Primary Thrombophilia, Along with the MTHFR P.ALA22VAL Genetic Variant, Has Been Associated with the Development of a Psychotic Disorder in a Pediatric Patient

Background: and Clinical Significance: Herein we describe the clinical case of a 17-year-old patient with psychotic disorder due to primary thrombophilia, which was re-lated to protein S deficiency and P.ALA22VAL variant MTHFR gene mutation. Case presentation: A 17-year-old female, with no history of previous illnesses, was admitted to the emergency service due to a psychotic break. Psychiatric evaluation detected disor-ganized thought, euphoria, ideas that were fleeting and loosely associated, psychomotor excitement, and deviant judgment. On the fifth day, an inflammatory process in the pa-rotid gland was detected, pointing out a probable viral meningoencephalitis. An antiviral and antimicrobial treatment was immediately given. One week after antiviral and steroi-dal anti-inflammatory treatments, the symptoms improvement was minimal, leading to a presumptive diagnosis of an encephalopathic syndrome. Given the suspicion of a vascu-lar event, a venous MRI was performed, showing a filling defect in the transverse sinus; consequently, anticoagulation treatment with enoxaparin was initiated. The patient´s be-havior improved, revealing that the encephalopathic symptoms were secondary to thrombosis of the venous sinus. Hematological studies were performed to rule out prima-ry coagulopathy and primary thrombophilia; these studies demonstrated a MTHFR mu-tation variant P.ALA22VAL and a 35% decrease in plasmatic Protein S. Conclusion, this case highlights the feasible relationship between psychiatric and hematological disorders, underlining the importance of the MTHFR mutation and protein S deficiency in the de-velopment and progression of psychotic disorders. Early detection of these factors is es-sential for comprehensive management in patients with onset of atypical psychiatric illnesses.