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Neuropediatrics 2016; 47(04): 253-258
DOI: 10.1055/s-0036-1583185
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Familial Precocious Fetal Abnormal Cortical Sulcation

Carolina Frassoni   *
1   Clinical Epileptology and Experimental Neurophysiology Unit, Fondazione IRCCS, Istituto Neurologico “C. Besta,” Milano, Italy
,
Laura Avagliano   *
2   Department of Health Sciences, San Paolo Hospital Medical School, University of Milan, Milano, Italy
,
Francesca Inverardi
1   Clinical Epileptology and Experimental Neurophysiology Unit, Fondazione IRCCS, Istituto Neurologico “C. Besta,” Milano, Italy
,
Luigina Spaccini
3   Department of Obstetrics and Gynecology, Children's Hospital V. Buzzi, Milan, Italy
,
Cecilia Parazzini
4   Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy
,
Maria Angela Rustico
3   Department of Obstetrics and Gynecology, Children's Hospital V. Buzzi, Milan, Italy
,
Gaetano Bulfamante
2   Department of Health Sciences, San Paolo Hospital Medical School, University of Milan, Milano, Italy
,
Andrea Righini
4   Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy
› Author Affiliations
Further Information

Publication History

11 January 2016

02 March 2016

Publication Date:
13 May 2016 (online)

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Abstract

The development of the human cerebral cortex is a complex and precisely programmed process by which alterations may lead to morphological and functional neurological abnormalities. We report familial cases of prenatally diagnosed abnormal brain, characterized by aberrant symmetrical mesial oversulcation of the parietooccipital lobes, in fetuses affected by abnormal skeletal features. Fetal brain anomalies were characterized by prenatal magnetic resonance imaging at 21 weeks of gestation and histologically evaluated at 22 weeks. Histological examination added relevant information showing some focal cortical areas of micropoligyria and heterotopic extension of the cortical plate into the marginal zone beneath the cortical surface. Genetic analysis of the fetuses excluded FGFR3 mutations known to be related to skeletal dysplasia and aberrant symmetrical oversulcation in other brain areas (temporal lobes). Hence, the present report suggests the existence of a class of rare syndromes of skeleton and brain development abnormality unrelated to FGFR3 mutations or related to other not described FGFR3 gene defects. Using magnetic resonance imaging, histopathology and molecular characterization we provide an example of a translational study of a rare and unreported brain congenital malformation.

Keywords

cortical development - fetal brain - cortical infolding - fetal magnetic resonance - histopathology

* The authors Carolina Frassoni and Laura Avagliano have contributed equally to this work.


Supplementary Material

 

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