Introduction

Encephalocele is a rare but severe congenital anomaly which belongs to the spectrum of neural tube defects. It is characterised by the protrusion of brain tissue and meninges through a defect in the skull. The condition presents significant clinical challenges, often leading to high rates of mortality and long-term neurological disability. While there are many underlying causes, including genetic, nutritional and environmental influences, the impact of encephalocele is strongly shaped by regional and socioeconomic factors.

Globally, encephalocele contributes to the burden of neonatal morbidity and mortality, with striking disparities between high-income countries, where early diagnosis and surgical correction are often available, and low- and middle-income countries, where limited access to prenatal screening and specialist care worsens outcomes. Understanding the prevalence, mortality patterns and inequities in access to care is therefore essential to address this condition from both clinical and public health perspectives.

Epidemiology & Prevalence

Encephalocele¹ is a rare neural tube defect, with global incidence estimates ranging from approximately 1 in 5,000 to 1 in 10,000 live births. However, prevalence varies widely across regions, largely influenced by socioeconomic status, maternal health, and public health interventions.² Low- and middle-income countries (LMICs) generally report higher rates, partly due to limited access to folic acid supplementation, lower rates of prenatal screening and environmental risk factors. In contrast, high-income countries have seen a decline in prevalence, driven by folic acid fortification programs, improved maternal nutrition and enhanced prenatal care.

Several risk factors contribute to the occurrence of encephalocele. Maternal folate deficiency is a common contributor, as well as genetic predispositions in certain populations. Environmental influences, including exposure to toxins, infections during pregnancy and poor maternal nutrition, further increase risk. Additionally, socioeconomic factors, such as limited access to healthcare and education, play a significant role in shaping prevalence patterns.

Understanding these epidemiological trends is critical for identifying high-risk populations and informing targeted interventions aimed at prevention, early detection and timely management of encephalocele globally.

Mortality and morbidity

Encephalocele is associated with significant mortality and long-term morbidity. Outcomes are strongly influenced by the size, location and content of the herniated sac, as well as the availability of timely medical and surgical care. Mortality rates are particularly high in low- and middle-income countries, where delayed diagnosis, limited access to neurosurgical expertise, and inadequate neonatal intensive care contribute to poor survival. In contrast, high-income countries report lower mortality due to early detection through prenatal screening and prompt surgical intervention after birth.

Morbidity among survivors can be substantial. Neurological complications such as hydrocephalus, seizures, developmental delays and motor deficits are common, often requiring ongoing medical care and rehabilitation. The degree of functional impairment depends on the involvement of brain tissue within the encephalocele and the presence of associated congenital anomalies, including craniofacial defects and other neural tube defects.

The factors that determine survival and long-term outcomes include the encephalocele’s size and location, the presence of viable brain tissue in the sac, and the availability of comprehensive multidisciplinary care. Early surgical repair combined with supportive therapies can significantly improve both survival and quality of life, highlighting the critical role of timely access to specialised medical care.

Access to care

Access to timely and effective care for encephalocele varies dramatically between high-income countries and low- and middle-income countries (LMICs), contributing to disparities in survival and long-term outcomes.

In high-income settings, prenatal screening through ultrasound allows early detection of encephalocele. Early diagnosis facilitates planned delivery at specialised centers and prompts surgical correction, often within the first days of life. Multidisciplinary care teams, including neurosurgeons, neonatologists and rehabilitation specialists, further improve outcomes. Health interventions, such as folic acid supplementation and food fortification, have contributed to reductions in both prevalence and severity.

In contrast, LMICs often face significant barriers. Prenatal detection is limited due to scarce imaging resources and low awareness, leading to delayed or missed diagnoses. Even when surgery is possible, inadequate postoperative care and limited access to neonatal intensive care units increase the risk of complications and mortality. Financial constraints and lack of insurance coverage further restrict access to essential care.

Disparities also exist within countries. Urban areas with specialised hospitals typically offer better outcomes than rural regions, and socioeconomic status can influence the timeliness and quality of care received. Addressing these inequities is critical, not only through expanding healthcare infrastructure and surgical capacity but also through public health initiatives focused on prevention, maternal education and equitable resource allocation.

Global public health implications

The disparities in prevalence, mortality and access to care for encephalocele emphasise its importance as a global public health concern. Preventive strategies, particularly folic acid supplementation, have proven effective in reducing the incidence of neural tube defects and should be prioritised worldwide, especially in low- and middle-income countries.

Strengthening maternal health services and expanding access to prenatal screening are essential for early detection, enabling timely intervention and improved survival. Increasing the availability of specialised neurosurgical care, neonatal intensive care, and multidisciplinary rehabilitation is crucial to reducing morbidity and enhancing long-term outcomes for affected infants.

Global initiatives, such as collaborations between international health organisations, governments and non-governmental organisations, can help bridge the gaps in surgical capacity, healthcare infrastructure and community awareness. Addressing socioeconomic and geographic disparities is equally important to ensure equitable access to care and to mitigate the burden of encephalocele worldwide.

Conclusion

Encephalocele remains a rare but serious congenital condition with significant global variation in prevalence, mortality and access to care. High-income countries benefit from early detection, advanced surgical interventions and preventive measures such as folic acid supplementation, resulting in improved survival and reduced morbidity. In contrast, low- and middle-income countries face higher prevalence and mortality due to limited prenatal screening, scarce surgical resources and financial and geographic barriers.

Addressing these disparities requires a multifaceted approach, including strengthening maternal health services, expanding access to prenatal and surgical care and implementing public health interventions to prevent neural tube defects. Collaborative global efforts are essential to reduce the burden of encephalocele, improve outcomes for affected children, and ensure equitable access to care worldwide.

Summary 

• Encephalocele is a rare neural tube defect involving the protrusion of brain tissue and meninges through a skull defect
• Global prevalence is estimated at 1 in 5,000-10,000 live births, with higher rates in low- and middle-income countries due to limited prenatal care and nutritional deficiencies
• Risk factors include maternal folate deficiency, genetic predisposition, environmental exposures and socioeconomic status
• Mortality is high in low- and middle-income countries
• Public health strategies such as folic acid supplementation, improved maternal health services, expanded surgical care, and addressing inequities are essential
• Reducing the global burden of encephalocele requires coordinated prevention, equitable healthcare access and targeted public health interventions