Samuel Stafrace (Raigmore Hospital/Inverness/Scotland), H. Shannon (Raigmore Hospital/Inverness/Scotland)  

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3 Years  

Female  

3 year old girl with chronic constipation, repeated urinary infections and delayed milestones.  

Congenital developmental abnormality of neural tube - related to maternal diabetes in 20%.
Recent literature may suggest relation to vascular developmental anomaly.
 

<- view MRI 1

MRI 1: Sagittal T2 weighted MRI of the spine shows a truncated appearence of the lower cord and absence of the lower sacral elements. A grossly distended bladder is also noted.


<- view MRI 2

MRI 2: Axial T2 image of the kidneys shows a dilated left renal system.

Expert's opinion  

Nil  

1:7500 births
Results in lower limb abnormalities, spinal cord abnormalities, urinary tract anomalies secondary to neurogenic bladder and chronic constipation.  

Excellent example showing sacral, urinary and cord abnormalities.
 

N/A  

Barkovich AJ, Raghavan N, Chuang S, Peck WW.
The wedge-shaped cord terminus: a radiographic sign of caudal regression.
AJNR Am J Neuroradiol. 1989 Nov-Dec;10(6):1223-31

Pang D
Sacral agenesis and caudal spinal cord malformations.
Neurosurgery. 1993 May;32(5):755-78; discussion 778-9.

Hentschel J, Stierkorb E, Schneider G, Goedde S, Siemer S, Gortner L.
Caudal regression sequence: vascular origin?
J Perinatol. 2006 Jul;26(7):445-7

 

Spinal canal / Myelon  

congenital