Case Report and Literature Review-From Ultrasound to Genotype: Periventricular Nodular Heterotopia
B Novillo-Del Álamo1,2, R Gómez-Portero1, A Martínez-Varea1,2
1Department of Obstetrics and Gynecology, La Fe University and Polytechnic Hospital, Valencia, Spain, hospital-lafe.com.
Background And Aims:
Periventricular nodular heterotopia is an unusual disorder caused by a neuronal migration disorder.
Methods:
A case report and narrative review of the literature were carried out.
Results:
This pathology involves multiple systemic manifestations, mainly neurological (seizures) and cardiovascular (valve insufficiency). Only 186 periventricular nodular heterotopia patients have been described in the literature. The present case report is one of the scarce cases diagnosed prenatally by ultrasound. Postnatal genetic test revealed the newborn was heterozygous for the FLNA gene variant mutation, associated with an X-linked dominant inheritance pattern with ventricular heterotopia.
Conclusion:
This study underlines that comprehensive prenatal diagnosis helps with paternal counseling, newborn management, and preconception counseling.
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