[Sturge-Weber-Krabbe syndrome with unusual symptomatology (author's transl)].
Two cases of Sturge-Weber-Krabbe's syndrome with unusual symptomatology are described. In the first case 13 years old boy the naevus flammeus was missing. A convulsive fit at the age of 2 1/2 years led to the correct diagnosis from the very characteristic radiological findings. At 13 years, intracortical calcifications were bulky and diffuse, and associated with optic nerve hypoplasia and anomalies of ocular motricity, their relation with the syndrome being difficult to establish. In the second patient (aged 17) the naevus flammeus was extensive, with numerous naevi on the whole body, and was associated with a retinal vascular malformation and glaucoma. A choroidal angioma was not observed. In these two patients the disease was isolated, without familial character, and there were no other neurological symptoms such as a pathological EEG. No evidence of mental retardation was noted.
D000293:Adolescent; D000798:Angiomatosis / Q000175:diagnosis*; D001927:Brain Diseases / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005134:Eye Neoplasms / Q000175:diagnosis*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D009886:Ophthalmoplegia / Q000175:diagnosis; D011859:Radiography; D012164:Retinal Diseases / Q000175:diagnosis*; D012640:Seizures / Q000175:diagnosis; D013341:Sturge-Weber Syndrome / Q000175:diagnosis*; D014786:Vision Disorders / Q000175:diagnosis
Maladie de Sturge-Weber à symptomatologie inhabituelle a propos de 2 cas.