Heterotopia komorowa związana z mutacją FLNA z zaangażowaniem wielonarządowym: opis przypadku
FLNA-related periventricular nodular heterotopia with multisystem involvement: a case report
W skrócie
[Preprint - wstępne wyniki] Heterotopia komorowa związana z genem FLNA to rzadka wada neurologiczna, która oprócz padaczki może powodować problemy z sercem, płucami i oczami. W pracy opisano przypadek kobiety, u której stwierdzono padaczkę, wady zaworów serca, chorobę płuc i zaburzenia widzenia. Autorzy podkreślają, że u pacjentów z tą chorobą konieczne są badania całego organizmu, a nie tylko mózgu, oraz systematyczna opieka kardiologiczna, pulmonologiczna i okulistyczna.
Oryginalny abstract (angielski)
Abstract Background FLNA-related periventricular nodular heterotopia (PVNH) is an X-linked neuronal migration disorder classically associated with epilepsy. Accumulating evidence indicates that it is a multisystem disorder involving cardiac valvular, pulmonary, and ophthalmologic manifestations. We report a patient with an unusually comprehensive multisystem phenotype to emphasize the need for systematic extracranial evaluation in FLNA-related PVNH. Case presentation: A 33-year-old woman presented with two decades of headache and palpitations. Physical examination revealed digital clubbing and prominently dilated cardiac valves. Brain MRI demonstrated bilateral periventricular heterotopia. Enhanced whole-exome sequencing identified a heterozygous pathogenic nonsense variant in FLNA (NM_001110556.2:c.2193C > G, p.Tyr731Ter). Multisystem involvement comprised focal epilepsy, polyvalvular regurgitation, interstitial lung disease, and ophthalmologic abnormalities. Seizures were controlled with oxcarbazepine and lamotrigine, and the patient was referred for coordinated cardiologic, pulmonary, and ophthalmologic follow-up. Conclusions FLNA-related PVNH should be managed as a multisystem disorder rather than isolated epilepsy. Routine cardiovascular, pulmonary, and ophthalmologic screening, combined with genetic counseling for X-linked dominant transmission, should be integrated into standard care.