Gaucher's Disease Type III . Chronic neuronopathic type. Juvenile and adult cerebral type. Acid betaglucosidase deficiency
Incidence
It is an autosomal recessive condition of variable age of onset. There is no ethnic predisposition.
Clinical Characteristics
In this condition, the clinical features are common to the other 2 types of Gaucher's disease. The age of onset is variable. Hepatosplenomegaly usually precedes neurological abnormality and may be present since birth. Neurological signs develop between six and fifteen years of age and sometimes as late as early adulthood. Neurological abnormalities include ataxia, spastic paraplegia, grand mal and/or complex partial seizures, supranuclear ophthalmoplegia and dementia. Supranuclear gaze palsy and ocular motor apraxia are characteristics of type III Gaucher's disease. This condition has bone lesions similar to type I. Also occur hypersplenism and seizures. The clinical symptoms are complex but some symptoms and signs are very outstanding such as frequent action myoclonus (polimyoclonus) or tonic clonic seizures and gait abnormalities. The supranuclear palsy of horizontal gaze is present in most cases and is of great diagnostic importance. Generalized extrapyramidal rigidity, trismus and facial grimacing may be observed. Progressive mental deterioration is almost invariable. Gaucher's cells in bone marrow, splenomegaly and increased serum acid phosphatase activity are always present. Typical bone lesions as in Type I Gaucher appear after several years. The progression and severity of the disease is variable. Treatment has been tried with enzyme replacement, organ transplantation and bone marrow transplant (the last one with apparent good result).
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F. Gaucher's cells in bone marrow, splenomegaly and increased serum acid phosphatase activity are always present.