Syndromes Flashcards
Ramsay Hunt syndrome
Herpes zoster that involves CN VII
PHACES syndrome
Posterior fossa anomalies, Hemangiomas, Arterial cerebrovascular anomalies, Cardiac abnormalities and Coarctation, Eye (PFV. morning glory, optic n. hypoplasia)
NF1
AD, no sex predisponence, Lisch nodules, optic nerve glioma, facial neurofibroma, cafe au lait, freckling, plexiform neurofibroma, juvenile xanthogranuloma, retinal astrocytoma, glaucoma
Melkersson-Rosenthal syndrome
recurrent unilateral or bilateral facial paralysis is accompanied by chronic facial swelling and lingua plicata
Hoyt-Spencer triad
optic nerve sheath meningioma (progressive visual loss, optic atrophy, optociliary shount vessels)
NF2
AD but 50% sporadic, 90% acoustic neuroma (meningioma, glioma, neurofibroma, schwannoma), optic nerve sheath meningioma, combined hamartoma of the retina and RPE, PSC
Wolfram syndrome
DIDMOAD - diabetes insipidus, DM, optic atrophy, deafness (DM first)
Behr syndrome - genetics, features
AR, optic atrophy, mr, spastic gait, ataxia
Kjer type optic atrophy - genetics, features
dominant optic atrophy/optic atrophy type 1, gene OPA1
de Morsier syndrome - other name, features
septo-optic dysplasia. bilateral hypoplasia, absent septum pellucidum, corpus callosum dysgenesis, hypopituitarism
Aicardi syndrome - genetics, features
XD. CNS malformations, multiple bi depigmented chorioretinal lacunae around hypoplastic/colobomatous disc
Sturge-Weber syndrome
congenital, non-hereditary, intracranial leptomeningiomatosis, cutaneous angiomas (Port Wine), glaucoma
Miller Fisher syndrome
rare form of acute polyneuropathy Guillain-Barre syndrome. Anti GQ1. Triad: ophthalmoplegia, gait and trunk ataxia, areflexia
Foster-Kennedy Syndrome
Optic disc edema + optic atrophy. Tumor pressing on n.II. ICP –> uni papilledema in fellow eye. Frontal Olfactory and Sphenoid Wing Meningioma
Pseudo Foster-Kennedy Syndrome
Optic disc edema + optic atrophy. Loss of vision before. Recurrent (sequential) NAION.
