RESUMEN
BACKGROUND: Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by muscle weakness and intellectual disability. METHODS: A clinical and histopathological characterisation of 25 Roma individuals with LGMD R18 caused by the homozygous TRAPPC11 c.1287+5G>A variant is reported. Functional effects of the variant on mitochondrial function were investigated. RESULTS: The c.1287+5G>A variant leads to a phenotype characterised by early onset muscle weakness, movement disorder, intellectual disability and elevated serum creatine kinase, which is similar to other series. As novel clinical findings, we found that microcephaly is almost universal and that infections in the first years of life seem to act as triggers for a psychomotor regression and onset of seizures in several individuals with TRAPPC11 variants, who showed pseudometabolic crises triggered by infections. Our functional studies expanded the role of TRAPPC11 deficiency in mitochondrial function, as a decreased mitochondrial ATP production capacity and alterations in the mitochondrial network architecture were detected. CONCLUSION: We provide a comprehensive phenotypic characterisation of the pathogenic variant TRAPPC11 c.1287+5G>A, which is founder in the Roma population. Our observations indicate that some typical features of golgipathies, such as microcephaly and clinical decompensation associated with infections, are prevalent in individuals with LGMD R18.
Asunto(s)
Discapacidad Intelectual , Microcefalia , Distrofia Muscular de Cinturas , Distrofias Musculares , Romaní , Humanos , Romaní/genética , Fenotipo , Distrofia Muscular de Cinturas/genética , Debilidad Muscular , Proteínas de Transporte VesicularRESUMEN
The long-term response of two infants with anti-N-methyl-D-aspartate receptor (anti-NMDAR) post herpes simplex encephalitis treated with rituximab is reported here. Rituximab may improve the course of the disease and should be considered early as second-line treatment. Data on the long-term effect of rituximab in B cell depletion and immunoglobulins levels in infants are needed.
Asunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato , Encefalitis por Herpes Simple , Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico , Encefalitis Antirreceptor N-Metil-D-Aspartato/tratamiento farmacológico , Encefalitis por Herpes Simple/complicaciones , Encefalitis por Herpes Simple/tratamiento farmacológico , Humanos , Lactante , Receptores de N-Metil-D-Aspartato , Rituximab/uso terapéuticoRESUMEN
La corea de Sydenham es como se denomina el cuadro de origen neurológico consistente en agitación y movimientos anormales que ocurre en contexto de una fiebre reumática, secundariamente a la infección por estreptococo del grupo A. Dado que la incidencia de fiebre reumática ha disminuido significativamente en los últimos años, las complicaciones asociadas pueden considerarse actualmente excepcionales. No obstante, dado que presenta un pronóstico excelente si se instaura precozmente el tratamiento, es muy importante saber reconocer el cuadro clínico (AU)
Sydenhams chorea, with a documented relationship with group A streptococcal infections, is the one of the most common acquired movement disorder of adolescence. However, rheumatic fever´s incidence is significantly lower than years ago. The clinical picture is very characteristic, and its recognition is essential in order to improve the prognostic starting an specific treatment as soon as possible (AU)
Asunto(s)
Humanos , Femenino , Niño , Corea/diagnóstico , Corea/tratamiento farmacológico , Penicilinas/administración & dosificación , Tomografía Computarizada por Rayos X , Imagen por Resonancia Magnética , Antiestreptolisina/sangre , Enfermedad AgudaRESUMEN
La pica se define como la ingesta de sustancias no nutritivas de naturaleza orgánica o inorgánica durante más de un mes. Este trastorno puede ser secundario a enfermedades neurológicas o psiquátricas (retraso mental, autismo, trastornos de la personalidad), pero también puede ser la expresión de déficit nutricional, como la ferropenia. Ante una ferropenia refractaria siempre se ha de pensar en un cuadro malabsortivo subyacente. Se presenta el caso clínico de un niño en edad escolar con pica secundaria a una enfermedad celíaca
Pica is defined as the ingestion of non-nutritive substances for more than a month. This disorder may be secondary to neurologic or psychiatric illnesses (mental retardation, autism, personality disorders), but it can also be the expression of nutritional deficit, such as iron deficiency. In cases of refractory iron deficiency an underlying malabsorptive condition should be ruled out. Here we present the case of a school-age child diagnosed with pica related to celiac disease