An approach to ventilator-dependent neonates with arthrogryposis.

OBJECTIVE

To identify the clinical factors and/or test results necessary to determine the diagnosis and prognosis for a group of neonates who presented with respiratory insufficiency and multiple contractures.

METHODS

We performed a retrospective review of medical records and identified 15 newborns over a 10-year period (1980 through 1990) who had arthrogryposis multiplex congenita and required ventilator support at birth. We designed a 104 item data base to record clinical information; this was subsequently analyzed using the Clinfo data base program for statistical analysis.

RESULTS

Fourteen of the 15 patients died. Of the fourteen, 13 were electively extubated after a variable time course (2 hours to 64 days). Autopsies performed on all 14 revealed an approximately equal distribution of central nervous system (CNS) malformations, peripheral neuropathies, and peripheral myopathies as the etiology. The single survivor had myasthenia gravis.

CONCLUSION

In neonates with arthrogryposis, ventilator dependence at birth carries a poor prognosis. Prenatal factors that potentially predict respiratory insufficiency for the fetus with arthrogryposis include decreased fetal movements, polyhydramnios, micrognathia, and thin ribs. The combination of a thorough physical examination and radiographic and neuromuscular studies may not result in a specific diagnosis, but it can indicate whether the abnormality is in the CNS, peripheral nerves or muscles. Before elective withdrawal of ventilatory support, an edrophonium chloride challenge test should be performed to rule out myasthenia gravis.