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Split cord malformation in two sisters
Yusuf Erşahin1, Omer Kitiş, Kazim Oner
1Division of Pediatric Neurosurgery, Department of Neurosurgery, Ege University Faculty of Medicine, Izmir, Turkey. ersahin@med.ege.edu.tr
Pediatric Neurosurgery
|November 2, 2002
Summary
Split cord malformations (SCMs), rare congenital spinal anomalies, are exceptionally uncommon in siblings. This report details two sisters diagnosed with different SCM types, highlighting the condition
Area of Science:
- Neurology
- Genetics
- Developmental Biology
Background:
- Split cord malformations (SCMs) are rare congenital anomalies affecting the spinal cord.
- While SCMs are more prevalent in females, familial occurrences are exceedingly rare.
Observation:
- This case study presents two sisters with SCM, a highly unusual familial presentation.
- Both sisters exhibited hypertrichosis and pes cavus, alongside distinct SCM types (Type I and Type II) and spinal cord tethering.
Findings:
- The two sisters, aged 10 and 8, were diagnosed with Type I and Type II SCM respectively.
- Both patients underwent surgical intervention for their spinal anomalies with successful postoperative outcomes.
Implications:
- This case adds to the limited data on familial SCM, suggesting potential genetic factors.
- The observed sex predilection in SCM warrants further investigation with larger cohort studies.