Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology.
We describe two infants dying neonatally of respiratory failure despite all attempts at resuscitation. The most striking finding at autopsy was eventration and reduced muscle content of the diaphragm. Microscopic examination of the skeletal muscles, in combination with retrospective evaluation of the family history, disclosed severe X-linked centronuclear myopathy in the first patient and congenital myotonic dystrophy in the second. These disorders are probably more frequent than reported before. Their identification is important, not only for genetic counseling of the involved families but also for providing the neonatologist a sufficient explanation for the failure of resuscitation.
D003965:Diaphragmatic Eventration / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009224:Myotonia Congenita / Q000150:complications / Q000235:genetics; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology*; D014960:X Chromosome