[Sturge-Weber syndrome with atypical calcifications].
BACKGROUND
The syndrome, or disease, or Sturge Weber (SSW) is a neuro-ectodermic disorder of unknown incidence, sporadic presentation and specific sex incidence. It is characterized by the presence of a flat, facial angioma which affects at least the first branch of the trigeminal nerve, association with ipsilateral leptomeningeal vascular anomalies, one or more symptoms (epilepsy, hemiparesia, hemiplegia or mental retardation) and ipsilateral vascular lesions of the choroid which lead to glaucoma. As a consequence of lepto-meningeal involvement, homolateral cerebral hemi-atrophy develops together with cortico-subcortical calcifications with a characteristic "railway line" appearance.


METHODS
We present the case of a six month old girl with a flat port wine angioma on the left half of her face, including three branches of the trigeminal nerve and the left half of her body. She had partial motor crises of the right leg. On the cranial CT there were left periventricular calcifications and calcifications of the choroid plexus. Gadolinium-MR showed signs of left cerebral hemi-atrophy, which was confirmed on the cerebral SPECT (left temporal hypoperfusion).


CONCLUSIONS
This case is interesting on account of the presence of atypical calcifications, both with regard to the sites and age of presentation. We emphasize the need for cranial CT to rule out the presence of calcifications, (as in this case) not seen on Xray of the skull or on MR. We favour the use of cerebral SPECT as a complementary diagnostic technique.
Prieto
M L
ML
Departamento de Pediatría, Hospital Central de Asturias, Universidad de Ovieda, España.
de Juan
J
J
Antón
M
M
Roiz
C
C
Crespo
M
M
D001927:Brain Diseases / Q000150:complications* / Q000175:diagnosis; D002114:Calcinosis / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D013341:Sturge-Weber Syndrome / Q000150:complications* / Q000175:diagnosis; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed