Related Experiment Video
Updated: Sep 9, 2025
07:00
Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
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Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm
Nikita Shetty1, William D Brown1,2, Lauren Massingham1,3
1Department of Pediatrics, Rhode Island Hospital/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.
JCEM Case Reports
|September 2, 2025
Summary
This case study highlights a rare co-occurrence of Noonan syndrome (NS) and Rett syndrome (RTT) in a child. Exome sequencing enabled the diagnosis of RTT in a patient with atypical NS features.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Noonan syndrome (NS) is a genetic disorder associated with increased cancer risk, including low-grade gliomas.
- Rett syndrome (RTT) is a progressive neurodevelopmental disorder typically affecting females.
Observation:
- A patient with short stature, developmental delay, and failure to thrive was initially diagnosed with NS due to a PTPN11 variant.
- Further evaluation revealed a de novo MECP2 variant, leading to an additional diagnosis of RTT.
- The patient presented with atypical features including microcephaly, seizures, and developmental regression.
Findings:
- Exome sequencing identified concurrent pathogenic variants in PTPN11 (causing NS) and MECP2 (causing RTT).
- The patient developed a tectal neoplasm leading to hydrocephalus, requiring discontinuation of growth hormone therapy.
- This case underscores the diagnostic utility of exome sequencing in complex pediatric presentations.
Implications:
- The co-occurrence of NS and RTT is exceptionally rare and presents diagnostic challenges.
- Early and accurate diagnosis through advanced genetic testing is crucial for appropriate management.
- This case expands the understanding of genotype-phenotype correlations in both NS and RTT.
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