Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

Saletti, Veronica; Susan, Esposito; Maccaro, Angelo; Giglio, Sabrina; Valentini, Laura; Chiapparini, Luisa

doi:10.1016/j.ejmg.2017.03.002

Cited by 14 publications

(5 citation statements)

References 24 publications

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“…White matter abnormalities have also been identified in MRI studies of patients with PTEN mutations without ASD (Vanderver et al 2014). MRI investigations of the broader PTEN population have also found vascular anomalies (Lok et al 2005;Ciaccio et al 2018), enlarged periventricular spaces (Vanderver et al 2014;Ciaccio et al 2018), cerebellar overgrowth/Lhermitte-Duclos (Lok et al 2005), cortical dysplasia (Adachi et al 2018), and Chiari 1 malformation (Saletti et al 2017;Ciaccio et al 2018). It remains unclear whether the exact pattern of MRI abnormalities will differ when ASD, ID, or other neurodevelopmental disorders are present as part of the phenotypic picture.…”

Section: Pten-asd Molecular Findings and Brain Pathologymentioning

confidence: 98%

Autism Spectrum Disorder Associated with Germline Heterozygous PTEN Mutations

Frazier

2019

Cold Spring Harb Perspect Med

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Section: Pten-asd Molecular Findings and Brain Pathologymentioning

confidence: 98%

Autism Spectrum Disorder Associated with Germline Heterozygous PTEN Mutations

Frazier

2019

Cold Spring Harb Perspect Med

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“…On these grounds, autistic children who are symptomatic for CM1 and who undergo successful surgery can show an improvement in their cognitive and behavioral performances, but this results from the reduction of pain or other misdiagnosed symptoms. Some reports investigating the role of genetic mutations in isolated cases showed that the association between CM1 and autism and/or epilepsy is occasional, except for very rare and specific syndromes [29][30][31][32]. According to the experience of some panelists, the ventral compression of the basilar artery (due to dens malposition) may overt seizures or cognitive deficits related to raised ICP.…”

Section: Section 1-planning For Cm1 In Childrenmentioning

confidence: 99%

Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document

et al. 2021

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Background Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the diagnosis and treatment of CM1 in children. Methods A multidisciplinary panel formulated 57 provisional statements based on a review of the literature. Thirty-four international experts (IE) participated in a Delphi study by independently rating each statement on a 4-point Likert scale (“strongly disagree,” “disagree,” “agree,” “strongly agree”). Statements that were endorsed (“agree” or “strongly agree”) by < 75% of raters were re-formulated, or new statements were added, and another Delphi round followed (up to a maximum of three). Results Thirty-five IE were contacted and 34 agreed to participate. A consensus was reached on 30/57 statements (52.6%) after round 1. Three statements were added, and one removed. After round 2, agreement was reached on 56/59 statements (94.9%). Finally, after round 3, which took place during the 2019 Chiari Consensus Conference (Milan, Italy), agreement was reached on 58/59 statements (98.3%) about four main sections (Definition and Classification, Planning, Surgery, Isolated Syringomyelia). Only one statement did not gain a consensus, which is the “definition of radiological failure 24 month post-surgery.” Conclusions The consensus document consists of 58 statements (24 on diagnosis, 34 on treatment), serving clinicians and researchers following children with CM1. There is a clear need for establishing an international network and registry and to promote collaborative studies to increase the evidence base and optimize the long-term care of this patient population.

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“…9,[22][23][24][25][26][27] Other cases of patients with PTEN mutations and Chiari I malformation have been reported in the absence of LDD. 24 However, the presence of a space-occupying lesion in the posterior fossa is confounding, so it remains unknown as to whether the tonsillar descent is entirely acquired (secondary) or partially developmental. We found that 5 of 10 patients with CS with LDD and 2 of 11 patients with CS but no LDD had tonsillar ectopia.…”

Section: Cerebellar Tonsillar Herniation From Ldd Vs Chiari I Malformationmentioning

confidence: 99%

Neuroimaging abnormalities in patients with Cowden syndrome

et al. 2018

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It is important to recognize that in addition to Lhermitte-Duclos disease, other intracranial findings such as multiple venous anomalies, meningiomas, greater than expected white matter signal abnormality, prominent perivascular spaces, and cortical malformations may warrant a thorough evaluation for Cowden syndrome in the appropriate clinical setting. We further recommend that this broader spectrum of intracranial abnormalities be considered for addition to the Cowden syndrome diagnostic criteria at the time of next revision.

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Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

Cited by 14 publications

References 24 publications

Autism Spectrum Disorder Associated with Germline Heterozygous PTEN Mutations

Autism Spectrum Disorder Associated with Germline Heterozygous PTEN Mutations

Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document

Neuroimaging abnormalities in patients with Cowden syndrome

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