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Updated: Jan 23, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Periventricular Nodular Heterotopia, Cerebellar Hypodysgenesis, and Mesial Temporal Malformation Detected on Fetal

Vivek Pai1,2, Shiri Shinar3, Pradeep Krishnan4,2

  • 1From the Division of Neuroradiology (V.P., P.K., S.B., E.M.), Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, Toronto, Ontario, Canada vivek.pai@sickkids.ca.

AJNR. American Journal of Neuroradiology
|January 21, 2026
PubMed

Insights

Periventricular nodular heterotopia (PNH) can occur without FLNA gene variants, presenting distinct brain abnormalities. This review highlights prenatal MRI findings of PNH with cerebellar hypodysgenesis and malformation of cortical development.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Radiology

Background:

  • Periventricular nodular heterotopia (PNH) is a neuronal migration disorder.
  • It is often linked to filamin-A (FLNA) gene variants.
  • However, PNH can occur independently of FLNA variants, suggesting other genetic or developmental factors.

Purpose of the Study:

  • To review the association between PNH, cerebellar hypodysgenesis (CHD), and malformation of cortical development (MCD).
  • To describe the distinct infrasylvian lateral ventricular distribution of PNH in this context.
  • To report prenatal MRI findings of this under-recognized condition.

Main Methods:

  • Literature review focusing on PNH, CHD, and MCD.
  • Analysis of prenatal MRI findings in reported cases.
  • Correlation of imaging findings with genetic data (or lack thereof).

Main Results:

  • PNH can present with CHD and MCD, particularly involving mesial temporal lobes, without FLNA variants.
  • A characteristic infrasylvian lateral ventricular distribution of PNH is observed in these cases.
  • Prenatal MRI is crucial for identifying this specific pattern of abnormality.

Conclusions:

  • The association of PNH, CHD, and MCD without FLNA variants represents a distinct neurodevelopmental entity.
  • Prenatal MRI is valuable for diagnosing this condition.
  • Further research is needed to elucidate the underlying genetic and developmental mechanisms.

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