Definition:
Louis-Bar syndrome, also referred to as Ataxia-telangiectasia (AT) or Boder-Sedgwick syndrome, is an immunodeficiency disorder associated with a defect in T-cells. It occurs in approximately 1 in 40,000 to 1 in 300,000 births.
Diagnosis:
Diagnosis of Louis Bar syndrome is done after testing for both ataxia and oculocutaneous telangiectasia, followed by screening for low levels of IgA, IgG2, IgG4, and IgE. Afflicted patients may also show a decreased lymphocyte count plus other immunological defects.
Cytogenetic and molecular testing is recommended to confirm the initial diagnosis. To assess for cerebellar atrophy, MRI and CT scans may be needed.
Treatment:
Treatment for Louis Bar syndrome focuses on managing symptoms and providing supportive care to patients. To maintain flexibility, physical and occupational therapies may be involved. In some cases, a speech therapist is also recommended.
To supplement the compromised immune system, gamma-globulin is injected, along with high doses of vitamins. To manage infections, antibiotics are prescribed.
Symptoms and Signs:
Louis Bar syndrome presents with early onset progressive cerebellar ataxia. Dilated blood vessels in the eyes and skin, a condition known as oculo-cutaneous telangiectasia, is another common symptom. Immunodeficiency occurs, often through a decrease in IgA, IgG and IgE levels. Chromosomal instability, hyper sensitivity to ionizing radiation, increased malignancy in the lymphoid, and elevated alpha-fetoprotein levels are also typical symptoms.
Additionally, tiny reddish spider veins called telangiectasias usually appear on the surface of cheeks and ears, or in the corners of the eyes. Patients may also experience difficulty in walking. Sometimes, patients develop enlarged bowels or experience appetite loss.
Causes:
Louis-Bar syndrome is a genetic condition commonly associated with an abnormality in T-cells.
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