Intensive Care Medicine

, Volume 32, Issue 11, pp 1851–1855

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1

  • Alberto Giannini
  • Anna Maria Pinto
  • Giordano Rossetti
  • Edi Prandi
  • Danilo Tiziano
  • Christina Brahe
  • Nardo Nardocci
Pediatric Original

DOI: 10.1007/s00134-006-0346-8

Cite this article as:
Giannini, A., Pinto, A.M., Rossetti, G. et al. Intensive Care Med (2006) 32: 1851. doi:10.1007/s00134-006-0346-8

Abstract

Background

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn α-motoneurons and manifesting in the first 6 months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.

Setting

Pediatric intensive care unit of tertiary care hospital.

Patients

We present two new cases of SMARD1 and report two new mutations in the gene IGHMBP2 which encodes immunoglobulin μ-binding protein 2 on chromosome 11q13.

Conclusions

SMARD1 is a poor-prognosis disease that should be considered when acute respiratory insufficiency, of suspected neuromuscular or unclear cause, develops during the first 6 months of life. Diaphragmatic paralysis, manifesting as dyspnea and paradoxical respiration, is the most prominent presenting sign and diaphragmatic motility should be investigated early by fluoroscopy or ultrasound. Electromyography and nerve conduction studies revealing peripheral motor and sensory neuropathy then suggest the diagnosis which should be confirmed by genetic analysis.

Keywords

Spinal muscular atrophy with respiratory distress type 1SMARD1IGHMBP2Respiratory failureDiaphragmatic paralysisPeripheral sensory neuropathy

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Alberto Giannini
    • 1
  • Anna Maria Pinto
    • 2
  • Giordano Rossetti
    • 1
  • Edi Prandi
    • 1
  • Danilo Tiziano
    • 2
  • Christina Brahe
    • 2
  • Nardo Nardocci
    • 3
  1. 1.Pediatric Intensive Care UnitFondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina ElenaMilanItaly
  2. 2.Institute of Medical GeneticsUniversità Cattolica del Sacro CuoreRomeItaly
  3. 3.Department of Child NeurologyIstituto Nazionale Neurologico C. BestaMilanItaly