title: Spinal muscular atrophy type I mimicking critical illness neuropathy in a paediatric intensive care neonate: electrophysiological features.
abstract: We report the case of a neonate with spinal muscular atrophy type I (SMA type I or Werdnig-Hoffman disease) who was initially misdiagnosis as having critical illness neuropathy. Electromyography (EMG) showed a moderate loss of voluntary and motor unit potentials of both neurogenic and myopathic appearance. Nerve conduction studies revealed the presence of a severe sensory-motor axonal neuropathy. Finally, a biopsy of quadriceps was compatible with the diagnosis of SMA type I. A genetic study confirmed the existence of a homozygous absence of exons 7 and 8 of the telomeric supervival motoneuron gene (SMN1 gene).
authors.affiliation: Department of Clinical Neurophysiology, University Hospital Marqués de Valdecilla (IFIMAV), Avenida Valdecilla, s/n, 39008 Santander, Cantabria, Spain. jlfernandez@humv.es
authors.forename: José L
authors.initials: JL
authors.lastname: Fernández-Torre
authors.forename: José L
authors.initials: JL
authors.lastname: Teja
authors.forename: Alvaro
authors.initials: A
authors.lastname: Castellanos
authors.forename: Javier
authors.initials: J
authors.lastname: Figols
authors.forename: Tomás
authors.initials: T
authors.lastname: Obeso
authors.forename: Rosa
authors.initials: R
authors.lastname: Arteaga
mesh_terms: D001706:Biopsy; D004576:Electromyography; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000503:physiopathology*; D015278:Intensive Care Units, Pediatric; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000502:physiology; D009431:Neural Conduction / Q000502:physiology; D011115:Polyneuropathies / Q000175:diagnosis / Q000503:physiopathology*; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000503:physiopathology*