CASE 65
By: Dr. Amna Kashgari MD,SSC-Rad
HISTORY: Dysmorphic infant.
What are your findings?
What is your diagnosis?
Mention three association.
FINDINGS:
Anteroposterior and Lateral Radiographs (A) of the sacrum spine revealed complete absence of the sacrum with apposition of both iliac blades which articulate with L5 vertebra.
Sagittal T2-weighted image (b) of L-spine MRI show agenesis of the sacrum and coccyx. The spinal cord terminates above L1 with club-shaped blunted and angulated caudal end. Separation of the anterior and posterior spinal roots of the cauda equina is also noted. Distended urinary bladder with coarse trabeculation pattern noted due to neurogenic bladder.
DIAGNOSIS:
Caudal regression syndrome (Sacral agenesis syndrome).
Association:
Neurogenic bladder.
Lung hypoplasia.
Anorectal malformation.
PEARLS AND DISCUSSION:
Caudal regression syndrome is a midline closure defect of neural tube with spectrum of malformation characterized by absent of the distal part of the vertebra and spinal cord.
It is usually sporadic. It has been absorbed in children of diabetic mother.
Types:
Type I: Unilateral agenesis localized to sacrum or coccyx.
Type II: Partial agenesis with iliac bone articulates with S1.
Type III: Total sacral agenesis with iliac bones articulate with the lowest lumbar element.
Type IV: Total sacral agenesis with iliac bones fuse posteriorly.
Association:
Not associated with VATER syndrome:
Spinal anomalies include: Truncated blunt spinal cord terminating above the expected level (wedged shaped conus medullaris).
Other anomalies: Diastematomyelia, syrinx, terminal hydromyelia, myelomeningocele, tethered cord and vertebral anomalies.
Genitourinary abnormalities: Neurogenic bladder (if more than 2 segments are absent).
Other anomalies include renal agenesis or hydronephrosis, various forms of duplication of the Mullerian ducts:
Anorectal anomalies, particularly anal atresia.
Congenital cardiovascular anomalies.
Pulmonary hypoplasia.
MRI:
Type 1: The conus medullaris is blunt and terminates above the normal level.
Type 2: The conus medullaris is elongated and tethered by a thickened filum terminale or intraspinal lipoma and ends below the normal level.
FURTHER READING:
Walfgang Dahnert : Radiology review manual .ISBN-13:978-0-7817-6620-3
