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DOI: 10.1055/s-0037-1602942
Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency
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.