Prenatal diagnosis of congenital myasthenia with arthrogryposis in a myasthenic mother

Prenat Diagn. 1991 Jan;11(1):17-22. doi: 10.1002/pd.1970110104.

Abstract

We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultrasonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted. Eight other cases of congenital myasthenia with arthrogryposis are known; four of them are siblings. The recurrence risk may be as high as 100 per cent. Our second case demonstrates that prenatal diagnosis is possible early enough to allow termination of pregnancy.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Arthrogryposis / complications
  • Arthrogryposis / diagnosis*
  • Female
  • Humans
  • Myasthenia Gravis / complications
  • Myasthenia Gravis / congenital
  • Myasthenia Gravis / diagnostic imaging*
  • Pregnancy
  • Pregnancy Complications*
  • Prenatal Diagnosis*
  • Receptors, Cholinergic / biosynthesis
  • Ultrasonography

Substances

  • Receptors, Cholinergic