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Journal of Pediatric Neurology
DOI: 10.1055/s-0044-1786793
Special Issue Article

Schizencephaly: Etiopathogenesis, Classification, Therapeutic, and Rehabilitative Approach

Monica Tosto‡   *
1   Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy
,
Valeria Fichera‡   *
1   Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy
,
Antonio Zanghì‡   *
2   Research Center for Surgery of Complex Malformation Syndromes of Transition and Adulthood, Department of Medical and Surgical Sciences and Advanced Technologies, University of Catania, Catania, Italy
,
Andrea D. Praticò
3   Division of Pediatrics, Department of Medicine and Surgery, Kore University, Enna, Italy
,
Michele Vecchio
4   Rehabilitation Unit, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy
,
Stefano Palmucci
5   IPTRA Unit, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Giuseppe Belfiore
6   Department of Medical Surgical Sciences and Advanced Technologies, Unit of Radiology 1, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Pietro Foti
6   Department of Medical Surgical Sciences and Advanced Technologies, Unit of Radiology 1, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Claudia Di Napoli
7   Division of Pediatrics, Department of Medicine and Surgery, Kore University, Enna, Italy
,
Agata Polizzi
8   Division of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy
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Abstract

Schizencephaly is an uncommon anomaly in neuronal migration characterized by complete clefts that extend from the pia mater to the ependymal surface of the ventricular system. These clefts are encompassed by displaced gray matter and filled with cerebrospinal fluid. Typically, they are found most often in the frontal lobe or the area around the lateral sulcus and can occur on one or both sides. The size, location, and type of these clefts carry significant clinical and prognostic implications. Moreover, they are frequently associated with other central nervous system malformations, including the absence of the septum pellucidum, septo-optic dysplasia, optic nerve hypoplasia, pachygyria, polymicrogyria, cortical dysplasia, heterotopia, and dysplasia of the corpus callosum. Occurrence of schizencephaly is almost always sporadic but its etiopathogenesis is yet to be fully understood. Most likely environmental factors, including exposure to teratogens, viral infections, and maternal factors, operate jointly with genetic defects. To date COL4A1, EMX2, SHH, and SIX3 are the genes identified as possible pathogenetic target. It is interesting to notice that schizencephaly is commonly seen in abandoned or adopted children, as proof of causative effect of intrautero insults. Clinical presentations widely vary and symptoms include a spectrum of cognitive impairment, limb paresis/tetraparesis, and epileptic seizures either with early or late onset; anyway, none of these symptoms is ever-present and patients with schizencephaly can also have normal neurocognitive and motor development. Diagnostic gold standard for schizencephaly is magnetic resonance imaging, which allows to identify and characterize typical clefts. Treatment of schizencephaly is symptomatic and supportive and depends on the severity of morbidity resulting from the malformation. Therapy includes antiepileptic drugs, psychomotor rehabilitation, and in selected cases surgical approach.

Keywords

developmental neurobiology - migration - environmental factors - genetics

* These authors contributed equally to this article.




Publication History

Received: 05 December 2023

Accepted: 04 April 2024

Article published online:
11 May 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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