Congenital thoracic cord segmental amyelia: a rare manifestation of segmental spinal dysgenesis.
Segmental spinal dysgenesis (SSD) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop properly. We report a case of a 4-year-old female child who was born prematurely with a permanent neurological deficit in the lower limbs and sphincter incontinence. Radiological investigations revealed segmental agenesis of the thoracic spinal cord (D8-D11 vertebral levels) with an associated vertebral bony anomaly. The pathogenesis of this rare form of SSD syndrome is discussed and the relevant literature is briefly reviewed.
Desai
Ketan
K
Department of Neurosurgery, King Edward Memorial Hospital, Seth GS Medical College, Parel, Mumbai, India. drketandesai@hotmail.com
Nadkarni
Trimurti
T
Bhayani
Rajendra
R
Goel
Atul
A
D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis; D008159:Lumbar Vertebrae / Q000002:abnormalities / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009192:Myelography; D009460:Neurologic Examination; D013116:Spinal Cord / Q000002:abnormalities* / Q000473:pathology; D016135:Spinal Dysraphism / Q000175:diagnosis*; D013904:Thoracic Vertebrae / Q000002:abnormalities* / Q000473:pathology; D014057:Tomography, X-Ray Computed