O. Torbus, M. Jachimowicz. A. Pikiewicz-Koch, M. Mielczarek, *M. Pieta, *J. Glowacki

Department of Pediatric Gastroenterology, Allergology and Development Disorders, Zabrze, Silesian Medical School in Katowice, Poland. *Department of Radiology, Zabrze, Silesian Medical School in Katowice, Poland.


INTRODUCTION: The Jarcho - Levin syndrome is a genetically inherited disorder with characteristic bone anomalies of vertebras ( hemivertebras, fused, hypoplastic, "butterfly" vertebras ) and ribs. The chest sometimes has "crab-like" appearance. The patients has low stature, short neck and chest, normal limbs. The frequent respiratory tract infections and pro­gressive breathing insufficiency occures what can lead to death. The Jarcho-Levin syndrome can coexist with other defects. In our case it was syringomyelia, the development defect with cavities in different places of the spine. The syndroms of syringomyelia differ according to localisation in the spine. Paresthesias, sensibility disorders, pain, muscular atrophy, paresis, spastic paralysis and perfusion disorders can exist. The disease is progressive. The described case is unusual, because of coexistence of Jarcho-Levin syndrome and syringomyelia.

OBJECTIVE: The aim of the paper is a desciption of 15-year boy case with Jarcho-Levin syndrome with coexisting syringomyelia.

CASE REPORT: 15 -year old boy with marked deformation of the thorax was admitted to hospital because of a tumor which occured in the right supraclavicular fossa. In physical examination on the admission such abnormalities as growth and body mass deficit, lack of body proportions, marked biarcuate scoliosis of thoraco-lumbal spine, a mass in right supraclavicular fossa, respiratory effort and decreased deficiency were present. A X-ray and CT examinatins revealed complex anomaly a dys­trophy of upper and middle part of thoracic spina (a dysraphia type ) in a form of not fully develop rachischisis anterior and posterior in different vertebras. Together with described dysraphia chondro-osseus dysplasia in lateral segments of dysraphed vertebras coexisted. Vertebral canal in this part was dilatated. NMR examination showed a picture characteristic for syringomyelia. On a level of cervical and thoracic border ( C2 to Th1) in the spinal cord a great widenity with syringomyelia cavity ranged 3x2 cm was present. The Jarcho-Levin syndrome with syringomyelia was diagnosed.