1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2-67-a 10.15844/pedneurbriefs-2-9-4 Neonatal Neuromuscular Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Congenital Myotonic Dystrophy and Pleural Effusion http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 09 1988 01 08 2016 2 9 67 67 Copyright: © 1988 The Author(s) 1988 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Hydrops and pleural effusions in congenital myotonic dystrophy

Two infants with congenital myotonic dystrophy complicated by pleural effusions and hydrops fetalis are reported from the Valley Children’s Hospital, Fresno, CA, and the Royal Alexandra Hospitals, University of Alberta, Edmonton, Alberta, Canada.

 Congenital Myotonic Dystrophy Breathe Spontaneously Asymptomatic

Two infants with congenital myotonic dystrophy complicated by pleural effusions and hydrops fetalis are reported from the Valley Children’s Hospital, Fresno, CA, and the Royal Alexandra Hospitals, University of Alberta, Edmonton, Alberta, Canada. The mothers had myotonic dystrophy diagnosed at or after the delivery. The pregnancies were complicated by polyhydramnios, and the infants were delivered by cesarean section because of breech presentation. Infant 1 was areflexic, profoundly hypotonic, failed to breathe spontaneously, and died at 3 days of age. Muscle biopsy at autopsy revealed extreme muscle immaturity with poor type I/II fiber differentiation, type I and type lie fibers, and central nucleation. Infant 2 died 25 min after delivery despite aggressive resuscitation. The authors cite 6 other cases of congenital myotonic dystrophy with fetal hydrops and 2 with pleural effusions. Fetal hydrops may obscure the diagnosis, especially if the mother is asymptomatic. [1]

COMMENT. Chromosomal defects, cardiac abnormalities, and genetic syndromes are described with fetal hydrops but congenital myotonic dystrophy has been associated infrequently. When a mother is known to have myotonic dystrophy, the fetus should be monitored for abnormal breathing patterns and pleural effusions. A hypotonic infant born with pleural effusion or hydrops should alert the examiner to check for myotonia in the mother. (See Ped Neur Briefs Sept 1987;1 :29-30).

 Curry CJ Chopra D Finer NN Hydrops and pleural effusions in congenital myotonic dystrophy J Pediatr 1988 Sep 113 3 555 7 10.1016/S0022-3476(88)80651-6 3411403