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)

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    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.


     

    No conflict of interest has been declared by the author(s).