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.
Periventricular nodular heterotopia, a rare neuronal migration disorder, presents with neurological and cardiovascular issues. Early prenatal diagnosis is crucial for effective management and genetic counseling.
Area of Science:
- Neurology
- Genetics
- Medical Imaging
Background:
- Periventricular nodular heterotopia is a rare neuronal migration disorder.
- It is characterized by neurological and cardiovascular manifestations, including seizures and valve insufficiency.
Purpose of the Study:
- To report a rare case of periventricular nodular heterotopia diagnosed prenatally.
- To review the literature on this condition and its management.
Main Methods:
- A case report of a patient with periventricular nodular heterotopia.
- A narrative literature review was conducted.
Main Results:
- The case presented is one of the few periventricular nodular heterotopia cases diagnosed prenatally via ultrasound.
- Genetic testing identified an FLNA gene variant, indicating X-linked dominant inheritance.
- The condition involves systemic manifestations, primarily neurological and cardiovascular.
Conclusions:
- Comprehensive prenatal diagnosis is vital for periventricular nodular heterotopia.
- It facilitates paternal and preconception counseling.
- It aids in effective newborn management.
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