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Leukodystrophy

The leukodystrophies are a group of genetic disorders affecting the growth and development of the myelin sheath, or white matter, of the brain. A complex chemical substance made up of numerous lipids, the myelin sheath serves as insulation for nerve axons. Dysfunction in any of these lipid compounds can compromise the function of the brain, spinal cord, and peripheral nerves. The United Leukodystrophy Foundation currently recognizes 15 distinct leukodystrophies including Krabbe’s disease, or globoid cell leukodystrophy.

As a group, the leukodystrophies are highly variable in their course and prognosis. However, all are progressive and manifest neurological symptoms. Hypotonia, gait problems, bulbar dysfunction, seizures, eating difficulties, and disturbances in thought process are very common. Impaired neurological function can contribute to pulmonary complications in several ways:

• Abnormalities in oral-motor function and coordination result in swallowing difficulties, resulting in choking and aspiration, frequently exacerbated as a result of poor cognitive function.
• Inadequate control of respiratory muscles due to enervation or hypotonia can impair the normal cough reflex and, as a result, interfere with the ability to clear aspirated material and pulmonary secretions from the airways.
• Seizures carry a high risk for aspiration of saliva and gastric contents. Because saliva and gastric contents contain bacteria, aspiration introduces microorganisms into normally sterile airways. Ineffective secretion clearance associated with recurrent aspiration, places patients with pulmonary complications of leukodystrophy at high risk for hosting a vicious cycle of mucus obstruction, infection, and progressive, irreversible lung damage.
• Retained secretions provide a cultural medium for bacterial pathogens. Consequent infections produce still more mucus, initiating a vicious cycle of mucus obstruction, recurrent bouts with pneumonia, bacterial colonization, progressive pulmonary compromise and, finally, respiratory failure.

Aggressive bronchial hygiene, including daily Airway Clearance Therapy, is an essential component in the management of patients with pulmonary complications from leukodystrophy. Conscientious attention to daily secretion clearance may prevent or minimize the pulmonary complications associated with this disorder.

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Sources

United Leukodystrophy Foundation: Introduction to leukodystrophy. Available at: http://www.ulf.org/ ulf/ intro/index.html. Accessed March 6, 2000. McGovern M. Lysomal storage diseases. In: Fauci AS, Braunwald E, Isselbacher KJ, et al. Harrison's Principles of Internal Medicine. 14^th edition. New York, NY: McGraw-Hill Book Co; 1998:2176.

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