Rare Cases
Dravet Syndrome
● Background:
• A rare and severe epileptic encephalopathy that first manifests in infancy is called Dravet Syndrome (DS).
• Genetics: SCN1A gene mutations affect about 80% of people.
• Features include neurologic impairment, developmental retardat
Hashimoto’s Encephalopathy
● Overview:
• Hashimoto thyroiditis is linked to this uncommon autoimmune disease, which primarily affects women (female:male ratio ~4:1).
• Although less often than in adults, it can happen to children and adolescents.
● Clinical manifestations can vary:
• Cogni
Marchiafava-Bignami Disease
● Definition / Overview:
• MBD is a rare neurological disorder associated with chronic alcoholism.
• Characterized by demyelination and necrosis of the corpus callosum.
• Pathognomonic imaging sign: “Sandwich sign” – central necrosis with peripheral gliosis.
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Opsoclonus-Myoclonus-Ataxia Syndrome (Dancing Eyes–Dancing Feet)
● Introduction:
• An uncommon neurological condition brought on by autoimmune dysfunction.
• About 1 in 10,000,000 people are affected annually; 2–3% of youngsters are affected.
➣ Causes/Associations:
• Streptococcal, West Nile virus, HIV, post-viral, and rick
Moyamoya Disease
● General Background
•A rare, progressive steno-occlusive cerebral vascular disease with an unclear aetiology is called Moyamoya disease.
•Most common: Asians, particularly those from Japan.•Male-to-female ratio: 1:1.8.
•First ten years of life is the most common dia