{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:28:46Z","timestamp":1760059726875,"version":"build-2065373602"},"reference-count":22,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T00:00:00Z","timestamp":1751500800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico","award":["FM\/DI\/123\/2024","FM\/DI\/022\/2024","IN224120"],"award-info":[{"award-number":["FM\/DI\/123\/2024","FM\/DI\/022\/2024","IN224120"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hematology Reports"],"abstract":"<jats:p>Background and Clinical Significance: Herein, we describe the clinical case of a 17-year-old patient with psychotic disorder secondary to cerebral venous thrombosis due to primary thrombophilia, which was related to protein S deficiency and a heterozygous MTHFR gene mutation with the p.Ala222Val variant. Case presentation: A 17-year-old female, with no history of previous illnesses, was admitted to the emergency service department due to a psychotic break. Psychiatric evaluation detected disorganized thought, euphoria, ideas that were fleeting and loosely associated, psychomotor excitement, and deviant judgment. On the fifth day, an inflammatory process in the parotid gland was detected, pointing out a probable viral meningoencephalitis, prompting antiviral and antimicrobial treatment. One week after antiviral and steroidal anti-inflammatory treatments, the symptoms\u2019 improvement was minimal, which led to further neurological workup. MRI venography revealed a filling defect in the transverse sinus, consistent with cerebral venous thrombosis. Consequently, anticoagulation treatment with enoxaparin was initiated. The patient\u2019s behavior improved, revealing that the encephalopathic symptoms were secondary to thrombosis of the venous sinus. Hematological studies indicated the cause of the venous sinus thrombosis was a primary thrombophilia caused by a heterozygous MTHFR mutation variant p.Ala222Val and a 35% decrease in plasmatic protein S. Conclusions: This case highlights the possible relationship between psychiatric and thrombotic disorders, suggesting that both the MTHFR mutation and protein S deficiency could lead to psychotic disorders. Early detection of thrombotic risk factors in early-onset psychiatric disorders is essential for the comprehensive management of patients.<\/jats:p>","DOI":"10.3390\/hematolrep17040034","type":"journal-article","created":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T06:01:33Z","timestamp":1751522493000},"page":"34","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Psychotic Disorder Secondary to Cerebral Venous Thrombosis Caused by Primary Thrombophilia in a Pediatric Patient with Protein S Deficiency and an MTHFR p.Ala222Val Variant: A Case Report"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-0919-2647","authenticated-orcid":false,"given":"Dar\u00edo","family":"Mart\u00ednez-Pascual","sequence":"first","affiliation":[{"name":"Escuela de Posgrado en Sanidad Naval, Universidad Naval, Secretar\u00eda de Marina de M\u00e9xico, Veracruz 94077, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandra Dennise","family":"Solis-Mendoza","sequence":"additional","affiliation":[{"name":"Escuela de Posgrado en Sanidad Naval, Universidad Naval, Secretar\u00eda de Marina de M\u00e9xico, Veracruz 94077, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Calderon-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Departamento de Hematolog\u00eda, Hospital Naval de Especialidades de Veracruz, Veracruz 91918, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1292-9418","authenticated-orcid":false,"given":"Bettina","family":"Sommer","sequence":"additional","affiliation":[{"name":"Departamento de Investigaci\u00f3n en Hiperreactividad Bronquial, Instituto Nacional de Enfermedades Respiratorias \u201cIsmael Cos\u00edo Villegas\u201d, Mexico City 14370, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Calixto","sequence":"additional","affiliation":[{"name":"Laboratorio de Neurofarmacolog\u00eda, Subdirecci\u00f3n de Investigaciones Cl\u00ednicas, Instituto Nacional de Psiquiatr\u00eda Ram\u00f3n de la Fuente Mu\u00f1iz, Mexico City 14370, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda E.","family":"Martinez-Enriquez","sequence":"additional","affiliation":[{"name":"Departamento de Farmacolog\u00eda, Facultad de Medicina, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Mexico City 04510, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2869-5516","authenticated-orcid":false,"given":"Arnoldo","family":"Aquino-G\u00e1lvez","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Fibrosis Pulmonar, Instituto, Instituto Nacional de Enfermedades Respiratorias Ismael Cos\u00edo Villegas, Mexico City 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hector","family":"Solis-Chagoyan","sequence":"additional","affiliation":[{"name":"Laboratorio de Neurobiolog\u00eda Cognitiva, Centro de Investigaci\u00f3n en Ciencias Cognitivas, Universidad Aut\u00f3noma del Estado de Morelos, Cuernavaca 62209, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8329-4918","authenticated-orcid":false,"given":"Luis M.","family":"Monta\u00f1o","sequence":"additional","affiliation":[{"name":"Departamento de Farmacolog\u00eda, Facultad de Medicina, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Mexico City 04510, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5887-6177","authenticated-orcid":false,"given":"Bianca S.","family":"Romero-Martinez","sequence":"additional","affiliation":[{"name":"Departamento de Farmacolog\u00eda, Facultad de Medicina, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Mexico City 04510, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4524-1233","authenticated-orcid":false,"given":"Ruth","family":"Jaimez","sequence":"additional","affiliation":[{"name":"Departamento de Farmacolog\u00eda, Facultad de Medicina, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Mexico City 04510, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2649-8751","authenticated-orcid":false,"given":"Edgar","family":"Flores-Soto","sequence":"additional","affiliation":[{"name":"Departamento de Farmacolog\u00eda, Facultad de Medicina, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Mexico City 04510, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,3]]},"reference":[{"key":"ref_1","first-page":"25","article-title":"Trombofilia 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