Atypical infantile spinomuscular atrophy presenting as acute diaphragmatic paralysis

Kevin E. Bove, Susan T. Lannaccone

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Two infants with progressive spinomuscular atrophy presented with severe diaphragmatic dysfunction, increasing to 9 the number of cases with this clinically distinctive variant of Werdnig-Hoffmann disease. The anterior horn cell lesion was generalized but was exceptionally severe in the cervical spinal cord of our cases. Fiber size disproportion in serial thigh muscle samples indicated that qualitative neuronal dysfunction preceded appearance of typical denervation. Shoulder girdle muscle biopsy may be more appropriate in these infants, whose prognosis appears to be universally poor..

Original languageEnglish (US)
Pages (from-to)95-107
Number of pages13
JournalFetal and Pediatric Pathology
Volume8
Issue number1
DOIs
StatePublished - 1988

Keywords

  • Anterior horn cells
  • Diaphragm
  • Fiber size disproportion
  • Spinal muscular atrophy
  • Werdnig-Hoffmann disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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