Arthrogryposis multiplex congenita with posterior column degeneration and peripheral neuropathy: a case report

Clin Neuropathol. 1993 Jan-Feb;12(1):25-33.

Abstract

Congenital sensory neuropathies associated with arthrogryposis multiplex congenita (AMC) are rare. We report a unique case of a nine-week-old, full-term infant with AMC, congenital sensory neuropathy, and posterior column degeneration. The family history was negative for neuromuscular disease. At birth, the infant was small for gestational age, indicative of intrauterine growth retardation. He was hypotonic and hyporeflexic, and failed to sustain respiration. He remained ventilator-dependent throughout his life. Electrodiagnostic studies indicated widespread peripheral neuropathy. At two weeks of age, biopsied sural nerve was almost completely devoid of myelinated axons; quadriceps skeletal muscle contained only mild and nonspecific abnormalities. Autopsy showed pulmonary hypoplasia. The major nervous system findings were severe, bilateral posterior column degeneration, mild posterior horn gliosis, atrophy of posterior roots, and axonal degeneration of the peripheral nerves. Sensory and autonomic (vagal) nerves were preferentially involved, with relative sparing of motor nerves. This case suggests that interruption of kinesthetic pathways early in gestation may result in fixed joints.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / pathology*
  • Axons / ultrastructure
  • Biopsy
  • Brain / pathology
  • Humans
  • Infant
  • Joints / innervation
  • Kinesthesis / physiology
  • Male
  • Muscles / innervation
  • Myelin Sheath / pathology
  • Nerve Degeneration / physiology*
  • Peripheral Nervous System Diseases / pathology*
  • Sensory Receptor Cells / pathology*
  • Spinal Cord / pathology*
  • Sural Nerve / pathology