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Acta Neuropathologica

, Volume 79, Issue 6, pp 692–696 | Cite as

Hypoplasia of posterior spinal roots and dorsal spinal tracts with arthrogryposis multiplex congenita

  • H. Vogel
  • D. Halpert
  • D. S. Horoupian
Case Reports

Summary

We report a male infant with arthrogryposis multiplex congenita (AMC) who survived for 19 weeks following birth at 36 weeks gestational age. No heritable or acquired cause of neuromuscular disease was found. He manifested joint contractures of upper and lower extremities, diffuse hypotonia requiring ventilatory support, and areflexia; the general examination also showed facial dysmorphisms, and an ichthyotic rash. Pathological examination of the brain and spinal cord revealed severe hypoplasia of dorsal roots and posterior columns, nondecussation of pyramidal tracts, and anterior horns of an unusual configuration: the brain was normal, and the cerebellum contained Purkinje cell heterotopias. Muscle spindles could not be identified. To our knowledge, these spinal cord abnormalities in association with AMC have not been previously reported, thus raising interesting speculations about the possible role of such abnormalities in the pathogenesis of AMC.

Key words

Arthrogryposis multiplex congenita Spinal cord dysplasia Hypoplasia, posterior spinal roots Spinal root ganglia, rudimentary Dysplasia, inferior olivary nuclei 

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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • H. Vogel
    • 1
  • D. Halpert
    • 1
  • D. S. Horoupian
    • 1
  1. 1.Department of Pathology (Neuropathology)Stanford University Medical CenterStanfordUSA

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