Schwartz-Jampel syndrome with gastroduodenal bleeding

Polat I., KARAOĞLU P., YİŞ U., Kurul S. H.

JOURNAL OF PEDIATRIC NEUROSCIENCES, vol.11, no.3, pp.255-257, 2016 (ESCI, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 3
  • Publication Date: 2016
  • Doi Number: 10.4103/1817-1745.193351
  • Journal Name: JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.255-257
  • Keywords: Electromyography, muscle, myotonic discharges, Schwartz-Jampel syndrome
  • Dokuz Eylül University Affiliated: Yes

Abstract

Schwartz-Jampel syndrome is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. The patients with Schwartz-Jampel syndrome have muscle stiffness and electromyography reveals complex, repetitive discharges as myotonic discharges. It is unusual for a Schwartz-Jampel syndrome case to have recurrent gastrointestinal bleeding episodes. The stable endothelial barrier is provided by perlecan which is an important component of vascular structures. Thus, perlecan deficiency may cause recurrent gastroduodenal bleeding. Our report is unique with being the first reported Schwartz-Jampel syndrome case with gastrointestinal bleeding.