RESUMO
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.
Assuntos
Doença de Depósito de Glicogênio Tipo IV/patologia , Doenças do Prematuro/patologia , Natimorto , Enzima Ramificadora de 1,4-alfa-Glucana/genética , Anormalidades Múltiplas/patologia , Adulto , Peso ao Nascer , Inversão Cromossômica/genética , Cromossomos Humanos Par 11/genética , Feminino , Macrossomia Fetal/patologia , Triagem de Portadores Genéticos , Glucanos/análise , Doença de Depósito de Glicogênio Tipo IV/diagnóstico , Doença de Depósito de Glicogênio Tipo IV/genética , Hepatócitos/patologia , Humanos , Corpos de Inclusão/patologia , Recém-Nascido , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/genética , Masculino , Músculo Esquelético/patologia , Miocárdio/patologia , Gravidez , Análise de Sequência de DNA , Natimorto/genéticaRESUMO
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.