Congenital neonatal myotonic dystrophy with persistent pulmonary hypertension and coma: a difficult diagnosis.
The fulminant forms of congenital myotonic dystrophy, which rapidly lead to death, are difficult to diagnose. The case described illustrates the roles of persistent pulmonary hypertension in such a fatal form.
Cantagrel
S
S
Pediatric Intensive Care Unit, Clocheville Hospital, Tours, France.
Chamboux
C
C
Toutain
A
A
Laugier
J
J
D002888:Chromosomes, Human, Pair 19; D003128:Coma / Q000209:etiology*; D004247:DNA / Q000032:analysis; D017809:Fatal Outcome; D005260:Female; D005532:Foot Deformities, Congenital; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000175:diagnosis*; D007231:Infant, Newborn; D009154:Mutation; D009223:Myotonic Dystrophy / Q000150:complications / Q000151:congenital* / Q000175:diagnosis*; D011247:Pregnancy
D004247:DNA