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[Sturge-Weber syndrome with atypical calcifications]
M L Prieto1, J de Juan, M Antón
1Departamento de Pediatría, Hospital Central de Asturias, Universidad de Ovieda, España.
Revista De Neurologia
|February 12, 1998
Summary
Sturge-Weber syndrome (SSW) is a rare neuro-ectodermal disorder. This case highlights atypical calcifications and the diagnostic value of cranial CT and cerebral SPECT scans for SSW.
Area of Science:
- Neurology
- Medical Imaging
- Genetics
Background:
- Sturge-Weber syndrome (SSW) is a rare neuro-ectodermal disorder characterized by facial angiomas, leptomeningeal vascular anomalies, and neurological symptoms like epilepsy.
- It often leads to cerebral hemi-atrophy and characteristic "railway line" calcifications.
Observation:
- A six-month-old girl presented with a port-wine angioma affecting the left face and body, with partial motor seizures.
- Cranial CT revealed left periventricular and choroid plexus calcifications.
- Gadolinium-enhanced MRI showed left cerebral hemi-atrophy, and cerebral SPECT indicated left temporal hypoperfusion.
Findings:
- The case presented atypical calcifications in terms of location and age of onset.
- Cranial CT identified calcifications not visible on skull X-rays or MRI.
- Cerebral SPECT confirmed hypoperfusion, proving its utility as a complementary diagnostic tool.
Implications:
- This case underscores the importance of cranial CT in diagnosing SSW, especially when initial imaging is inconclusive.
- Cerebral SPECT is a valuable complementary technique for assessing cerebral perfusion in SSW.
- Early and accurate diagnosis through advanced imaging is crucial for managing SSW complications.