Gaucher's disease, also known as cerebroside lipidosis, is the most common type of cerebral lipid storage disease. It is an autosomal recessive genetic disorder caused by a deficiency of glucocerebrosidase. The disease primarily affects the mononuclear phagocyte system, including the liver, spleen, lymph nodes, lungs, and bone marrow, where Gaucher cells can be identified within the affected cells.

bubble_chart Clinical Manifestations

The course of the disease and the progression of symptoms are related to the activity of the enzyme. It can be divided into the following three types.

1. Acute infantile type: The earliest onset occurs in the neonatal period, generally within the first year of life. The earlier the onset, the faster the progression. In addition to hepatosplenomegaly and anemia, the main symptoms include developmental delay and neurological symptoms such as impaired consciousness, neck stiffness, opisthotonos, limb rigidity, convergent strabismus, dysphagia, and possible convulsions. Further progression may lead to respiratory distress, central respiratory irregularity, and death due to brainstem dysfunction.
2. Chronic juvenile type: Onset can occur at any age before 10 years. Progressive hepatosplenomegaly, anemia, bleeding, and thrombocytopenia are observed. Lymph nodes may also show grade I enlargement. Yellow wedge-shaped patches appear on the bulbar conjunctiva. Bone and joint pain, joint swelling, limited mobility, and occasional pathological fractures may occur. If neurological symptoms are present, they manifest as behavioral abnormalities, mild to grade II intellectual disability, convulsions, and extrapyramidal symptoms (such as athetosis, tremor, generalized hypertonia, etc.). The skin may exhibit yellowish-brown pigmentation.
3. Adult type: Onset occurs between 20 and 40 years of age, without neurological symptoms. The main manifestations are hepatosplenomegaly, anemia, pancytopenia, and pathological fractures.

bubble_chart Auxiliary Examination

1. Gaucher cells are found in the bone marrow, liver, spleen, or lymph nodes.
2. Increased acid phosphatase in the blood.
3. Reduced or deficient β-glucosidase activity in white blood cells.
4. Liver function may be abnormal.
5. X-ray examination may reveal widened medullary cavities in long bones, thinning of the cortical bone, and osteoporosis.
6. In patients with neurological symptoms, EEG may show slowed background waves and scattered multiple spike-slow waves. Abnormalities are more likely to appear with photic stimulation.

bubble_chart Treatment Measures

1. Supportive therapy: Blood transfusion may be considered for severe anemia. Fracture prevention is recommended for chronic adult cases.
2. Splenectomy may be considered for patients with hypersplenism.

bubble_chart Differentiation

Infantile type should be differentiated from other congenital metabolic diseases, and also distinguished from hepatosplenomegaly caused by other reasons.