Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation

Stoecklein, Sophia; Haberler, Christine; Gruber, G.M.; Diogo, Mariana Cardoso; Ulm, Barbara; Laccone, Franco; Prayer, Daniela

doi:10.1002/uog.18991

Cited by 4 publications

(7 citation statements)

References 5 publications

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“…Another report Stoecklein et al Eisenbiegler and Brown: Three Generations of PVNH www.karger.com/crn © 2021 The Author(s). Published by S. Karger AG, Basel DOI: 10.1159/000519507 [5] described 2 pregnancies in the same patient, each with a fetus with bilateral PVNH and megacisterna magna, identified with fetal MRI. Both fetuses had inherited an FLNA mutation from the clinically normal mother, prompting neuroimaging of the mother, which revealed PVNH [5].…”

Section: Discussionmentioning

confidence: 99%

“…Genetic testing of the fetus identified the same FLNA mutation, but, unfortunately, studies of X-chromosome inactivation skewing were not performed [ 4 ]. Another report Stoecklein et al [ 5 ] described 2 pregnancies in the same patient, each with a fetus with bilateral PVNH and megacisterna magna, identified with fetal MRI. Both fetuses had inherited an FLNA mutation from the clinically normal mother, prompting neuroimaging of the mother, which revealed PVNH [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

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Three Generations of FLNA-Associated Periventricular Nodular Heterotopia

Eisenbiegler

Brown

2021

Case Rep Neurol

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We present a family with 3 generations of FLNA gene-associated periventricular nodular heterotopia (PVNH), with a unique presentation in a fetus with multiple neurologic malformations. Neurologic abnormalities were noted on routine fetal imaging for a 33-year-old G1P0 woman; absence of the corpus callosum and PVNH was confirmed on follow-up MRI. This prompted genetic evaluation, revealing a nonsense mutation in the FLNA gene. Familial genetic analysis and neuroimaging revealed the same variant and MRI evidence of PVNH in the fetus’s asymptomatic mother, and maternal grandmother, who had a long history of seizure disorder. Such phenotypic variability within a single family demonstrates the spectrum of PVNH and the importance of genetic counseling for patients with PVNH. This case also adds to existing literature on the rare but not unique presentation of FLNA-associated fetal malformations.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Three Generations of FLNA-Associated Periventricular Nodular Heterotopia

Eisenbiegler

Brown

2021

Case Rep Neurol

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“…A number of cases of PNH have been documented, but without associated focal cortical dysplasia 2,4–6 …”

Section: Figurementioning

confidence: 99%

“…A number of cases of PNH have been documented, but without associated focal cortical dysplasia. 2,[4][5][6] Every nodule appears to be potentially epileptogenic, although some may remain inactive. SEEG investigation is mandatory in order to investigate PNH and the "mirroring" cortex in the hope of isolating a surgically accessible epileptogenic zone.…”

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confidence: 99%

Bilateral periventricular nodular heterotopia and cortical dysplasia due to filamin 1 gene mutation: An invasive EEG exploration and histopathologic study

Poulen,

Mercedes‐Alvarez,

Rigau

et al. 2023

Epileptic Disorders

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“…We read with great interest the Letter to the Editor of Dr Stoecklein and colleagues reporting on a case of X‐linked bilateral periventricular nodular heterotopia detected on magnetic resonance imaging (MRI). The Letter raises two main comments.…”

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confidence: 99%

Re: Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation

Garel

Jouannic

Blondiaux

2019

Ultrasound in Obstet & Gyne

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We read with great interest the Letter to the Editor of Dr Stoecklein and colleagues reporting on a case of X-linked bilateral periventricular nodular heterotopia detected on magnetic resonance imaging (MRI) 1 . The Letter raises two main comments.Firstly, it should be borne in mind that subependymal nodular heterotopia (SENH) may be diagnosed in the prenatal period using also ultrasound, by depicting irregular and square-shaped frontal horns and bodies of the lateral ventricles 2 . This is of importance as access to MRI may be limited in some centers. The authors stress that SENH is commonly overlooked by prenatal ultrasound and cite two studies, one that was published in 1986 3 and another carried out by our group 4 , which focuses on the correlation between pre-and postnatal cerebral MRI. It should be noted that, in the latter article, no case of diffuse and bilateral SENH was overlooked by ultrasound; the discrepancies between pre-and postnatal imaging involved only cases of single or few heterotopia. However, such a diagnosis remains challenging and, even

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Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation

Cited by 4 publications

References 5 publications

Three Generations of FLNA-Associated Periventricular Nodular Heterotopia

Three Generations of FLNA-Associated Periventricular Nodular Heterotopia

Bilateral periventricular nodular heterotopia and cortical dysplasia due to filamin 1 gene mutation: An invasive EEG exploration and histopathologic study

Re: Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation

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