Split notochord syndrome with congenital unilateral Horner's sign.
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.
Kumakura
Akira
A
Department of Pediatrics, Kitano Hospital, The Tazuke Kofukai Medical Research Institute, Osaka, Japan.
Takahara
Tadamori
T
Asada
Junko
J
Matsukawa
Yasuhiro
Y
Hata
Daisuke
D
D000328:Adult; D001132:Arm / Q000002:abnormalities; D017776:Autonomic Pathways / Q000293:injuries / Q000503:physiopathology; D002574:Cervical Vertebrae / Q000002:abnormalities / Q000503:physiopathology; D002675:Child, Preschool; D003286:Contracture / Q000209:etiology / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D007839:Functional Laterality / Q000502:physiology; D006732:Horner Syndrome / Q000151:congenital* / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D007422:Intestines / Q000002:abnormalities / Q000503:physiopathology; D007596:Joints / Q000002:abnormalities / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008482:Mediastinum / Q000002:abnormalities / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000002:abnormalities / Q000294:innervation; D009672:Notochord / Q000002:abnormalities*; D011843:Radiculopathy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology*; D035583:Rare Diseases; D016135:Spinal Dysraphism / Q000150:complications / Q000503:physiopathology; D013126:Spinal Nerve Roots / Q000293:injuries* / Q000473:pathology / Q000503:physiopathology*; D013577:Syndrome; D014057:Tomography, X-Ray Computed