[Caudal regression syndrome - caudal agenesis]

Area of Science:

• Neurology
• Pediatrics
• Genetics

Background:

• Neural tube defects arise from complex genetic and environmental influences.
• Caudal regression syndrome is a specific congenital anomaly linked to maternal diabetes mellitus.

Observation:

• A 4-year-old boy presented with enuresis, encopresis, and a short anal cleft.
• Maternal history revealed insulin-dependent diabetes mellitus during pregnancy.
• Spinal MRI showed thoracic syringomyelia, dysplastic conus medullaris, and sacral/coccygeal agenesis.

Findings:

• Caudal regression syndrome involves sacral agenesis and spinal cord anomalies like syringomyelia.
• Sacral agenesis is characterized by partial or complete absence of the sacrum and coccyx.
• The case illustrates caudal agenesis with associated spinal abnormalities.

Implications:

• An abnormal sacrum and a history of maternal diabetes mellitus strongly suggest caudal regression syndrome.
• This highlights the importance of considering maternal health factors in congenital anomalies.
• Further research into the genetic and environmental interplay of neural tube defects is warranted.