Pediatric and Developmental Pathology

, Volume 6, Issue 1, pp 59–68

Diversity of Neuromuscular Pathology in Lethal Multiple Pterygium Syndrome

Authors

  • Phillip M. Cox
    • Department of Histopathology, Birmingham Women's Hospital, Metchley Park Road, Birmingham B15 2TG, UK
  • Louise A. Brueton
    • Department of Clinical Genetics, Birmingham Women's Hospital, Metchley Park Road, Birmingham B15 2TG, UK
  • Predrag Bjelogrlic
    • School of Biology, University of St. Andrews, Bute Medical Building, St. Andrews KY16 9TS, UK
  • Penelope Pomroy
    • Department of Histopathology, Birmingham Women's Hospital, Metchley Park Road, Birmingham B15 2TG, UK
  • Caroline A. Sewry
    • Division of Paediatrics, Obstetrics and Gynaecology, Imperial College School of Medicine, Hammersmith Campus, 150 Du Cane Road, London W12 0NN, UK

DOI: 10.1007/s10024-002-0042-9

Cite this article as:
Cox, P., Brueton, L., Bjelogrlic, P. et al. Pediatr. Dev. Pathol. (2003) 6: 59. doi:10.1007/s10024-002-0042-9

Lethal multiple pterygium syndrome (LMPS) is an uncommon fetal-onset disorder of unknown etiology. The pathogenesis of LMPS has been suggested to be early-onset fetal akinesia, fragile collagen, or generalized edema. Information on the neuromuscular pathology of LMPS in the literature is generally scanty. We present the findings from a review of 14 fetuses with features of LMPS from the archives of the Hammersmith Hospital Perinatal Pathology Department. Autopsy reports, photographs, fetograms, and histological sections were examined, and additional special stains and immunostaining were performed on muscle sections. In five cases, there was evidence of autosomal recessive inheritance. One case was later shown to be due to glycogen storage disease type IV. The skeletal muscle bulk was reduced in all fetuses and the remaining muscle showed a range of histological appearances including vacuolar degeneration, dystrophy, a generalized or patchy myotubular appearance, and generalized hypotrophy. In one, the histological appearance was essentially normal. Two cases had abnormalities in the brain. Large motor neurons were present in the anterior spinal horns of all fetuses in whom the spinal cord could be examined. There was no evidence of cartilaginous joint fusion. We conclude that LMPS is the phenotype resulting from fetal akinesia commencing in the first or early second trimester. In the majority of cases, the precise underlying cause will not be identified, however, occasionally a metabolic or neurodevelopmental disorder or a specific primary myopathy may be demonstrated, providing adequate autopsy investigations are undertaken.

Copyright information

© 2002 Society for Pediatric Patho logy