Laminar pattern disruption in fetal incipient polymicrogyria: insights from post-mortem magnetic resonance imaging and neuropathological correlation

BACKGROUND: Polymicrogyria is a heterogeneous cortical malformation resulting from disruption of multiple processes of cortical development, either genetically determined or acquired. OBJECTIVE: To characterize early imaging and histopathological features of incipient polymicrogyria in fetuses at early gestational age and correlate radiological patterns with underlying etiopathogenic mechanisms. MATERIALS AND METHODS: Four fetuses at 21 weeks' gestational age with suspected polymicrogyria on fetal magnetic resonance imaging underwent post-mortem magnetic resonance imaging (PMMRI) and detailed neuropathological examination, including immunohistochemistry (NeuN, NSE, GFAP, MBP, CD3, CD68). Imaging and histological findings were systematically compared. RESULTS: Distinct imaging-histopathological patterns were identified according to etiology (ischemic, infectious, genetic). Key differentiating features included symmetry of involvement, cerebral surface appearance, integrity of the pial basement membrane, laminar pattern alterations, and associated anomalies. CONCLUSION: Combined PMMRI and neuropathology enable early characterization of polymicrogyria and provide insights into its etiopathogenesis, improving differential diagnosis and genetic counseling.

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Publication Details

Journal
Pediatric Radiology
Published
2026-09-05
DOI
https://doi.org/10.1007/s00247-026-06770-4
Primary Topic
Fetal and Pediatric Neurological Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

Laminar pattern disruption in fetal incipient polymicrogyria: insights from post-mortem magnetic resonance imaging and neuropathological correlation

Andrea Righini, Giana Izzo, F. Tortora, Chiara Doneda et al.
Pediatric Radiology
Fetal and Pediatric Neurological Disorders
article

Laminar pattern disruption in fetal incipient polymicrogyria: insights from post-mortem magnetic resonance imaging and neuropathological correlation

Andrea Righini, Giana Izzo, F. Tortora, Chiara Doneda, Valentina Toto, Cecilia Parazzini, Filippo Arrigoni, Mariano Lanna, Mario Tortora
article en

Abstract

BACKGROUND: Polymicrogyria is a heterogeneous cortical malformation resulting from disruption of multiple processes of cortical development, either genetically determined or acquired. OBJECTIVE: To characterize early imaging and histopathological features of incipient polymicrogyria in fetuses at early gestational age and correlate radiological patterns with underlying etiopathogenic mechanisms. MATERIALS AND METHODS: Four fetuses at 21 weeks' gestational age with suspected polymicrogyria on fetal magnetic resonance imaging underwent post-mortem magnetic resonance imaging (PMMRI) and detailed neuropathological examination, including immunohistochemistry (NeuN, NSE, GFAP, MBP, CD3, CD68). Imaging and histological findings were systematically compared. RESULTS: Distinct imaging-histopathological patterns were identified according to etiology (ischemic, infectious, genetic). Key differentiating features included symmetry of involvement, cerebral surface appearance, integrity of the pial basement membrane, laminar pattern alterations, and associated anomalies. CONCLUSION: Combined PMMRI and neuropathology enable early characterization of polymicrogyria and provide insights into its etiopathogenesis, improving differential diagnosis and genetic counseling.

Pediatric Radiology
University of Milan (IT), Ospedale San Paolo (IT), Federico II University Hospital (IT), Ospedale dei Bambini Vittore Buzzi (IT), University of Naples Federico II (IT)
Università degli Studi di Napoli Federico II
Good health and well-being
Openalex Percentile: Top 7%
Fetal and Pediatric Neurological Disorders
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