Neuropediatrics 2017; 48(S 01): S1-S45
DOI: 10.1055/s-0037-1602942
PP – Poster Presentations
Georg Thieme Verlag KG Stuttgart · New York

Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency

I. Zeile
1   Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany
,
M. Stampfer
2   Institute of Medical Genetics and Applied Genomics, University of Tubingen, Tubingen, Germany
,
U. Schara
3   Department of Neuropediatrics, Developmental Medicine and Social Pediatrics, University Children's Hospital Essen, University Duisburg-Essen, Duisburg, Germany
,
S. Redler
4   Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany
,
E. Mayatepek
1   Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany
,
T. B. Haack
2   Institute of Medical Genetics and Applied Genomics, University of Tubingen, Tubingen, Germany
,
F. Distelmaier
1   Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
26 April 2017 (online)

 

Background: Mutations in PREPL are a rare cause of congenital myasthenic syndrome. PREPL encodes the prolyl endopeptidase-like enzyme, which plays an important role for vesicular transport of the acetylcholine receptor. So far, only a single case of isolated PREPL deficiency has been reported in the literature. The child presented as a floppy baby and showed developmental delay.

Case Report: The girl was born at term from non-consanguineous healthy parents after normal pregnancy and birth. The newborn had a global hypotonia presented with floppy infant syndrome and feeding difficulties, so feeding was performed by a nasogastric tube. Furthermore, a pronounced motoric retardation developed over the course of time. Diagnostic examinations including CMR, electrophysiology, metabolic testing, and muscle biopsy were negative. Whole-exome sequencing uncovered compound heterozygous mutations in PREPL.

Conclusion: PREPL deficiency should be considered in newborns with suspected congenital myasthenic syndrome/floppy infant syndrome. So far, no effective causal treatment options are available and current literature suggests no benefits of pyridostigmine therapy.