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Intracranial calcification in Raine syndrome: radiological pathological correlation
K al-Mane1, F al-Dayel, P McDonald
1Department of Medical Imaging, King Fahad National Guard Hospital, P. O. Box 22490, Riyadh 11426, Saudi Arabia.
Pediatric Radiology
|November 3, 1998
Summary
This report details the seventh patient diagnosed with Raine syndrome, a rare lethal bone disorder. CT scans revealed severe craniofacial abnormalities and intracranial calcification, correlating with autopsy findings.
Area of Science:
- Medical Genetics
- Developmental Biology
- Radiology
Background:
- Raine syndrome is a rare, lethal sclerosing bone dysplasia characterized by severe craniofacial abnormalities and intracranial calcification.
- This condition presents a significant diagnostic and research challenge due to its extreme rarity.
Observation:
- This study presents the seventh documented case of Raine syndrome.
- Computed tomography (CT) findings in the patient are meticulously correlated with post-mortem gross and microscopic examination of the brain.
Findings:
- The CT imaging demonstrated characteristic features of Raine syndrome, including severe craniofacial dysmorphism and intracranial calcification.
- Autopsy revealed significant gross and microscopic abnormalities in the brain, providing a direct correlation with the in-vivo imaging.
Implications:
- This case contributes valuable data to the understanding of Raine syndrome's pathophysiology and phenotypic spectrum.
- Correlating imaging with autopsy findings enhances diagnostic accuracy and aids in the study of this rare genetic disorder.