# Giant parieto-occipital encephaloceles: always a dismal prognosis? A case report and review of the literature

**Authors:** Wouter J. Dronkers, Irene M. J. Mathijssen, Attie Go, Victor Volovici, Jochem K. H. Spoor

PMC · DOI: 10.1007/s00381-026-07212-0 · Child's Nervous System · 2026-03-22

## TL;DR

An infant with a severe brain malformation showed unexpected stability and development, challenging assumptions about poor outcomes.

## Contribution

This case report challenges the assumption that giant encephaloceles always lead to poor outcomes by presenting a positive long-term follow-up.

## Key findings

- The patient remained stable after birth and showed developmental progress at 4 years old.
- Surgical reconstruction was successfully performed at 4 weeks of age.
- The case suggests that long-term expectations for such conditions may need reconsideration.

## Abstract

The presented case involves an infant with a prenatally diagnosed giant encephalocele including parts of the occipital and superior parietal lobes, as well as the superior cerebellum. Imaging revealed a complex encephalocele with absence or hypoplastic aspects of venous structures, including the vein of Galen and transverse and sigmoid sinus. Clinically, despite the anticipated poor prognosis, the patient remained stable after delivery, leading to a reassessment of the initial palliative care plan. Surgical reconstruction of the encephalocele was performed at 4 weeks of age. The most recent follow-up was conducted at 4 years of age. The patient demonstrated significant developmental progress including speech, language, and motor skills without complaints of headache or nausea. The presented case highlights the medical and ethical challenges physicians face while dealing with pediatric patients with severe congenital anomalies. The case emphasizes the importance of personalized care and reconsideration of long-term expectations for these conditions.

## Linked entities

- **Diseases:** encephalocele (MONDO:0016057)

## Full-text entities

- **Diseases:** hypoplastic transverse and sigmoid sinus (MESH:D020227), blood loss (MESH:D016063), Necrotic (MESH:D009336), cognitive impairment (MESH:D003072), impairments in vision and color perception (MESH:D003117), congenital neurological condition (MESH:D019636), congenital anomalies (MESH:D000013), vomiting (MESH:D014839), headache (MESH:D006261), meningocele (MESH:D008588), skull defect (MESH:D012888), encephalocele (MESH:D004677), nausea (MESH:D009325), hypoplastic left transverse and sigmoid sinuses (MESH:D012810), neural tube defect (MESH:D009436)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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Source: https://tomesphere.com/paper/PMC13005860