Related Experiment Video
Updated: Jul 9, 2026
Spinal Cord Lateral Hemisection and Asymmetric Behavioral Assessments in Adult Rats
Published on: March 24, 2020
Split notochord syndrome with congenital unilateral Horner's sign
Akira Kumakura1, Tadamori Takahara, Junko Asada
1Department of Pediatrics, Kitano Hospital, The Tazuke Kofukai Medical Research Institute, Osaka, Japan.
Insights
Split notochord syndrome, a rare embryological malformation, can cause congenital Horner syndrome and arthrogryposis. This case highlights its importance in diagnosing unexplained Horner syndrome in infants.
Area of Science:
- Embryology
- Neurology
- Pediatric Surgery
Background:
- Split notochord syndrome is an extremely rare congenital malformation with diverse presentations.
- Congenital unilateral Horner syndrome often presents with an unknown etiology, posing diagnostic challenges.
Observation:
- A 2-year-old boy presented with congenital right Horner syndrome and right upper limb arthrogryposis.
- Radiological findings included a thoracoabdominal intestinal tube, mediastinal cystic lesion, and cervical vertebral anomalies.
- Histopathology confirmed bowel duplication; the mediastinal lesion remained undiagnosed due to unresectability.
Findings:
- The combination of findings suggested a notochord malformation, leading to a diagnosis of split notochord syndrome.
- Cervical vertebral anomalies and the mediastinal lesion likely caused nerve root compression, resulting in Horner syndrome and arthrogryposis.
Implications:
- Split notochord syndrome should be considered in the differential diagnosis of congenital unilateral Horner syndrome.
- This case underscores the complex interplay between embryological development and neurological/musculoskeletal manifestations.
- Early recognition of split notochord syndrome is crucial for appropriate management and understanding of associated congenital anomalies.
Abstract:
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.
Related Concept Videos
01:19Muscles that Move the Head
The bilateral sternocleidomastoid, or SCM, and the suprahyoid and infrahyoid muscles are significant head flexors. The SCM muscles originate at the sternum and clavicle and attach to the mastoid process of the temporal bone. The SCM contracts bilaterally to bend the head forward, whereas...
01:14Cranial Nerves: Types Part I
Olfactory Nerve (Cranial Nerve I)
The olfactory nerve, or cranial nerve I, is unique as it is purely sensory and dedicated to the sense of smell. This nerve originates in the olfactory epithelium of the...