title: [Coexistence of Jarcho-Levin syndrome, syringomyelia and osteoporosis in 15 years old boy].
abstract: Autosomally inherited Jarcho-Levin syndrome is an illness leading to death usually in the foetal, neonatal or infantile period or in early childhood. The children rarely survive to the age of adolescence. Hardly 130 cases of the syndrome were described up to now. There are two types of the syndrome: milder spondylocostal dysplasia (SCD) and more severe spondylothoracic dysplasia (STD)--the proper Jarcho-Levin syndrome. The authors present a case of coexistence of Jarcho-Levin syndrome with syringomyelia and osteoporosis in a 15 years old boy. His disease manifested itself in developmental anomaly of structure and segmentation of vertebrae, occult cervicothoracic spina bifida and characteristic crablike deformation of thorax. These anomalies led to kyphoscoliosis and considerable shortening of trunk as well as to the growth which increased the proportions of limbs length to the trunk and body height. The syndrome was accompanied by the syringomyelia in C5-Th1 segment and osteoporotic skeleton with significantly decreased bone density (in the L2-4 segment Z = -5.17). According to the best of our knowledge the presented case is the first description of the coexistence of Jarcho-Levin syndrome, syringomyelia and osteoporosis in world literature. The anomaly diagnosed as STD has also the features of SCD. The verification of the classification principles of Jarcho-Levin syndrome may take place in future basing on bigger number of observation and on genetics development.
authors.affiliation: Kliniki Gastroenterologii, Alergologii i Zaburzeń Rozwojowych Wieku Dzieciecego, Slaskiej Akademii Medycznej w Katowicach.
authors.forename: Onufry
authors.initials: O
authors.lastname: Torbus
authors.forename: Magdalena
authors.initials: M
authors.lastname: Jachimowicz
authors.forename: Marcin
authors.initials: M
authors.lastname: Pieta
authors.forename: Jan
authors.initials: J
authors.lastname: Głowacki
authors.forename: Krystyna
authors.initials: K
authors.lastname: Karczewska
authors.forename: Stanisław
authors.initials: S
authors.lastname: Skrzelewski
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D000293:Adolescent; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D010024:Osteoporosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013577:Syndrome; D013595:Syringomyelia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D013904:Thoracic Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging
vernacular_title: Współistnienie zespołu Jarcho-Levina, jamistości rdzenia kregowego i osteoporozy u 15-letniego chłopca.