[A neonatal case of congenital myotonic dystrophy].
Congenital myotonic dystrophy is a rare autosomal disease, caused by an increased number of cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19q. In the neonatal period the most peculiar clinical features are arthrogryposis, hypotonia, facial diplegia, respiratory and feeding difficulties. Clinical and electrical myotonic discharges are difficult to elicit in the newborn. We report a case of congenital myotonic dystrophy in a female newly born presenting with hypotonia, diaphragmatic paralysis, facial diplegia, and contractures of hips, knees and ankles. The diagnosis was confirmed by genetical study on lymphocyte DNA.
Ghizzi
C
C
Divisione di Pediatria Ospedale Civile Maggiore, Verona.
Cavalli
C
C
Benedetti
M
M
Bolognani
M
M
Biban
P
P
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009223:Myotonic Dystrophy / Q000151:congenital* / Q000175:diagnosis