial Dysmorphism ◽  
Ocular Manifestations ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Posterior Fossa Malformations ◽  
Midline Cleft

AbstractKnobloch 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.

scholarly journals Hydrocephalus and Dandy- Walker Malformation: a review

2020 ◽  
Vol 2 (3(September-December)) ◽  
pp. e442020
Author(s):  
Patricia Alessandra Dastoli Dastoli ◽  
Jardel Mendonça Nicácio ◽  
Marcos Devanir Silva Da Costa ◽  
Italo Capraro Suriano ◽  
Marcia Cristina Da Silva ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Correct Diagnosis ◽  
Lateral Sinus ◽  
Dandy Walker Malformation ◽  
Superior Dislocation ◽  
Posterior Fossa Malformations ◽  
Magnetic Resonance Imaging Mri ◽  
Hydrocephalus Treatment ◽  
Walker Malformation ◽  
Posterior Fossa Malformation

Introduction: Dandy Walker malformation (DWM) is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle leading to an increase of the posterior fossa and superior dislocation of the lateral sinus, tentorium and torcula. Although it is the commonest posterior fossa malformation, its pathogenesis is still not fully understood, making the differential diagnosis with other posterior fossa malformations difficult and as a result the choice of therapeutic strategy. Material and methods: An extensive review of the literature relating to Dandy Walker malformation was performed. Historical, genetic, embryologic, epidemiologic, clinical and radiological presentation, treatment and prognosis were revised. Conclusion: The correct diagnosis of Dandy Walker malformation can be made through careful interpretation of magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) flow studies.  The choice of hydrocephalus treatment depends on whether there is aqueduct stenosis.  And, although ventriculoperitoneal (VP) shunts have been the treatment of choice for many years, neuroendoscopic techniques such as endoscopic thirdventriculostomy and stent placement are being frequently performed lately.

Basic Genetic Principles Applied to Posterior Fossa Malformations

2011 ◽  
Vol 22 (6) ◽  
pp. 261-270
Author(s):  
Renato Hoffmann Nunes ◽  
Ingrid Aguiar Littig ◽  
Antonio Jose da Rocha ◽  
Leonardo Vedolin
Keyword(s):  
Posterior Fossa ◽  
Posterior Fossa Malformations

Fetal Magnetic Resonance Imaging of the Posterior Fossa Malformations

2011 ◽  
Vol 22 (6) ◽  
pp. 271-281 ◽  
Author(s):  
Salil Soman ◽  
Gerlinde Maria Gruber ◽  
Daniela Prayer ◽  
Scott W. Atlas
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Posterior Fossa ◽  
Resonance Imaging ◽  
Fetal Magnetic Resonance Imaging ◽  
Posterior Fossa Malformations

Posterior Fossa Malformations

2011 ◽  
Vol 32 (3) ◽  
pp. 228-241 ◽  
Author(s):  
Karuna Shekdar
Keyword(s):  
Posterior Fossa ◽  
Posterior Fossa Malformations

Proximal exertional tremor in posterior fossa malformations

2001 ◽  
Vol 16 (5) ◽  
pp. 976-979 ◽  
Author(s):  
Mario-Ubaldo Manto ◽  
Jean Jacquy
Keyword(s):  
Posterior Fossa ◽  
Posterior Fossa Malformations

Association of facial hemangiomas with Dandy-Walker and other posterior fossa malformations

1993 ◽  
Vol 122 (3) ◽  
pp. 379-384 ◽  
Author(s):  
Vail Reese ◽  
Ilona J. Frieden ◽  
Amy S. Paller ◽  
Nancy B. Esterly ◽  
Donna Ferriero ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Posterior Fossa Malformations

scholarly journals OC58: Clinical significance of fetal posterior fossa malformations

2006 ◽  
Vol 28 (4) ◽  
pp. 375-375
Author(s):  
A. Carletti ◽  
G. Tani ◽  
T. Ghi ◽  
G. Gandolfi Colleoni ◽  
G. Contratti ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Posterior Fossa ◽  
Posterior Fossa Malformations

Diffusion Tensor Imaging and Fiber Tractography of Pediatric Posterior Fossa Malformations

Neurographics ◽  
2017 ◽  
Vol 7 (4) ◽  
pp. 243-261 ◽  
Author(s):  
A. Meoded ◽  
T. Bosemani ◽  
E. Boltshauser ◽  
I. Scheer ◽  
T.A.G.M. Huisman ◽  
...  
Keyword(s):  
Diffusion Tensor Imaging ◽  
Posterior Fossa ◽  
Diffusion Tensor ◽  
Fiber Tractography ◽  
Posterior Fossa Malformations
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