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An approach to ventilator-dependent neonates with arthrogryposis
1Joint Program in Neonatology, Harvard Medical School, Boston, MA 02115.
Pediatrics
|November 1, 1994
Summary
Neonates with arthrogryposis multiplex congenita requiring ventilator support at birth have a poor prognosis. Autopsies revealed central nervous system malformations, neuropathies, or myopathies as common causes of death.
Area of Science:
- Neonatal Medicine
- Neurology
- Genetics
Background:
- Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by multiple congenital contractures.
- Neonates with AMC may present with severe respiratory insufficiency requiring mechanical ventilation.
Purpose of the Study:
- To identify clinical factors and test results for diagnosis and prognosis in neonates with AMC and respiratory insufficiency.
- To determine the underlying etiologies and outcomes in this patient population.
Main Methods:
- Retrospective review of 15 newborns with AMC requiring ventilator support at birth (1980-1990).
- Data collected using a 104-item database and analyzed with the Clinfo program.
Main Results:
- 14 out of 15 patients (93%) died, with 13 electively extubated.
- Autopsies revealed equal distribution of central nervous system (CNS) malformations, peripheral neuropathies, and peripheral myopathies.
- The single survivor was diagnosed with myasthenia gravis.
Conclusions:
- Ventilator dependence at birth in neonates with AMC indicates a poor prognosis.
- Prenatal factors like decreased fetal movements, polyhydramnios, micrognathia, and thin ribs may predict respiratory issues.
- Diagnostic studies can localize abnormalities to CNS, peripheral nerves, or muscles; an edrophonium chloride test is crucial to rule out myasthenia gravis before support withdrawal.