Three Generations of FLNA-Associated Periventricular Nodular Heterotopia
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 ca...
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| Veröffentlicht in: | Case Reports in Neurology 2021-12, Vol.13 (3), p.776-780 |
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| description | 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. |
| doi_str_mv | 10.1159/000519507 |
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| subjects | Asymptomatic Birth defects Care and treatment case report Case reports congenital neurologic malformation Convulsions & seizures Diagnosis Families & family life fetal mri Fetuses flna Genetic counseling Magnetic resonance imaging Medical genetics Medical imaging Methods Mutation Patients periventricular nodular heterotopia Pregnancy Proteins Risk factors Single Case – General Neurology Single Case − General Neurology Ultrasonic imaging X chromosomes |
| title | Three Generations of FLNA-Associated Periventricular Nodular Heterotopia |
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