Caudal regression syndrome without maternal diabetes mellitus

Area of Science:

• Pediatric Neurology
• Developmental Biology
• Medical Genetics

Background:

• Caudal regression syndrome (CRS) is a rare congenital disorder affecting the development of the caudal (tail) end of the spine and spinal cord.
• It presents with a spectrum of anomalies, ranging from mild vertebral defects to complete agenesis of the lumbar spine, sacrum, and coccyx.
• While maternal diabetes is a known risk factor, CRS can occur in non-diabetic pregnancies.

Observation:

• A preterm newborn presented with respiratory distress syndrome and bilateral knee contractures.
• Clinical examination and radiographic skeletal survey revealed a short spinal cord.
• Complete agenesis of the lumbar, sacrum, and coccygeal spine was noted, along with hypoplastic iliac bones and bilateral knee contractures.

Findings:

• The infant exhibited a severe form of caudal regression syndrome.
• The absence of maternal diabetes in this case suggests other potential etiologies for CRS.
• The combination of spinal agenesis and severe limb contractures presents a complex clinical picture.

Implications:

• This case underscores the importance of recognizing the diverse presentations of caudal regression syndrome.
• Further research is needed to elucidate the long-term outcomes and management strategies for infants with CRS, particularly in resource-limited settings.
• Understanding the etiology of CRS in non-diabetic pregnancies is crucial for improved diagnosis and counseling.