# Infant with Known Dandy–Walker Malformation and Poor Feeding Found to Have Additional Diagnosis

**Authors:** Jacob Q. Lin, April Cooke, Nick Townley

PMC · DOI: 10.1055/a-2562-1814 · 2025-04-08

## TL;DR

A late preterm infant with Dandy–Walker malformation and feeding issues was found to also have Noonan syndrome caused by a PTPN11 gene mutation.

## Contribution

This case report highlights a rare co-occurrence of Dandy–Walker malformation and Noonan syndrome with a PTPN11 mutation.

## Key findings

- The infant had Dandy–Walker malformation and Noonan syndrome with a PTPN11 gene mutation.
- This is one of the few reported cases of Dandy–Walker malformation associated with Noonan syndrome.
- Overlapping symptoms can obscure the diagnosis in infants with multiple pathologies.

## Abstract

There are few reported cases of Dandy–Walker Malformation associated with Noonan syndrome (NS).

We herein present a case of a late preterm infant with Dandy–Walker malformation (DWM) that underwent a workup for feeding difficulty and was found to have NS. This is one of the few reported cases of DWM with NS having a PTPN11 gene mutation.

Overlapping clinical features may disguise diagnosis in infants with multiple pathologies.

## Linked entities

- **Genes:** PTPN11 (protein tyrosine phosphatase non-receptor type 11) [NCBI Gene 5781]
- **Diseases:** Dandy–Walker Malformation (MONDO:0009072), Noonan syndrome (MONDO:0018997)

## Full-text entities

- **Genes:** PTPN11 (protein tyrosine phosphatase non-receptor type 11) [NCBI Gene 5781] {aka BPTP3, CFC, JMML, METCDS, NS1, PTP-1D}
- **Diseases:** NS (MESH:D009634), DWM (MESH:D003616)

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12020535/full.md

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Source: https://tomesphere.com/paper/PMC12020535