INFANTILE GAUCHER DISEASE

TYPES

Gaucher disease is categorized into three types:

Non-Neuropathic. It is a type 1 Gaucher disease in which people will often feel pain and suffer from tiredness that results in lower blood platelets and anemia. Symptoms may develop at any age.

Acute Infantile Neuropathic. It is a type 2 Gaucher disease. It develops because of the absence of glucosylceramide beta-glucosidase in the body. Children who have this type of disease usually die when they reach the age of two.

Chronic Neuropathic. This is a type 3 Gaucher disease, a severe pain condition caused by chronic nerve illness. 

SYMPTOMS

Signs and symptoms of Infantile Gaucher disease include the following:

• Bone deformities
• Respiratory disease
• Expansion of liver and spleen
• Lack of coordination
• Cognitive impairment
• Discoloration
• Convulsion
• Anemia
• Yellowish eyes

DIAGNOSIS

A range of diagnostic procedures and extensive clinical examinations are being done to confirm if a person has Gaucher disease. These include the following:

Enzyme Assay. It is also known as beta-glucosidase leukocyte used for blood testing. It is a common technique used mostly by doctors to identify individuals who have insufficient glucocerebrosidase enzymes.

X-ray absorptiometry. Low-level x-rays are used in this procedure to determine bone density.

Magnetic resonance imaging. It uses radiofrequency and powerful magnetic fields to determine if the spleen or liver is swollen and if the bone marrow is already damaged.

TREATMENT

Some treatment procedures may help to avoid or alleviate several of the symptoms of Gaucher disease. These includes:

• Enzyme Replacement Therapy or replacing artificial enzymes for the defective ones.

• Oral medications, such as Miglustat and Eliglustat are needed to avoid fatty compounds that develop in Gaucher disease patients.
• Osteoporosis medications may aid in the rebuilding of bones that have been damaged by Gaucher disease.