Gaucher's Disease Type II. Infantile cerebral type. Acute neuronopathic type. Glucocerebrosidase (acid betaglucosidase) deficiency.
Incidence
It is inherited as autosomal recessive. It is a rare disorder with incidence of 1/50,000. No ethnic prevalence is noted.
Clinical Characteristics
This condition is a rapidly progressive disease generally ending in death before age two years. It may present as a hydrops fetalis with Coombs negative. It presents in the first few months of life with developmental delay, visual impairment and major feeding difficulties as a result of inability to swallow. Evidence of neurological deterioration usually appears before six months and frequently before three months of age and 10% of patients are abnormal in the first weeks of life. This condition is characterized by enlargement of the abdomen from hepatosplenomegaly and neurologic signs such as retroflexion of the head, strabismus, dysfagia, choking spells and hypertonicity of the muscles. Liver and especially spleen are typically huge but there are no bone changes. The skin shows a colodion skin type. Hypotonia invariably gives way to spasticity with bilateral pyramidal signs and persistent and characteristic retroflexion of the neck. Paralytic strabismus with a variety of ocular motor palsy is characteristic. Mouth dysfagia is a striking feature which leads to feeding problems and aspiration pneumonia. At times, there are laryngeal stridor and trismus. Seizures are rare. Head circumference is normal at birth but head growth rapidly diminish. Peripheral nerves are normal. There are no abnormalities in the fundi. No dysmorphisms and no skeletal abnormalities. Storage cells are absent in peripheral circulation but bone marrow aspiration contain typical Gaucher's cells similar to those seen in type I Gaucher. Diagnosis is confirmed by demonstrating deficiency of lysosomal betaglucosidase or glucocerebrosidase in leukocytes or fibroblasts. Liver and spleen are constantly enlarged late in the condition. Anemia, thrombocytopenia and leukopenia regularly appear. Diagnosis is made by the characteristic Gaucher histiocytes in bone marrow smears and elevation of serum acid phosphatase and measurement of glucocerebrosidase in leukocytes or fibroblasts. There is no specific treatment for type II Gaucher disease. Enzyme replacement and organ transplantation are of no help.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Bone marrow aspiration contain typical Gaucher's cells similar to those seen in type I Gaucher. Diagnosis is confirmed by demonstrating deficiency of lysosomal betaglucosidase or glucocerebrosidase in leukocytes or fibroblasts.