Currarino syndrome and spinal dysraphism

Area of Science:

• Genetics and Developmental Biology
• Pediatric Surgery
• Neurology

Background:

• Currarino syndrome is a rare congenital anomaly defined by sacral dysgenesis, presacral mass, and anorectal malformation.
• MNX1 gene mutations are implicated in most Currarino syndrome cases.
• Occult spinal dysraphism frequently co-occurs with Currarino syndrome.

Observation:

• A rare case of Currarino syndrome presented with tethered cord syndrome, dorsal lipomyelomeningocele, presacral intradural spinal lipoma, imperforate anus, and scimitar sacrum.
• The patient's spinal lipoma was continuous with the presacral mass.
• This case underscores the complex spinal manifestations associated with Currarino syndrome.

Findings:

• Approximately 60% of reported Currarino syndrome patients exhibit occult spinal dysraphism.
• The literature review indicates a higher incidence of tethered cord syndrome in patients with spinal lipomas.
• Conversely, teratomas or anterior meningoceles may be associated with a lower risk of tethered cord syndrome.

Implications:

• Early recognition of spinal anomalies is crucial in infants diagnosed with Currarino syndrome.
• Understanding the specific type of spinal anomaly may help predict the risk of tethered cord syndrome.
• This case and literature review emphasize the importance of comprehensive neurospinal evaluation in Currarino syndrome.