A family with XXXX associated with variant lysozyme.

@entity1 @entity8 @entity548 @entity2783 @entity535 @entity254 @entity344 @entity2340 @entity14756 @entity694 @entity369 @entity2275
Hereditary nonneuropathic systemic lysozyme @entity2783 is a very rare form of @entity2783 , and only 4 families with this condition have been detailed until now in the literature. Clinical manifestations of lysozyme @entity2783 observed until now mainly concerned the kidneys, liver, and digestive tract. We report here a new family with @entity14756 who presented predominantly with @entity344 . The proband, a middle-aged @entity1 , underwent partial gastrectomy for a hemorrhagic " @entity2275 " in 1984. @entity344 was diagnosed in 1998 on biopsies performed on the gastroduodenal @entity254 , which appeared to be very congestive at presentation. Immunohistochemical stainings in tissue sections were positive for lysozyme. Amyloid was also observed in the @entity694 . The @entity1 had a mutation in the lysozyme gene characterized by substitution of the @entity535 at position 64 in the mature protein from @entity2340 to @entity369 , previously described in only 1 French family with prominent @entity8 . It is interesting to note that her father had died many years before with an uncharacterized digestive @entity2783 . Our observation shows that a search for @entity344 is important, particularly when physicians are faced with @entity548 , or abdominal symptoms. When @entity344 is diagnosed, it is important to determine with precision the nature of the amyloid fibril proteins, because various types of @entity2783 can involve the gastrointestinal tract.
