Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome
| العنوان: | Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome |
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| المؤلفون: | Nicolás Lundahl Ciano-Petersen, Omar Hamad-Cueto, Hania Drissi-Reyes, Álvaro Doña-Díaz, Guillermina García-Martín |
| المساهمون: | [Ciano-Petersen,NL, García-Martín,G] Neuroimmunology and Neuroinflammation Group, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain. [Ciano-Petersen,NL, García-Martín,G] Servicio de Neurología, Hospital Regional Universitario de Málaga, Málaga, Spain. [Ciano-Petersen,NL] Andalucía Tech, Facultad de Medicina, Universidad de Málaga, Málaga, Spain. [Ciano-Petersen,NL, García-Martín,G] Red Andaluza de Investigación Clínica y Traslacional en Neurología (Neuro-Reca), Málaga, Spain. [Hamad-Cueto,O] Servicio de Neurología, Hospital Clínico Universitario Virgen de la Victoria, Málaga, Spain. [Drissi-Reyes,H] Servicio de Urgencias, Hospital El Ángel, Málaga, Spain. [Doña-Díaz,Á] UGC Salud Mental, Hospital Universitario Virgen de la Victoria, Málaga, Spain. |
| المصدر: | Frontiers in Immunology Frontiers in Immunology, Vol 12 (2021) |
| بيانات النشر: | Frontiers Media SA, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | autoimmune psychosis, Psychosis, Trastornos psicóticos, medicine.medical_treatment, chromosome 22q112 deletion syndrome, Immunology, Arthritis, Case Report, Chromosome 22q112 deletion syndrome, Persons::Persons::Age Groups::Adolescent [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Immune system, Enfermedades autoinmunes, Diseases::Immune System Diseases::Autoimmune Diseases [Medical Subject Headings], medicine, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Chromosome Disorders::22q11 Deletion Syndrome::DiGeorge Syndrome [Medical Subject Headings], Psychiatry and Psychology::Mental Disorders::Schizophrenia and Disorders with Psychotic Features::Psychotic Disorders [Medical Subject Headings], Immunology and Allergy, psychosis, Autoimmune encephalitis, Publication Type::Study Characteristics::Case Reports [Medical Subject Headings], Síndrome de DiGeorge, Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Encephalitis [Medical Subject Headings], cognitive impairment, business.industry, Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Immunologic Factors [Medical Subject Headings], Encefalitis, Immunotherapy, RC581-607, medicine.disease, Autoimmune psychosis, Thrombocytopenic purpura, autoimmune encephalitis, Cognitive impairment, Check Tags::Female [Medical Subject Headings], Etiology, Disfunción cognitiva, Immunologic diseases. Allergy, business, Developmental regression |
| الوصف: | Chromosome 22q11.2 deletion syndrome (22q11DS) is characterized by congenital cardiac abnormalities, hypoplastic thymus, palatal abnormalities, and hypocalcemia, although other clinical features are frequent such as autoimmune and psychiatric disorders. One-third of the patients have psychotic disorders, frequently followed by developmental regression and long-term cognitive disturbances. Despite humoral and cellular immunodeficiency are common in 22q11DS, it is associated with an increased prevalence of autoimmune disorders such as idiopathic thrombocytopenic purpura and juvenile idiopathic arthritis, likely due to immune dysregulations associated with thymic abnormalities, which plays a major role in self-tolerance. We report an unique case of a 14-year-old girl with 22q11DS that presented with subacute psychotic symptoms, intolerance to antipsychotics, CSF pleocytosis, and EEG abnormalities, that was successfully treated with empiric immunotherapy after fulfilling criteria for probable seronegative autoimmune encephalitis and probable autoimmune psychosis. The autoimmune etiology of these clinical features of 22q11DS has never been postulated despite the predisposition of this syndrome to present autoimmune disorders. We suggest the systematic evaluation with serum and CSF neuronal antibodies, MRI, and EEG of patients with 22q11DS that develop subacute psychotic symptoms or rapidly progressive cognitive decline. Early immunomodulatory therapies should be carefully considered if criteria of probable autoimmune psychosis or possible autoimmune encephalitis are fulfilled, as it may prevent long-term disabilities. Further studies are required to assess the autoimmune origin of psychosis and cognitive impairment associated with 22q11DS. |
| وصف الملف: | application/pdf |
| تدمد: | 1664-3224 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da2034e74175c309d2f11a79296291d5Test https://doi.org/10.3389/fimmu.2021.708625Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....da2034e74175c309d2f11a79296291d5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16643224 |
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