[Asymptomatic bilateral occipital calcifications. A possible atypical form of Sturge-Weber-Krabbe syndrome?].
Sturge-Weber-Krabbe syndrome is a rare congenital neuro-cutaneous disease which is characterized, in its full clinical expression, by facial naevus flammeus and epilepsy with mental retardation. Different atypical cases in which one or more symptoms are missing and clinical course is benign, have been reported in the literature in recent years. In the present paper a possible case of this syndrome radiologically diagnosed, without neurological and cutaneous symptoms, is reported; the importance of a more comprehensive study of this complex disorder, with particular attention to the incomplete forms, is stressed.
Pandolfi
C
C
I Divisione Medica, Ospedale Maggiore di Lodi, Milano.
Pellegrini
L
L
Vitelli
E
E
Sbalzarini
G
G
Acqualagna
R
R
Sabbia
C
C
D000328:Adult; D001927:Brain Diseases / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009778:Occipital Lobe; D013341:Sturge-Weber Syndrome / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed
Calcificazioni occipitali bilaterali asintomatiche. Una possibile forma atipica di sindrome di Sturge-Weber-Krabbe?