THE JARCHO-LEVIN
SYNDROME AND SYRINGOMYELIA IN A 15-YEARS OLD BOY
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.