Movement and mood disorder in two brothers with Gaucher disease
โ Scribed by M Raja; A Azzoni; F Giona; S Regis; S Grossi; M Filocamo; E Sidransky
- Book ID
- 110888458
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 85 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0009-9163
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Massive splenomegaly is a frequent finding in patients with Gaucher disease, the most common of the sphingolipidoses. Even so, the risk for splenic rupture and intracapsular hemorrhage has not been emphasized due to the rarity of this occurrence and the fibrotic, rubbery consistency of splenic tissu
W e describe 2 sibs who presented with ichthyotic skin at birth and subsequently developed neurologic manifestations of type 2 Gaucher disease. Type 2 Gaucher patients with and without ichthyosis manifest ultrastructural and biochemical abnormalities in the epidermis. The 2 patients described here c