Louis-Bar syndrome

• Decreased coordination of movements (ataxia) in late childhood
  • Ataxic gait (cerebellar ataxia)
  • Jerky gait
  • Unsteady
• Decreasing mental development, slows or stops after age 10-12
• Delayed walking
• Discoloration of skin areas exposed to sunlight
• Discoloration of skin (coffee-with-milk colored spots)
• Enlarged blood vessels in skin of nose, ears, and inside of the elbow and knee
• Enlarged blood vessels in the whites of the eyes
• Jerky or abnormal eye movements (nystagmus) late in the disease
• Premature graying of the hair
• Seizures
• Sensitivity to radiation, including medical x-rays
• Severe respiratory infections that keep coming back (recurring)

The doctor will perform a physical exam. Examination may show signs of the following:

• Below normal sized tonsils, lymph nodes, and spleen
• Decreased-to-absent deep tendon reflexes
• Delayed or absent physical and sexual development
• Growth failure
• Mask-like face
• Multiple skin coloring and texture changes

Possible tests include:

• Alpha fetoprotein
• B and T cell screen
• Carcinoembryonic antigen
• Genetic testing to look for mutations in the ATM gene
• Glucose tolerance test
• Serum immunoglobulin levels (IgE, IgA)
• X-rays to look at the size of the thymus gland

Images

Antibodies

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Ataxia Overview

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Ataxia Treatment

Review Date: 08/26/2009
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)