Afección del sistema nervioso central en la enfermedad relacionada con IgG4: descripción de un caso y revisión de la bibliografía / Central nervous system in IgG4-related disease: case report and literature review

Introducción. La enfermedad relacionada con IgG4 es una entidad clínica multisistémica recientemente descrita y que se presenta con diferentes manifestaciones clínicas. Los órganos que están afectados con mayor frecuencia son el páncreas, la vía biliar y las glándulas salivales, y es menos frecuente la afección del sistema nervioso central. Caso clínico. Mujer de 33 años con alteraciones cognitivas, alucinaciones, cefalea, síndrome convulsivo, sinusitis maxilar con afección ósea y evidencia de paquimeningitis y panhipopituitarismo, con biopsia meníngea que confirmó una enfermedad relacionada con IgG4, tras haberse descartado causas secundarias. Se inició tratamiento con glucocorticoides y azatioprina, sin recaídas después de 12 meses de seguimiento. Conclusiones. Se debe considerar el diagnóstico de enfermedad relacionada con IgG4 en casos de paquimeningitis hipertrófica e hipofisitis, incluso sin que se acompañen de otras manifestaciones sistémicas, siempre que se hayan descartado otras causas más frecuentes. El tratamiento de elección son los glucocorticoides, y puede ser necesario añadir otro inmunosupresor como ahorrador de esteroides y para evitar las recaídas. Se necesitan estudios prospectivos para evaluar las diferentes manifestaciones clínicas y paraclínicas y establecer los resultados del tratamiento a largo plazo (AU)

Introduction. IgG4-related disease is a recently described multisystemic clinical entity that can occur with different clinical manifestations. The most often affected organs are the pancreas, bile duct and salivary glands, with unusual central nervous system affection. Case Report. A 33 year old woman who presented with cognitive impairment, hallucinations, headache, convulsive syndrome, maxillary sinus inflammation with bone involvement and evidence of pachymeningitis and panhypopytuirarism with meningeal biopsy that confirmed IgG4-related disease, after ruling out secondary causes. Treatment was started with steroids and azathioprine without relapses after 12 months follow-up. Conclusions. IgG4-related disease should be considered in cases of hypertrophic pachymeningitis and hypophysitis especially when no other cause has been found, even if they are not accompanied by other systemic disease manifestations, having ruled out other common causes. The treatment of choice is glucocorticoids and it could be needed to add another immuno­suppressant agent as steroid sparing and to prevent relapses. Prospective studies are needed to evaluate the different clinical and paraclinical manifestations and to establish the results of long-term treatment (AU)

Exploring epistasis in candidate genes for antisocial personality disorder.

OBJECTIVE: To identify and characterize high-order gene-to-gene interactions in antisocial personality disorder (ASPD). METHODS: Participants for case-control study were selected from the inmate male population in Bellavista prison from Medellin. The study included 310 individuals with ASPD and 200 with no ASPD. Diagnoses were made according to a best-estimate procedure based on a semistructured interview (diagnostic interview for genetic studies 3.0). We genotyped some single-nucleotide polymorphisms in candidate genes with main serotonin pathway effects. The gene-gene interaction was examined using the multifactor dimensionality reduction method version 2.0.α. We assessed model sizes of 2 and 3 loci and counted the number of replicates that contained the causal loci in the final best model that was identified using 10-fold cross validation. RESULTS: We find epistatic interaction with catechol-O-methyl transferase (COMT), tryptophan hydroxylase, and 5-HTR2A (serotonin receptor) with ASPD. This data supports an important role of polymorphism in serotonin receptors and low enzyme activity of COMT for susceptibility to ASPD. CONCLUSION: This study suggests that gene interactions between genetic variants in COMT, 5-HTR2A and tryptophan hydroxylase gene would be associated with ASPD and influence the dopamine rewards pathways and modulate serotonin levels in ASPD.

Aspectos neurobiológicos de la psicopatía / Neurobiological aspects of psychopathy

La psicopatía es un constructo psiquiátrico caracterizado por un patrón permanente de déficit afectivo y una falta de respeto por los derechos de los demás y por las normas sociales. El término equivale al "trastorno de personalidad antisocial" DSM-IV-TR y al "Trastorno disocial de personalidad" de la Clasificación Internacional de Enfermedades (CIE-10). Los individuos afectados comienzan a presentar características psicopáticas desde la niñez, son propensos a involucrarse en conductas criminales pero no a resocializarse con los programas penitenciarios, y reinciden con más rapidez, crueldad y violencia que los criminales no psicópatas. La etiopatogenia parece basarse en la interacción compleja de factores biológicos y psicosociales. El objetivo del presente artículo es presentar una revisión actualizada de los aspectos neurobiológicos de la psicopatía entre los cuales se encuentran los obstétricos, neuroanatómicos, neuroquímicos y genéticos.

Psychopathy is a psychiatric construct characterized by a permanent pattern of affective deficit, and a lack of respect for the rights of other people and the social norms. The term is equivalent to the "Antisocial personality disorder" of the DSMIV-TR, and to the "Dissocial personality disorder" of the CIE-10. Since childhood, the affected individuals begin to display psychopathic characteristics and they have tendency to become involved in criminal behaviors but not to resocialice themselves with penitentiary programs; they reoffend more rapidly, with more cruelty and violence than non-psychopathic criminals. Etiopathogenesis of psychopathy is based on the complex interaction of biological and psychosocial factors. The objective of the present article is to provide an updated review about the neurobiological aspects of psychopathy among them the obstetric, neuroanatomical, neurochemical and genetic