Louis-Bar syndrome

Louis-Bar syndrome
Synonyms	Ataxia-telangiectasia
Pronounce	N/A
Specialty	N/A
Symptoms	Ataxia, telangiectasia, immunodeficiency, increased cancer risk
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the ATM gene
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, physical therapy, immunoglobulin therapy
Medication	N/A
Prognosis	Variable, often reduced life expectancy
Frequency	N/A
Deaths	N/A

Louis-Bar syndrome, also known as ataxia-telangiectasia, is a rare, neurodegenerative, autosomal recessive disorder that affects various systems of the body. It is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, and a predisposition to malignancies.

Etiology

Louis-Bar syndrome is caused by mutations in the ATM gene (Ataxia Telangiectasia Mutated), which is located on chromosome 11q22.3. The ATM gene encodes a protein that is crucial for the repair of double-strand breaks in DNA, and its dysfunction leads to genomic instability.

Clinical Features

The hallmark features of Louis-Bar syndrome include:

• Ataxia: This is often the first symptom, appearing in early childhood. It is due to the degeneration of the cerebellum, leading to difficulties with balance and coordination.
• Telangiectasia: These are small, dilated blood vessels that appear on the skin and eyes, typically developing a few years after the onset of ataxia.
• Immunodeficiency: Patients have a higher susceptibility to infections due to defects in both humoral and cellular immunity.
• Increased Cancer Risk: There is a significantly increased risk of developing cancers, particularly lymphomas and leukemias.

Diagnosis

Diagnosis of Louis-Bar syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the ATM gene. Laboratory tests may show elevated levels of alpha-fetoprotein (AFP) and reduced levels of immunoglobulins.

Management

There is no cure for Louis-Bar syndrome, and treatment is primarily supportive. Management strategies include:

• Physical Therapy: To help maintain mobility and manage ataxia.
• Immunoglobulin Therapy: To reduce the frequency and severity of infections.
• Surveillance for Malignancies: Regular monitoring for early detection of cancers.

Prognosis

The prognosis for individuals with Louis-Bar syndrome is variable. Many patients experience a progressive decline in neurological function and have a reduced life expectancy, often due to infections or cancer.

Also see

• Cerebellar ataxia
• Telangiectasia
• Immunodeficiency
• Genetic disorders

edit 

WikiMD neurology

External links

• Comprehensive information from the National Institute of health.
  

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z