Martínez-Pascual Darío, Solis-Mendoza Alejandra Dennise, Calderon-García Jacqueline, Sommer Bettina, Calixto Eduardo, Martinez-Enriquez María E, Aquino-Gálvez Arnoldo, Solis-Chagoyan Hector, Montaño Luis M, Romero-Martinez Bianca S, Jaimez Ruth, Flores-Soto Edgar
Escuela de Posgrado en Sanidad Naval, Universidad Naval, Secretaría de Marina de México, Veracruz 94077, Mexico.
Departamento de Hematología, Hospital Naval de Especialidades de Veracruz, Veracruz 91918, Mexico.
Hematol Rep. 2025 Jul 3;17(4):34. doi: 10.3390/hematolrep17040034.
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. 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' 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's 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. 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.
在此，我们描述了一名17岁患有精神病性障碍患者的临床病例，该障碍继发于原发性易栓症导致的脑静脉血栓形成，其与蛋白S缺乏以及伴有p.Ala222Val变异的杂合型亚甲基四氢叶酸还原酶（MTHFR）基因突变有关。一名17岁女性，既往无疾病史，因精神病性发作入住急诊科。精神科评估发现思维紊乱、欣快、思维奔逸且松散关联、精神运动性兴奋及判断力异常。在第五天，检测到腮腺有炎症过程，提示可能为病毒性脑膜脑炎，遂开始抗病毒及抗菌治疗。抗病毒和甾体类抗炎治疗一周后，症状改善甚微，这促使进一步进行神经学检查。磁共振静脉血管造影显示横窦有充盈缺损，符合脑静脉血栓形成。因此，开始使用依诺肝素进行抗凝治疗。患者的行为有所改善，表明脑病症状继发于静脉窦血栓形成。血液学研究表明，静脉窦血栓形成的原因是由杂合型MTHFR突变变异体p.Ala222Val和血浆蛋白S降低35%引起的原发性易栓症。该病例突出了精神障碍与血栓形成性疾病之间可能的关系，提示MTHFR突变和蛋白S缺乏均可能导致精神障碍。在早发性精神障碍中早期发现血栓形成危险因素对于患者的综合管理至关重要。
