Author/Editor     Neubauer, D; Kopač, Š
Title     A case of congenital myotonic dystrophy with hydrocephalus and infantile spasms
Type     članek
Source     In: Zidar J, editor. Proceedings of the Symposium on update in neurogenetics with 12th dr. Janez Faganel memorial lecture; 1996 Oct 4-5; Ljubljana. Ljubljana: University institute of clinical neurophysiology,
Publication year     1996
Volume     str. 79-82
Language     eng
Abstract     A femal enewborn is presented whose mother and grandfather were known to have myotonic dystrophy. Despite this clear family history spontaneous preterm delivery occured, resulting in perinatal hypoxia. Partly on account of this fact further complications have emerged and have resulted in severe handicap. The child has now profound developmental delay, severe epilepsy and shunted hydrocephalus. The question exists whether such a condition could be avoided with better antenatal care depending on certain available diagnostic procedures or was this a severity of the disease which expressed itself with so many perinatal complications.
Descriptors     MYOTONIA ATROPHICA
INFANT, NEWBORN