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Case Reports
. 2018 Jul:26:56-58.
doi: 10.1016/j.spen.2017.03.006. Epub 2017 Apr 13.

The Curse of Apneic Spells

Josefine Radke  1 , Mona Dreesmann  2 , Michael Radke  3 , Arpad von Moers  4 , Angela Abicht  5 , Werner Stenzel  6 , Hans H Goebel  7
Affiliations
Case Reports

The Curse of Apneic Spells

Josefine Radke et al. Semin Pediatr Neurol. 2018 Jul.

Abstract

A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and DMPK genes, the RAPSN gene revealed one known mutation, p.Asn88Lys, from the mother, and one novel mutation, p.Cys366Gly, from the father. Life-saving pyridostigmine treatment suppressed her apneic spells and improved her motor development.

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Comment in

  • Editorial (To Follow Cases #9-12).
    Bodensteiner JB. Bodensteiner JB. Semin Pediatr Neurol. 2018 Jul;26:59. doi: 10.1016/j.spen.2017.03.025. Epub 2017 Apr 19. Semin Pediatr Neurol. 2018. PMID: 29961521 No abstract available.

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