AN APPROACH TO VENTILATOR-DEPENDENT NEONATES WITH ARTHROGRYPOSIS

Objective. To identify the clinical factors and/or test results necess ary to determine the diagnosis and prognosis for a group of neonates w ho presented with respiratory insufficiency and multiple contractures. Methods. We performed a retrospective review of medical records and i dentified 15 newborns over a 10-year period (1980 through 1990) who ha d arthrogryposis multiplex congenita and required ventilator support a t birth. We designed a 104 item data base to record clinical informati on; this was subsequently analyzed using the Clinfo data base program for statistical analysis. Results. Fourteen of the 15 patients died. O f the fourteen, 13 were electively extubated after a variable time cou rse (2 hours to 64 days). Autopsies performed on all 14 revealed an ap proximately equal distribution of central nervous system (CNS) malform ations, peripheral neuropathies, and peripheral myopathies as the etio logy. The single survivor had myasthenia gravis. Conclusion. In neonat es with arthrogryposis, ventilator dependence at birth carries a poor prognosis. Prenatal factors that potentially predict respiratory insuf ficiency for the fetus with arthrogryposis include decreased fetal mov ements, polyhydramnios, micrognathia, and thin ribs. The combination o f a thorough physical examination and radiographic and neuromuscular s tudies may not result in a specific diagnosis, but it can indicate whe ther the abnormality is in the CNS, peripheral nerves or muscles. Befo re elective withdrawal of ventilatory support, an edrophonium chloride challenge test should be performed to rule out myasthenia gravis.