Gaucher-like disease. Pseudo Gaucher's Disease. Glucosylceramide betaglucosidase deficiency.
Incidence
It is an autosomal recessive condition. Only five to six patients have been reported with this condition.
Clinical Characteristics
It is characterized by communicating hydrocephalus, corneal opacities, deafness, valvular heart disease and deformed toes associated with deficiency of the enzyme involving Gaucher's disease glucosylceramide betaglucosidase. The usual manifestation of Gaucher's disease are not evident however. Supranuclear gaze palsies are present since childhood. There may be thickened leptomeninges with perivascular fibrosis and aortic and mitral stenosis. Corneal opacities and cardiac valve abnormalities are practically never seen in real Gaucher's disease. There is mild infiltration of Gaucher's cells in the reticular organs.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F. There is mild infiltration of Gaucher's cells in the reticular organs.