Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases.
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral scalp, facial, and ocular lesions and ipsilateral cerebral malformations. To define the neuroimaging features of this disorder we studied two patients affected by ECCL and compared our data with those reported in the literature. Sonographic, CT, and MR imaging examinations showed quite specific CNS findings that are highly suggestive of the diagnosis of ECCL. To our knowledge this is the first report of a complete neuroradiologic evaluation and follow-up of this disorder.
Parazzini
C
C
Department of Neuroradiology, Scientific Institute H. S. Raffaele, University of Milan, Italy.
Triulzi
F
F
Russo
G
G
Mastrangelo
M
M
Scotti
G
G
D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000151:congenital* / Q000175:diagnosis / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008068:Lipomatosis / Q000151:congenital* / Q000175:diagnosis / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D012871:Skin Diseases / Q000151:congenital* / Q000175:diagnosis / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed