Caudal regression syndrome associated with left isomerism

Case contributed by Dr Mohammadtaghi Niknejad

Presentation

The pelvic deformity includes narrow pelvis, hypoplastic gluteal muscles, and shallow intergluteal cleft.

Patient Data

Age: 45 years
Gender: Male

Complete absence of the sacrococcyx and L4 and L5 vertebrae and partial absence of the L3 vertebra are seen, causing a narrow pelvis.

Several coarse calcified foci are also observed in the lower portion of the pelvic cavity.

Degenerative changes such as joint space narrowing and subchondral sclerosis are seen in both hip joints.

The sacrococcyx and L4 and L5 vertebrae are entirely absent, accompanied by partial absence of the L3 vertebra, inferring caudal regression syndrome.

In addition, some associated abnormalities are evident consistent with left isomerism, including:

Mild dilatation of the left urinary drainage system is seen, and the urinary collecting system of the right kidney and the right ureter are duplicated. 

The urinary bladder is overdistended. 

The prostate gland is enlarged and contains multiple dense calcified foci. Calcification is also present in vas deferens. 

Case Discussion

Caudal regression syndrome is rare, and malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis. There is no gender predilection.

Most cases are sporadic; however, familial cases occasionally occur. An association with VACTERL and Currarino triad syndromic complexes has been reported, but caudal regression syndrome with left isomerism is very rare and just reported in a few cases worldwide. 

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