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Journal of Pediatric Neurology 2024; 22(05): 321-331
DOI: 10.1055/s-0044-1786772
Review Article

Periventricular Heterotopias: Neuroependymal Abnormalities

Giuseppe Costanza   *
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   Department of Medical and Surgical Sciences and Advanced Technologies, Research Center for Surgery of Complex Malformation Syndromes of Transition and Adulthood, University of Catania, Catania, Italy
,
Agata Polizzi
3   Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy
,
Raffaele Falsaperla
4   Neonatology and Neonatal Intensive Care Unit, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Michele Vecchio
5   Rehabilitation Unit, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy
,
Stefano Palmucci
6   IPTRA Unit, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Giuseppe Belfiore
7   Unit of Radiology 1, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Emanuele David
7   Unit of Radiology 1, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Andrea D. Praticò
8   Chair of Pediatrics, Department of Medicine and Surgery, Kore University, Enna, Italy
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Abstract

Periventricular nodular heterotopia (PVNH) is a group of malformation of cortical development characterized by ectopic neuronal nodules, located along the lateral ventricles. Magnetic resonance imaging can identify gray matter nodules located in wall of ventricles, which appear as island having the same signal of gray matter within white matter. The symptomatological spectrum is various, but the most common clinical presentation is with epileptic seizures, often a drug-resistant type. Features as severity, age of presentation, and associated malformations depend on the underlying etiology. From a genetic point of view, FLNA1 and ERMARD are acknowledged to be the main target of mutations that cause PVNH, although recently many other genes have shown a clear pathogenetic involvement. PVNH may manifest as a solitary discovery in brain imaging or present in conjunction with various other brain or systemic abnormalities. The diagnosis of PVNH is mainly carried out with electroneurophysiological and neuroimaging examinations, while the etiological diagnosis is made with genetic investigations. Treatment consists of use of anticonvulsant drugs, but no significant difference exists among them. In addition, frequently, PVNH-related seizures show poor response to drug, leading to requirement for surgical treatment, performed taking advantages from stereotactic ablative techniques that have a meaningful impact on surgical outcome.

Keywords

epilepsy - malformation of cortical development - periventricular heterotopias - genetics

* These authors have equally contributed to this article.




Publication History

Received: 18 December 2023

Accepted: 03 April 2024

Article published online:
29 May 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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