| CASE REPORT |
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| Year : 2016 | Volume
: 11
| Issue : 3 | Page : 255-257 |
Schwartz–Jampel syndrome with gastroduodenal bleeding
Ipek Polat, Pakize Karaoğlu, Uluç Yis, Semra Hiz Kurul
Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey
Correspondence Address:
Ipek Polat
Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylul University, Izmir
Turkey
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1817-1745.193351
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.
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