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

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.

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.

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