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The co-occurrence of Chiari type 1 malformation with syringomyelia and total situs inversus

Yurdal Serarslan, Ismet M Melek, Taşkin Duman, Turali Eraslan, Gökhan Akdemir, Fatih Yalçin

Med Sci Monit 2007; 13(9): CS110-113

ID: 498411

Background: Total situs inversus (TSI) is a rare congenital anomaly that often occurs concomitantly with other disorders. TSI is the complete left-to-right inversion of the thoracic and abdominal organs. It develops due to an abnormal rotation of the cardiac tube during embryogenesis, the mechanism of which is of unknown mechanism. Syringomyelia (SM) is an uncommon disease of the spinal cord and is known as the occurrence of a cystic space in the middle of the spinal cord. SM occurs due to spinal cord injury, a primary tumor of the spinal cord, or an extramedullary lesion at the foramen magnum such as a Chiari type 1 malformation (CM1). In the literature there has been reported association of CM1 and SM (CM1/SM) with known genetic syndromes.
Case Report: We report a 33-year-old female with CM1/SM coexisting with TSI. Our patient presented with pain in the neck, arm, and upper back. She had no trauma history. There was dysesthesia in the cervical-2 dermatomes. Radiological tools revealed that CM1/SM with TSI accompanied by no other abnormality.
Conclusions: It can be suggested that the existence of this case indicates that genetic factors may influence the pathogenesis of some CM1/SM cases.

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