A Case of Congenital Myotonic Dystrophy.

Lee,  Taek Jin; Kim,  Kyung Sik; Namgung,  Ran; Park,  Kook In; Lee,  Chul; Lee,  Young Mock; Lee,  Jin Sung; Kim,  Tae Seung

Case Report

Journal of the Korean Society of Neonatology 2002;9(2):204-210.
Published online November 1, 2002.

A Case of Congenital Myotonic Dystrophy.

Taek Jin Lee, Kyung Sik Kim, Ran Namgung, Kook In Park, Chul Lee, Young Mock Lee, Jin Sung Lee, Tae Seung Kim

¹Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. ranng@yumc.yonsei.ac.kr
²Department of Clinical Genetics, Yonsei University College of Medicine, Seoul, Korea.
³Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.

선천성 근긴장성 이영양증 1례

^, ^, ^, ^, ^, ^, ^,

^¹
^²
^³

Abstract

Congenital myotonic dystrophy is an almost always maternally-inherited autosomal dominant multisystem disorder of variable clinical expressions characterized by hypotonia and frequent respiratory distress at birth. The muscle weakness may be so severe, it may lead to death in the newborn period. We report a case of congenital myotonic dystrophy in a 34 weeks of gestational age premature infant born to a mother with polyhydramnios, presenting with hypotonia, respiratory insufficiency, feeding difficulties and arthrogryposis. A brief review of literature is given.

Key Words: Congenital myotonic dystrophy; Hypotonia; Respiratory insufficiency; Newborn