Cleidocranial dysplasia and syringomyelia. Case report

Area of Science:

• Genetics and Developmental Biology
• Neurology
• Orthopedics

Background:

• Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal abnormalities, including delayed cranial suture ossification, hypoplastic clavicles, and dental anomalies.
• The genetic basis of CCD involves mutations in the RUNX2 gene, crucial for bone development.
• Syringomyelia and Chiari I malformation (CMI) are neurological conditions often associated with structural abnormalities of the skull base and spine.

Observation:

• A 24-year-old male patient diagnosed with Cleidocranial dysplasia (CCD) presented with symptoms suggestive of syringomyelia and Chiari I malformation (CMI).
• This specific co-occurrence of CCD with syringomyelia and CMI is exceptionally rare, with only three previous cases documented in the literature.
• Clinical examination and diagnostic imaging confirmed the presence of both CCD and the neurological conditions.

Findings:

• The study investigates the potential association between posterior fossa bone dysplasia, a common feature in CCD, and the pathogenesis of syringomyelia and CMI.
• Analysis suggests that bony abnormalities in the posterior cranial fossa, characteristic of CCD, may contribute to the development of CMI and syringomyelia.
• This case adds to the limited understanding of the complex interplay between skeletal dysplasia and neurological complications.

Implications:

• The findings suggest that patients with Cleidocranial dysplasia should be screened for neurological conditions like syringomyelia and Chiari I malformation.
• Understanding the role of posterior fossa bone dysplasia may lead to improved diagnostic and therapeutic strategies for patients with this rare combination of conditions.
• Further research is warranted to elucidate the precise mechanisms linking skeletal and neurological abnormalities in CCD.