CONGENITAL DYSTROPHIA MYOTONIA CURSHMANN- STEINERT-BATTEN-SYNDROME

The subject of this report is a newborn female, suffering from hypoton ia and breathing difficulties, delivered in the 37 week with the help of forceps. Because of the nature of her symptons and those of the mot her, which included Facies myopathica and Myotonia, the possibility of the expansion of a CTG-Trinukleotidsequence in the area of Chromosom 19 was explored. For this purpose a technique, developed in 1992, for the identification of molecular genetic characteristics was used. Inst ead of the 5 to 27 copies of the CTG sequence normally found in the po pulation, the sick child had 1000 and the mother more than 700. EMG, i n which a classical relases of myotones (Fall-Fight-Bomberscream) were found, confirmed the neurological diagnosis. Discussion: In the cours e of time the newborn child showed the classical problems of hyptotoni a, such as respiratory difficulties, eating disorders leading to a los s of weight, meteroism, and after another stay in hospital, symptoms o f Ileus.