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Lumbo-costo-vertebral syndrome with posterior spinal dysraphism
G Samson Sujit Kumar1, Vaijayantee Kulkarni, R P Haran
1Department of Neurological Sciences, Christian Medical College and Hospital, Vellore, India. gsskcmc@yahoo.com
Neurology India
|October 19, 2005
Summary
Lumbo-costo-vertebral syndrome is a rare condition affecting the spine and ribs. This report details a unique case in an infant with absent ribs, spinal defects, and a lumbar hernia, highlighting a previously undocumented combination of anomalies.
Area of Science:
- Pediatric Medicine
- Medical Genetics
- Developmental Biology
Background:
- Lumbo-costo-vertebral syndrome is a rare congenital disorder characterized by vertebral, rib, and trunk muscle abnormalities.
- Existing literature reports limited cases, emphasizing the rarity of this condition.
Observation:
- A case study of an 18-month-old female infant presenting with absent ribs, hemivertebrae, and a superior lumbar hernia.
- The patient also exhibited posterior spinal dysraphism, a complex spinal malformation.
Findings:
- This case represents the first documented instance in English literature of lumbo-costo-vertebral syndrome combined with posterior spinal dysraphism.
- The specific constellation of absent ribs, hemivertebrae, superior lumbar hernia, and spinal dysraphism is unique.
Implications:
- This finding expands the known spectrum of lumbo-costo-vertebral syndrome presentations.
- Further research into the embryological origins and management strategies for this rare combination of defects is warranted.