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Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
Biomarker and diagnostic research for isolated encephalocele has been reported in the published literature.
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
106 publications have been identified in PubMed for isolated encephalocele. Kisho has analyzed 50 by research type. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (26%), and Epidemiology / Natural History (18%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 20 |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 6:18 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies | 13 | 26% |
Disease patterns and progression | 9 | 18% |
Laboratory research | 4 | 8% |
Testing and diagnosis research | 3 | 6% |
Clinical study results | 1 | 2% |
Bounemra M (2026). [PMID: 41483181](https://pubmed.ncbi.nlm.nih.gov/41483181/). *Childs Nerv Syst*. [Diagnostic / Biomarker]
Bijok J (2026). [PMID: 41753031](https://pubmed.ncbi.nlm.nih.gov/41753031/). *Journal of clinical medicine*. [Diagnostic / Biomarker]
Botvinik A (2026). [PMID: 41714291](https://pubmed.ncbi.nlm.nih.gov/41714291/). *Prenatal diagnosis*. [Basic Science / Preclinical]
Rewane A (2026). [PMID: 31985964](https://pubmed.ncbi.nlm.nih.gov/31985964/). *Unknown Journal*. [Review / Meta-Analysis]
He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *J Clin Invest*. [Basic Science / Preclinical]
Pulliam L (2025). [PMID: 40153854](https://pubmed.ncbi.nlm.nih.gov/40153854/). *Southern medical journal*. [Clinical Trial Publication]
Betancourt D (2025). [PMID: 39957499](https://pubmed.ncbi.nlm.nih.gov/39957499/). *American journal of medical genetics. Part A*. [Epidemiology / Natural History]
Hura N (2025). [PMID: 39406584](https://pubmed.ncbi.nlm.nih.gov/39406584/). *Otolaryngol Clin North Am*. [Review / Meta-Analysis]
Tadishu B (2025). [PMID: 40496086](https://pubmed.ncbi.nlm.nih.gov/40496086/). *Radiology case reports*. [Case Report / Case Series]
Berihu BA (2025). [PMID: 39901097](https://pubmed.ncbi.nlm.nih.gov/39901097/). *BMC pregnancy and childbirth*. [Epidemiology / Natural History]
AI-curated news mentioning isolated encephalocele
Updated Sep 14, 2026
A recent study highlights the misdiagnosis of nasal dermoid cyst and encephalocele as dacryocystitis, emphasizing the need for accurate diagnosis in rare cases. This research contributes to the understanding of these conditions and their clinical implications.