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Journal of Pediatric Neurology
DOI: 10.1055/s-0044-1786778
Special Issue Article

Introduction: A Practical Guide to Central Nervous System Malformations—From Genetics, to Diagnosis and Treatment

Andrea D. Praticò
1   Chair of Pediatrics, Department of Medicine and Surgery, Kore University, Enna, Italy
,
Agata Polizzi
2   Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy
,
Martino Ruggieri
3   Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
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Abstract

Central nervous system (CNS) malformations encompass diverse congenital anomalies impacting brain and spinal cord development, profoundly affecting neurological function. They arise from disruptions in embryonic neural tube formation, neuronal migration, and cortical organization. This abstract provides a comprehensive overview of CNS malformations, covering classification, etiology, clinical manifestations, and diagnostic challenges. CNS malformations fall into distinct groups: neural tube defects (e.g., anencephaly, spina bifida), resulting from incomplete neural tube closure; malformations of cortical development (e.g., lissencephaly, polymicrogyria), featuring irregularities in cortical folding; and anomalies affecting structures like the corpus callosum, cerebellum, and CNS vasculature, alongside conditions such as hydrocephalus and Chiari malformations. Genetic factors, including mutations in LIS1, DCX, and RELN, contribute significantly, while environmental factors like maternal folic acid deficiency also play a role. Some malformations occur in genetic syndromes (e.g., tuberous sclerosis, neurofibromatosis). Clinical presentations vary, with neural tube defects typically presenting severe deficits at birth, while cortical malformations manifest as intellectual disabilities, seizures, and motor deficits. Hydrocephalus elevates intracranial pressure, and Chiari malformations cause headaches and neurological symptoms. Diagnosis necessitates a multidisciplinary approach involving clinical evaluation, neuroimaging, genetic testing, and histopathological analysis. Prenatal diagnosis via ultrasound and magnetic resonance imaging is crucial for planning interventions, while postnatal diagnosis relies on clinical and imaging findings.

Understanding CNS malformations is vital for early detection, intervention, and comprehensive care provision. Advances in genetics and neuroimaging offer hope for improved outcomes and better quality of life for affected individuals.

Keywords

central nervous system malformations - neuronal migration - synapses - environmental factors - classification - epidemiology - genetics - diagnosis - treatment


Publication History

Received: 27 November 2023

Accepted: 04 April 2024

Article published online:
11 May 2024

© 2024. Thieme. All rights reserved.

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