ABSTRACT
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.
Subject(s)
Glycogen Storage Disease Type IV/pathology , Infant, Premature, Diseases/pathology , Stillbirth , 1,4-alpha-Glucan Branching Enzyme/genetics , Abnormalities, Multiple/pathology , Adult , Birth Weight , Chromosome Inversion/genetics , Chromosomes, Human, Pair 11/genetics , Female , Fetal Macrosomia/pathology , Genetic Carrier Screening , Glucans/analysis , Glycogen Storage Disease Type IV/diagnosis , Glycogen Storage Disease Type IV/genetics , Hepatocytes/pathology , Humans , Inclusion Bodies/pathology , Infant, Newborn , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/genetics , Male , Muscle, Skeletal/pathology , Myocardium/pathology , Pregnancy , Sequence Analysis, DNA , Stillbirth/geneticsSubject(s)
Ascites/therapy , Blood Proteins/analysis , Drainage/methods , Neoplasm Recurrence, Local/therapy , Ovarian Neoplasms/therapy , Palliative Care/methods , Quality of Life , Ultrasonography/methods , Ascites/blood , Female , Humans , Neoplasm Recurrence, Local/blood , Ovarian Neoplasms/bloodABSTRACT
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.
