| Split notochord syndrome with congenital unilateral Horner's sign. | |
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MedLine Citation:
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PMID: 18054693 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 2-year-old boy exhibited congenital right Horner's sign and right finger, wrist, and elbow flexion arthrogryposis. He had dyspnea and feeding difficulty 12 hours after birth. Radiologic examination revealed a thoracoabdominal intestinal tube and mediastinal cystic lesion at the right side, with vertebral anomaly at the cervical level. Histopathologically, the intestinal tube was diagnosed as bowel duplication. Because the mediastinal lesion could not be resected surgically, no histopathological diagnosis was made. Embryologically, the combination of transdiaphragmatic duplication, mediastinal cystic lesion, anterior spina bifida, and hemivertebra suggested notochord malformation. The diagnosis was split notochord syndrome, an extremely rare embryological malformation syndrome. Congenital unilateral Horner syndrome often has unknown etiology. In this case, cervical vertebral anomalies and mediastinal cystic lesion implied a compressed nerve root, resulting in Horner syndrome and right finger, wrist, and elbow flexion joint contracture. Split notochord syndrome should be included in differential diagnosis of congenital unilateral Horner syndrome. |
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Authors:
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Akira Kumakura; Tadamori Takahara; Junko Asada; Yasuhiro Matsukawa; Daisuke Hata |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 38 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2008 Jan |
Date Detail:
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Created Date: 2007-12-06 Completed Date: 2008-02-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 47-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Kitano Hospital, The Tazuke Kofukai Medical Research Institute, Osaka, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Arm / abnormalities Autonomic Pathways / injuries, physiopathology Cervical Vertebrae / abnormalities, physiopathology Child, Preschool Contracture / etiology, physiopathology Diagnosis, Differential Female Functional Laterality / physiology Horner Syndrome / congenital*, etiology*, physiopathology Humans Intestines / abnormalities, physiopathology Joints / abnormalities, physiopathology Magnetic Resonance Imaging Male Mediastinum / abnormalities, physiopathology Muscle, Skeletal / abnormalities, innervation Notochord / abnormalities* Radiculopathy / etiology, pathology, physiopathology* Rare Diseases Spinal Dysraphism / complications, physiopathology Spinal Nerve Roots / injuries*, pathology, physiopathology* Syndrome Tomography, X-Ray Computed |
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