title: Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency.
abstract: We report on a premature newborn girl delivered after 32 weeks of gestation by cesarean section after sparse limb movements, fetal tachycardia and late heart rate decelerations had suggested fetal distress. Following 1 day of mechanical ventilation, adequate pulmonary gas exchange was achieved by spontaneous breathing. Main symptoms were virtually complete absence of spontaneous movements, increased flexor tonus of the extremities, and hypotonia of the trunk. Inability to suck or swallow required nasogastric gavage feeding. There were no hypoglycemic episodes. Echocardiography revealed normal myocardial function. Creatine kinase was 237 U/I at 2 days of life, declining to normal values thereafter. Muscle biopsy revealed increased glycogen storage with subsarcolemmal glycogen deposits and low phosphorylase-a activity while total phosphorylase was normal after in vitro activation, suggestive of phosphorylase-b kinase deficiency. No mutation was detected in exon 1 of the myophosphorylase gene. No psychomotor development was observed, and the infant died of central apnea at 3 months of age.
authors.affiliation: Department of Neonatology, Charité Virchow-Klinikum, Humboldt University, Berlin, Germany. christoph.buehrer@charite.de
authors.forename: C
authors.initials: C
authors.lastname: Bührer
authors.forename: F
authors.initials: F
authors.lastname: van Landeghem
authors.forename: W
authors.initials: W
authors.lastname: Brück
authors.forename: U
authors.initials: U
authors.lastname: Felderhoff-Müser
authors.forename: M
authors.initials: M
authors.lastname: Vorgerd
authors.forename: M
authors.initials: M
authors.lastname: Obladen
mesh_terms: D000328:Adult; D001706:Biopsy; D017809:Fatal Outcome; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D010764:Phosphorylase Kinase / Q000172:deficiency* / Q000235:genetics; D011247:Pregnancy
chemical_list: D010764:Phosphorylase Kinase