{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T12:40:04Z","timestamp":1756471204689,"version":"3.44.0"},"reference-count":25,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"vor","delay-in-days":10,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Individuals with Noonan syndrome (NS) are predisposed to hematologic cancers, solid tumors, and low-grade gliomas. We report an 8-year-old girl originally referred at age 14 months for short stature, developmental delay, and failure to thrive who was subsequently found to have pathogenetic variants both in MECP2 and PTPN11. Family history included a maternal half-sister with NS and a mother carrying the PTPN11 mutation. Familial single-gene testing showed a heterozygous pathogenic variant in PTPN11 (c.417G &amp;gt; C p.Glu139Asp) suggesting NS, prompting initiation of growth hormone (GH) treatment at 26 months. Due to associated language delays, gross motor delays, microcephaly, and seizures, exome sequencing (ES) was pursued. ES identified a heterozygous de novo pathogenic variant (c.763C &amp;gt; T p.Arg255Ter) in MECP2 and led to the additional diagnosis of Rett syndrome (RTT). Seizure onset prompted neuroimaging, which demonstrated hydrocephalus due to aqueductal stenosis secondary to a tectal neoplasm. GH treatment was discontinued. The co-occurrence of NS and RTT is rare. ES enabled the additional diagnosis of RTT in our patient with NS, who presented with atypical features and developmental regression.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf188","type":"journal-article","created":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T11:33:42Z","timestamp":1753788822000},"source":"Crossref","is-referenced-by-count":0,"title":["Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-7666-9566","authenticated-orcid":false,"given":"Nikita","family":"Shetty","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Rhode Island Hospital\/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University , Providence, RI 02903 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William D","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rhode Island Hospital\/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University , Providence, RI 02903 ,","place":["USA"]},{"name":"Division of Pediatric Neurology, Rhode Island Hospital\/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University , Providence, RI 02903 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Massingham","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rhode Island Hospital\/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University , Providence, RI 02903 ,","place":["USA"]},{"name":"Division of Genetics and Metabolism, Rhode Island Hospital\/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University , Providence, RI 02903 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey","family":"Rogg","sequence":"additional","affiliation":[{"name":", Rhode Island Hospital, Brown University Health, The Warren Alpert Medical School of Brown University Department of Diagnostic Imaging , Providence, RI 02903 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1691-2293","authenticated-orcid":false,"given":"Jose Bernardo","family":"Quintos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rhode Island Hospital\/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University , Providence, RI 02903 ,","place":["USA"]},{"name":"Division of Pediatric Endocrinology and Diabetes, Rhode Island Hospital\/Hasbro Children's, Brown University Health , The Warren Alpert Medical School of Brown University, Providence, RI 02903 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,8,29]]},"reference":[{"issue":"9863","key":"2025082908271580100_luaf188-B1","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0140-6736(12)61023-X","article-title":"Noonan syndrome","volume":"381","author":"Roberts","year":"2013","journal-title":"Lancet"},{"issue":"8","key":"2025082908271580100_luaf188-B2","doi-asserted-by":"crossref","first-page":"582","DOI":"10.3390\/diagnostics10080582","article-title":"Low-grade gliomas in patients with noonan syndrome: case-based review of the literature","volume":"10","author":"Lodi","year":"2020","journal-title":"Diagnostics (Basel)"},{"issue":"4","key":"2025082908271580100_luaf188-B3","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1002\/ajmg.a.38108","article-title":"Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature","volume":"173","author":"Siegfried","year":"2017","journal-title":"Am J Med Genet A"},{"issue":"8","key":"2025082908271580100_luaf188-B4","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1038\/bjc.2015.75","article-title":"Cancer spectrum and frequency among children with noonan, costello, and cardio-facio-cutaneous syndromes","volume":"112","author":"Kratz","year":"2015","journal-title":"Br J Cancer"},{"key":"2025082908271580100_luaf188-B5","doi-asserted-by":"crossref","first-page":"1453309","DOI":"10.3389\/fonc.2024.1453309","article-title":"Molecular characterization of gliomas and glioneuronal tumors amid noonan syndrome: cancer predisposition examined","volume":"14","author":"Shatara","year":"2024","journal-title":"Front Oncol"},{"issue":"1","key":"2025082908271580100_luaf188-B6","doi-asserted-by":"crossref","first-page":"e000717","DOI":"10.1136\/bmjpo-2020-000717","article-title":"Consensus guidelines on managing Rett 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