RESUMEN
Here we report the case of a newborn with glycogenosis type IV (Andersen disease), who died shortly after birth. The diagnosis was established in the first instance by light microscopy and histochemistry, and subsequently ultrastructurally. DNA could be extracted from a fibroblast cell culture by sequencing the causative GBE1 gene (glycogen branching enzyme 1). Two compound heterozygous mutations in the gene were identified. The differential diagnosis should include Lafora disease as well as polyglucosan body disease. Since there is no effective therapy for glycogenosis type IV to date, prenatal diagnosis is mandatory.
Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo IV/patología , Enfermedades del Prematuro/patología , Mortinato , Enzima Ramificadora de 1,4-alfa-Glucano/genética , Anomalías Múltiples/patología , Adulto , Peso al Nacer , Inversión Cromosómica/genética , Cromosomas Humanos Par 11/genética , Femenino , Macrosomía Fetal/patología , Tamización de Portadores Genéticos , Glucanos/análisis , Enfermedad del Almacenamiento de Glucógeno Tipo IV/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo IV/genética , Hepatocitos/patología , Humanos , Cuerpos de Inclusión/patología , Recién Nacido , Enfermedades del Prematuro/diagnóstico , Enfermedades del Prematuro/genética , Masculino , Músculo Esquelético/patología , Miocardio/patología , Embarazo , Análisis de Secuencia de ADN , Mortinato/genéticaAsunto(s)
Ascitis/terapia , Proteínas Sanguíneas/análisis , Drenaje/métodos , Recurrencia Local de Neoplasia/terapia , Neoplasias Ováricas/terapia , Cuidados Paliativos/métodos , Calidad de Vida , Ultrasonografía/métodos , Ascitis/sangre , Femenino , Humanos , Recurrencia Local de Neoplasia/sangre , Neoplasias Ováricas/sangreRESUMEN
A decrease of damages to the femoral nerve could be proved clinically, and for a small group electromyographically too, after using leg supports in vaginal surgery. The general use of adjustable legholders is recommended for exact positioning of legs with a flexion angle of 45 degree or more and an abduction angle of 45 degree maximally.