RESUMEN
INTRODUCTION: Gardner-Diamond syndrome is a rare condition secondary to a sensitization to self-erythrocytes. It is predominantly seen in women and presents as a painful ecchymotic disorder. An underlying psychiatric disease or a triggering psychological stress is of important diagnostic value. CASE REPORT: We report a 24-year-old patient who presented with intermittent spontaneous painful ecchymosis since 5 years. Complementary investigations failed to identify an organic disorder. Gardner-Diamond syndrome was retained because of the clinical presentation, the negativity of diagnostic work-up and the identification of a psychological trauma. Patient management (pain, psychological support) is difficult, justifying a multidisciplinary approach. CONCLUSION: Gardner-Diamond syndrome is a rare and unrecognized disorder, which should be discussed in the presence of ecchymotic or purpuric lesions that do not have a diagnostic orientation. Early recognition of this disorder enables initiation of an appropriate management, but also limits unnecessary additional explorations.
Asunto(s)
Enfermedades Autoinmunes/diagnóstico , Trastornos Fingidos/diagnóstico , Trastornos Psicóticos/diagnóstico , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Autoinmunes/genética , Enfermedades Autoinmunes/patología , Diagnóstico Diferencial , Trastornos Fingidos/genética , Trastornos Fingidos/patología , Humanos , Masculino , Trastornos Psicóticos/genética , Trastornos Psicóticos/patología , Enfermedades Cutáneas Vasculares/genética , Enfermedades Cutáneas Vasculares/patología , Adulto JovenRESUMEN
There is a close neuroanatomical connection between odor and emotional processing. Olfactory dysfunction is found in various neurodegenerative and neuropsychiatric disorders. Here, mice take the cyclic nucleotide gated channel 2 mutant gene (Cnga2), which is critical for olfactory sensory neurons to generate odor induced action potentials were used. The Cnga2 mice were congenitally anosmic. Adult mice were tested in a series behavioral paradigm such as open field, light/dark box, forced swim test and Y-maze. Our study found that Cnga2 mice showed increased anxiety- and depressive-like behaviors than their wide type siblings. However, Cnga2 mice showed no difference from the wide types when tested in the two-trial recognition Y-maze. The results indicate that innate olfactory deficiency might modulate emotional behaviors in mice.
Asunto(s)
Ansiedad/etiología , Canales Catiónicos Regulados por Nucleótidos Cíclicos/deficiencia , Depresión/etiología , Trastornos Fingidos/complicaciones , Trastornos Fingidos/genética , Adaptación Ocular/genética , Análisis de Varianza , Animales , Animales Recién Nacidos , Ansiedad/genética , Canales Catiónicos Regulados por Nucleótidos Cíclicos/genética , Depresión/genética , Modelos Animales de Enfermedad , Conducta Exploratoria/fisiología , Femenino , Reacción Cataléptica de Congelación/fisiología , Genotipo , Masculino , Aprendizaje por Laberinto/fisiología , Ratones , Ratones Transgénicos , Mutación/genética , Tiempo de Reacción/efectos de los fármacos , Natación/psicologíaRESUMEN
IMPORTANCE: Expanded hexanucleotide repeats in C9ORF72 are a common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. Repeat expansions have also been detected infrequently in other disorders, including Alzheimer disease, dementia with Lewy bodies, and parkinsonian disorders. OBSERVATIONS: A consecutive series of 31 cases from the brain bank for neurodegenerative disorders at Mayo Clinic was screened to assess the incidence of the expanded C9ORF72 repeat in cases of depressive pseudodementia. The presence of the hexanucleotide repeat was established using immunohistochemistry with a highly disease-specific antibody (C9RANT), and was further validated in carriers using repeat-primed polymerase chain reaction and Southern blotting. Two individuals harbored the C9ORF72 repeat expansion. Both patients were men with refractory depression. One patient experienced drug-induced parkinsonism and sudden-onset dementia, while the other patient had a more insidious disease course suspected to be Alzheimer disease. CONCLUSIONS AND RELEVANCE: This report increases the range of clinicopathologic presentations of C9ORF72 expanded hexanucleotide repeat to include psychiatric disorders such as depressive pseudodementia.
Asunto(s)
Enfermedad de Alzheimer/genética , Esclerosis Amiotrófica Lateral/genética , Expansión de las Repeticiones de ADN/genética , Depresión/genética , Trastornos Fingidos/genética , Demencia Frontotemporal/genética , Proteínas/genética , Edad de Inicio , Anciano , Anciano de 80 o más Años , Enfermedad de Alzheimer/patología , Esclerosis Amiotrófica Lateral/patología , Esclerosis Amiotrófica Lateral/psicología , Proteína C9orf72 , Diagnóstico Diferencial , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Factitious psychological symptoms are defined in DSM-III as symptoms that are under the patient's voluntary control. Using specific criteria for the presence of voluntary control, the authors identified a cohort of 9 patients with factitious psychotic symptoms from among 219 patients consecutively admitted to a research ward for psychotic disorders. The phenomenology and family history of the patients suggested that they were a homogeneous group. All had similar DSM-III personality disorders, and most had a remarkably poor long-term outcome.