Gaucher's disease type II

Gaucher's Disease Type II: A Rare and Severe Form

Gaucher's disease type II, also known as acute neuropathic Gaucher's disease, is a rare and severe form of Gaucher's disease. It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2 [3].

Key Features:

• Poor development: Infants with Gaucher's disease type II often experience poor development, including delayed motor skills and cognitive impairment [2].
• Seizures: Seizures are a common feature of this condition, indicating severe neurological involvement [1].
• Spasticity (jerking movements): Spasticity or jerking movements can also occur in individuals with Gaucher's disease type II [2].
• Poor ability to suck and swallow: Infants may experience difficulty sucking and swallowing due to the accumulation of glucocerebroside in the spleen and liver [1].
• Enlarged liver and spleen (hepatosplenomegaly): Enlargement of both the liver and spleen is a hallmark feature of Gaucher's disease type II, leading to organomegaly [4].

Causes and Genetics

Gaucher's disease type II is caused by mutations in the gene encoding acid β-glucosidase (GBA), which leads to a deficiency of this enzyme. This deficiency results in the accumulation of glucocerebroside in various organs, including the spleen, liver, and brain [5].

Prognosis

Unfortunately, Gaucher's disease type II is generally fatal before the age of 2 due to severe neurological involvement and organomegaly [3]. Early diagnosis and treatment are crucial for managing symptoms and improving quality of life.

References: [1] Context result 2 [2] Context result 2 [3] Context result 3 [4] Context result 6 [5] Context result 5

Gaucher's disease type II is a rare and severe form of the disorder that affects infants younger than 6 months old. The diagnostic tests for this condition are crucial in confirming the diagnosis and providing an early start to treatment.

Blood Test: Enzyme Activity Testing A blood test can detect Gaucher's disease by checking for enzyme levels, specifically β-glucosidase enzyme activity [8]. This test measures the amount of enzyme present in the blood, which is typically low or absent in individuals with Gaucher's disease.

DNA Test: Genotype Testing Genetic testing can also confirm a diagnosis of Gaucher's disease by identifying mutations in the GBA1 gene that cause the disease [5]. This test can determine if an individual has two copies of the affected Gaucher gene, indicating they have the disease, or one copy, which means they are a carrier.

Other Diagnostic Tests In addition to enzyme activity testing and genetic testing, other diagnostic tests may be performed to confirm a diagnosis of Gaucher's disease type II. These include:

• A bone marrow biopsy or smear can detect Gaucher cells, but it is not recommended as a diagnostic tool [6].
• Liver function enzyme testing and associated marker testing may also be conducted to rule out other conditions [9].

Early Detection through Newborn Screening Gaucher's disease type II may be detected through newborn screening tests performed soon after birth [13]. This early detection allows for prompt initiation of treatment, which can improve outcomes.

It is essential to consult with a healthcare professional or a specialist in Gaucher's disease to determine the best course of action and diagnostic testing for an individual suspected of having this condition.

Current Treatment Options for Gaucher Disease Type 2

Unfortunately, there is no effective treatment available for Gaucher disease type 2, which is the most severe and progressive form of the disease [7]. Babies with this condition usually pass away within two to three years [7].

However, it's essential to note that enzyme replacement therapy (ERT), which is used to treat patients with Type 1 and 3 Gaucher disease, is not effective in treating the severe brain involvement associated with Gaucher disease types 2 and 3 [5]. Currently, there are no specific treatments available for Gaucher disease type 2.

No Effective Treatment Options

• No specific treatment for Type 2 Gaucher disease is available [9].
• Enzyme replacement therapy, which is used to treat patients with Type 1 and 3 Gaucher disease, is not effective in treating the severe brain involvement associated with Gaucher disease types 2 and 3 [5].

Symptom Management

While there may be no cure for Gaucher disease type 2, treatment can help manage symptoms. Children who inherit the disease usually don’t live past age 2, but treatment can help manage symptoms [11].