# A Female Newborn With Occipital Encephalocele and a Hypoplastic Right Ventricle Secondary to Tricuspid and Pulmonary Atresia: A Case Report

**Authors:** Alexandria Sobczak, Alyson Skelly, Hemangi Patel, Randy Felber, Christine DiLeo

PMC · DOI: 10.7759/cureus.55917 · 2024-03-10

## TL;DR

A newborn girl had rare brain and heart defects, possibly linked to maternal health issues like obesity and diabetes.

## Contribution

This case report highlights a rare combination of occipital encephalocele and cardiac malformations with maternal risk factors.

## Key findings

- The newborn had an occipital encephalocele and severe right ventricular hypoplasia.
- Tricuspid and pulmonary atresia were identified as contributing cardiac malformations.
- Maternal risk factors included obesity, type 2 diabetes, and tobacco use during pregnancy.

## Abstract

Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is hypothesized to be related to genetic, environmental, and maternal risk factors. This case report describes a newborn with an occipital encephalocele associated with severe right ventricular hypoplasia secondary to tricuspid and pulmonary atresia. The patient’s maternal risk factors included obesity, type 2 diabetes mellitus, and everyday tobacco use during pregnancy. Education on preconception planning, management, and counseling is essential as a preventative measure in fetal development and is further emphasized in this case.

## Linked entities

- **Diseases:** encephalocele (MONDO:0016057), tricuspid atresia (MONDO:0011514), type 2 diabetes mellitus (MONDO:0005148)

## Full-text entities

- **Diseases:** congenital abnormalities (MESH:D000013), Encephaloceles (MESH:D004677), cardiac malformations (MESH:D006331), right ventricular hypoplasia (MESH:C535682), obesity (MESH:D009765), Tricuspid and Pulmonary Atresia (MESH:D018785), type 2 diabetes mellitus (MESH:D003924), Ventricle (MESH:D002551)
- **Species:** Nicotiana tabacum (American tobacco, species) [taxon 4097], Homo sapiens (human, species) [taxon 9606]

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11004831/full.md

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Source: https://tomesphere.com/paper/PMC11004831