Infant with Known Dandy–Walker Malformation and Poor Feeding Found to Have Additional Diagnosis
Jacob Q. Lin, April Cooke, Nick Townley
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.
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.
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
Click any figure to enlarge with its caption.
Figure 1
Figure 2
Figure 3Peer Reviews
No public reviews on file for this paper yet. If you reviewed it on a platform where reviews are public (OpenReview, ICLR, NeurIPS, ICML), you can paste yours below so the community can read it here.
Videos
No videos yet. Explain this paper in a talk, walkthrough, or lecture? Add one.
Taxonomy
TopicsProtein Tyrosine Phosphatases · RNA modifications and cancer · Genetic and Kidney Cyst Diseases