RESUMEN

INTRODUCTION: Fatal familial insomnia (FFI) is a rare clinical case. The study was mainly to report the clinical symptoms and imaging and genetic characteristics of a FFI case with depression, with relevant literature summarized. PATIENT CONCERNS: A male, aged 57 years old, with mental disorders and progressive memory decline one year before admission. DIAGNOSIS: Clinical manifestations: he had obvious abnormal mental behavior, rapidly progressing dementia symptoms, stubborn insomnia, abnormal movements and laryngeal stridor after falling asleep at night. Imaging and genetic test results: the cranial magnetic resonance imaging showed frontal temporal lobe atrophy; the polysomnography results showed no effective sleep; the 14-3-3 test result of cerebrospinal fluid was negative; the prion protein (PRNP) test showed that the D178N gene locus had mutations. And the patient was finally diagnosed as FFI. INTERVENTIONS: There were no obvious effects in the treatment using medicines such as Risperidone, Olanzapine, Alprazolam, Clonazepam, and Deanxit. OUTCOMES: Mobility dysfunction of the patient was further aggravated. He was no longer able to move around on his own, and there were serious mental disorders. CONCLUSION: PRNP examination is of guiding significance for the diagnosis of the FFI of depression. Hence, it is very necessary to perform PRNP examination in clinical diagnosis of FFI of depression.

Asunto(s)

Encéfalo/patología , Depresión/diagnóstico , Insomnio Familiar Fatal/diagnóstico , Insomnio Familiar Fatal/psicología , Proteínas Priónicas/análisis , Adulto , Encéfalo/diagnóstico por imagen , Demencia/diagnóstico , Demencia/etiología , Diagnóstico Diferencial , Progresión de la Enfermedad , Discinesias/diagnóstico , Discinesias/etiología , Humanos , Insomnio Familiar Fatal/genética , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Polisomnografía/métodos , Proteínas Priónicas/genética , Ruidos Respiratorios/diagnóstico , Ruidos Respiratorios/etiología , Trastornos del Inicio y del Mantenimiento del Sueño/diagnóstico , Trastornos del Inicio y del Mantenimiento del Sueño/etiología

RESUMEN

ObjectiveTo investigate the efficacy and safety of venlafaxine in the treatment of depression under the guidance of pharmacogenomics testing， and to provide references for individualized medication. MethodsA total of 66 patients who met the diagnostic criteria of International Classification of Diseases， tenth edition （ICD-10） for depressive episode were included in the study. Patients who were recommended to be treated with venlafaxine in the pharmacogenomics testing report were divided into study group （n=32）， and those who were decided to be treated with venlafaxine by doctors after consultation with patients were divided into control group （n=34）. At the baseline and the end of the 2nd， 4th， 6th and 8th weekend of treatment， Hamilton Depression Scale-24 item （HAMD-24） was adopted to evaluate the clinical efficacy. Meanwhile， Sheehan Disability Scale （SDS） was applied to measure the social function of patients at the baseline and the end of the 8th weekend of treatment. After treatment， Treatment Emergent Symptom Scale （TESS） was used to assess the incidence of adverse reactions. ResultsAt the end of the 4th， 6th and 8th weekend of treatment， HAMD-24 scores in the study group were all lower than those in the control group， with statistical differences （t=2.344， 4.316， 5.760， P<0.05 or 0.01）. At the end of the 8th weekend of treatment， SDS score of the study group was lower than that of the control group， with statistical difference （t=2.173， P<0.05）. The adverse reaction rate in the study group was lower than that in the control group， with statistical difference （χ2=5.720， P<0.05）. ConclusionTreatment of depression with venlafaxine based on pharmacogenetic testing is an effective and safe way to alleviate the depression symptoms in patients.