Craniometaphysial dysplasia with leukoencephalopathy. A case report

Area of Science:

• Neurology
• Skeletal Dysplasias
• Neuro-oncology

Background:

• Craniometaphysial dysplasia is a rare genetic disorder characterized by progressive ossification of cranial and facial bones.
• Skeletal abnormalities can lead to secondary neurological complications due to structural impingement.

Observation:

• A patient with craniometaphysial dysplasia presented with extensive cerebral white matter degeneration and gliosis.
• Significant skull thickening and sclerosis were noted, with thin cortex and trabecular atrophy in long bones.
• Cervical spinal cord compression, atrophy, and degeneration were observed secondary to a narrowed foramen magnum and vertebral deformities.

Findings:

• Diffuse cerebral white matter changes resembling those from a compromised great vein of Galen.
• Secondary wallerian degeneration and focal neurolytic lesions in the cervical and thoracic spinal cord.
• A malacic lesion at Th11 suggested circulatory compromise possibly due to vertebral column deformity.

Implications:

• This case underscores the potential for severe neurological sequelae in craniometaphysial dysplasia.
• Findings suggest a link between skeletal deformities and vascular compromise affecting the central nervous system.
• Further research into the vascular mechanisms in skeletal dysplasias is warranted.