Congenital Brain Malformations in the Neonatal and Early Infancy Period

Kim, Christine; Yeom, Kristen W.; Michael, Cassia

doi:10.1053/j.sult.2015.01.003

Cited by 9 publications

(7 citation statements)

References 55 publications

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“…CNSMs can be classified into various categories based on their specific characteristics and location. Here is a broad classification of CNS malformations, reported also in Table 2 1 2 3 4 5 9 16 :…”

Section: Classifications Of Central Nervous System Malformationsmentioning

confidence: 99%

“…[1][2][3] This comprehensive introduction will delve into the world of CNSMs, exploring the genetic factors that underlie their development, the diagnostic methods used to identify them, and the evolving treatment strategies that offer hope to those affected by these conditions. 4,5 The Complexity of the Central Nervous System…”

Section: Introductionmentioning

confidence: 99%

“…The CNS orchestrates our body's most vital functions, making any abnormalities in its structure or function a matter of great concern. [1][2][3][4][5][6] Central Nervous System Malformations: An Overview CNSMs, often referred to as congenital or developmental brain anomalies, encompass a wide range of structural abnormalities that occur during fetal development or shortly after birth. These malformations can affect various aspects of the CNS, including the brain, spinal cord, and their associated structures.…”

Section: Introductionmentioning

confidence: 99%

“…Their origins are multifactorial and may involve genetic, environmental, or a combination of factors. 1,[4][5][6]…”

Section: Introductionmentioning

confidence: 99%

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

Praticò,

Polizzi,

Ruggieri

2024

Journal of Pediatric Neurology

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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.

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Section: Classifications Of Central Nervous System Malformationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Their origins are multifactorial and may involve genetic, environmental, or a combination of factors. 1,[4][5][6]…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Praticò,

Polizzi,

Ruggieri

2024

Journal of Pediatric Neurology

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“…The clinical presentation of CNS malformations includes developmental delay, cognitive impairment, epilepsy, autism spectrum disorders, and motor and sensory impairment, et al [7,11]. Some severe CNS malformations can even cause deaths in fetuses and children [12][13][14][15]. There have been studies focusing on the risk factors for CNS malformations.…”

Section: Introductionmentioning

confidence: 99%

Congenital central nervous system malformations in Hunan Province, China, 2016-2020

Zhou

Xie

Peng

et al. 2023

Preprint

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Background This study aimed to analyze the epidemiological characteristics of congenital central nervous system (CNS) malformations, provide some information for intervention programs to reduce the incidence of CNS malformations. Methods Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020. Incidences of CNS malformations (number of cases per 1000 fetuses (births and deaths at 28 weeks of gestation and beyond)) with 95% confidence intervals (CI) were calculated by year, gender, residence, and maternal age. Crude odds ratios (ORs) were calculated to examine the association of each maternal characteristic with CNS malformations. Results A total of 847755 fetuses (births and deaths)were registered, and 23420 birth defects were identified, including 1484 CNS malformations (which accounted for 6.34% of all birth defects). The incidence of CNS malformations was 1.75‰ (95%CI: 1.66,1.84). The incidence of CNS malformations at 28 weeks of gestation and beyond was 0.35‰ (95%CI: 0.31,0.39) (297 cases). The most frequent CNS malformations were hydrocephalus (462 cases, 31.13%), anencephaly (243 cases, 16.37%), spina bifida (220 cases, 14.82%), encephalocele (184 cases, 12.4%), holoprosencephaly (132 cases, 8.89%), cerebellar malformation (91 cases, 6.13%), corpus callosum agenesis (85 cases, 5.73%). CNS malformations were more common in males than females (1.53‰ vs. 1.28‰, OR=1.20, 95%CI: 1.07-1.34). Anencephaly (0.19‰ vs. 0.12‰, OR=1.59, 95%CI: 1.11-2.28) and corpus callosum agenesis (0.12‰ vs. 0.07‰, OR=1.69, 95%CI: 1.07-2.67) were more common in males than females, too. Holoprosencephaly was more common in urban than rural areas (0.19‰ vs. 0.13‰, OR=1.43, 95%CI: 1.02-2.02). Compared to mothers 25-29 years old, mothers <20 years old (OR=1.80, 95%CI: 1.31-2.46), 20-24 years old (OR=1.18, 95%CI: 1.01-1.37), and ≥35 years old (OR=1.17, 95%CI: 1.01-1.37) were risk factors for CNS malformations; And mothers <20 years old was a risk factor for anencephaly (OR=2.51, 95%CI: 1.31-4.80) and encephalocele (OR=2.73, 95%CI: 1.37-5.43); Mothers 20-24 years old (OR=1.41, 95%CI: 1.09-1.82) or ≥35 years old (OR=1.39, 95%CI: 1.07-1.81) were risk factors for hydrocephalus. The pregnancy outcomes of most CNS malformations were deaths (1421 cases, 95.75%), and most CNS malformations-related deaths were therapeutic terminations (98.45%, 1399/1421). Conclusion In summary, we have described the epidemiological characteristics of CNS malformations. Several mechanisms have been proposed to explain these phenomena. Our study is of great significance for CNS malformation intervention programs to reduce the incidence of CNS malformations.

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