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Case No. 357
2014-12-01~2014-12-31
출제자 : 최진욱
Hit : 342
| Period | 2014-12-01~2014-12-31 |
|---|---|
| Diagnosis | Lipoid Proteinosis (Urbach-Wiethe Disease) |
| Clinical information | M/42 C.C : Seizure for past 2 years Multiple brownish/erythematous papules on neck and face |
| Discussion | Lipoid Proteinosis (Urbach-Wiethe Disease) Rare autosomal recessive inherited disease – Mutation of extracellular matrix protein1 (ECM1) – Intracellular accumulation of hyaline Skin abnormalities – First and most common manifestation – Thickening of skin and mucosa Multiple blisters and scars Hoarseness – Moniliform blepharosis Beaded papules around eyelid margin Pathognomic finding CNS involvement – Infrequent CNS involvement Seizure Schizophrenia Depression/anxiety – Infiltration around hippocampal capillaries Leading to vascular wall thickening Subsequent perivascular calcification – Calcification on imaging Medial temporal lobes Amygdala involvement – pathognomic Hippocampus Parahippocampal gyrus Striatum – Mortality due to ischemia Due to vascular calcium deposition Diagnosis – Pathognomic clinical findings – Biopsy of skin lesion Recognition of hylaine material Detection of EMC1 Reference, Amygdalae and Striatum Calcification in Lipoid Proteinosis, AJNR 2010;31:88-90 Lipoid proteinosis with bilateral amygdalae calcifications, headache, and cognitive impairments, Neurology 2013;81:303-304 |
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