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Two cases of Van Buchem's disease
Journal of Neurology, Neurosurgery, and Psychiatry
|October 1, 1982
Summary
Van Buchem's disease, a rare genetic disorder, can cause serious neurological issues like increased intracranial pressure. Early surgical intervention in affected siblings helped maintain cognitive function and longevity.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Hyperostosis corticalis generalisata familiaris (van Buchem's disease) is a rare autosomal recessive genetic disorder.
- The condition is characterized by progressive hyperostosis of the skeleton, particularly the skull.
Observation:
- A brother and sister with van Buchem's disease presented with symptoms of raised intracranial pressure in early adulthood.
- Both underwent partial craniectomy, which preserved normal intellectual function and allowed them to survive to old age.
Findings:
- In later life, one sibling developed cerebellar deficits due to posterior cranial fossa bony encroachment.
- The other sibling experienced spastic paraparesis from spinal cord compression.
Implications:
- This case highlights the potential benefits of surgical decompression for raised intracranial pressure in van Buchem's disease.
- Understanding the autosomal recessive inheritance pattern is crucial for genetic counseling and family planning.