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Computed tomography in Sjögren-Larsson syndrome
J M Gomori1, V Leibovici, A Zlotogorski
1Department of Radiology, Hadassah University Hospital, Jerusalem, Israel.
Neuroradiology
|January 1, 1987
Summary
Sjögren-Larsson syndrome, a rare genetic disorder, was studied in a family. CT scans revealed distinctive white matter abnormalities in affected siblings, aiding in diagnosis.
Area of Science:
- Neurology
- Medical Genetics
- Radiology
Background:
- Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder.
- SLS is characterized by ichthyosis, spasticity, and intellectual disability.
- The neuroimaging findings in SLS are not well-characterized.
Purpose of the Study:
- To clinically investigate a family with multiple affected individuals with Sjögren-Larsson syndrome.
- To identify characteristic neuroimaging findings in Sjögren-Larsson syndrome using computed tomography (CT).
Main Methods:
- Clinical assessment of a family with 12 children, including 6 diagnosed with Sjögren-Larsson syndrome.
- Computed tomography (CT) brain scans were performed on affected and unaffected family members.
Main Results:
- All six siblings with Sjögren-Larsson syndrome exhibited patchy white matter hypodensities on CT.
- These white matter abnormalities were most prominent in the frontal lobes and confluent in severe cases.
- CT scans of unaffected siblings and the mother were normal.
Conclusions:
- Patchy white matter hypodensity, particularly in the frontal lobes, is a significant CT finding in Sjögren-Larsson syndrome.
- CT neuroimaging can aid in the diagnosis and assessment of disease severity in Sjögren-Larsson syndrome.