Urbach Wieth Disease
From Anvita Health Wiki
Contents |
Etiology
- suggested to be a lysosomal storage disease
Epidemiology
- rare
- 25% of cases in South Africa
Pathology
- congenital bilateral calcification of the medial temporal lobe including the amygdala
- filamentous-like material in skin lesions
- cytoplasmic vacuolization of dermal fibroblasts
- generalized thickening of skin, mucosae & certain viscera
- widespread deposition of hyaline material
- disruption/reduplication of basement membrane
Genetics
- autosomal recessive
- associated with defects in ECM1 gene
Clinical-manifestations
- early hoarseness
- unusual skin eruptions
- moniliform blepharosis (upper & lower eyelids)
- impaired recall of emotionally-charged material
- seizures
- rage attacks
Radiology
- neuroimaging ( CT or MRI) to show bilateral calcification of the medial temporal lobes
Differential-diagnosis
More General Terms
Additional Terms
Internet Database
OMIM: 247100
References
OMIM [1]
