[Caudal regression syndrome: about a case]

Area of Science:

• Pediatric Genetics
• Developmental Biology
• Teratology

Background:

• Caudal regression syndrome (CRS) is a rare congenital disorder characterized by incomplete development of the lower spine and limbs.
• While its association with maternal diabetes is known, the precise etiology remains unclear.
• CRS can present with a spectrum of abnormalities, including vertebral agenesis and malformations of the gastrointestinal, genitourinary, and cardiovascular systems.

Observation:

• A rare case of caudal regression syndrome was observed in an 8-month-old infant.
• The infant presented with a polymalformative syndrome, including sacral and coccygeal agenesis and lower limb abnormalities.
• The infant also experienced chronic constipation, a less commonly reported symptom in CRS.

Findings:

• This case reinforces the link between maternal diabetes and caudal regression syndrome.
• The polymalformative nature of the syndrome was evident, affecting multiple organ systems.
• Chronic constipation was a significant clinical manifestation in this infant with CRS.

Implications:

• Further research into the molecular mechanisms linking gestational diabetes to CRS is warranted.
• Early recognition and management of associated complications, such as chronic constipation, are crucial for improving patient outcomes.
• This case underscores the importance of comprehensive evaluation in infants diagnosed with caudal regression syndrome.