McLeod Syndrome

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McLeod Syndrome
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Overview

McLeod syndrome is an X-linked recessive genetic disorder that may affect multiple organs and tissues of the body such as the blood, brain, peripheral nerves, muscle, and heart. This syndrome is caused by a variety of mutations in the XK gene on the X chromosome, which is responsible for producing the Kx protein, a secondary supportive protein for the Kell antigen on the surface of RBC. McLeod syndrome is present in 0.5-1 per 100,000 of the population. Male patients of McLeod syndrome have variable level of acanthocytosis due to a defect in the inner leaflet bilayer of the RBC, as well as mild hemolysis. McLeod females present with mild acanthocytes, that too occasionally, and have very mild hemolytic features. Some patients develop myopathy, neuropathy, or psychiatric symptoms.

Causes:

The McLeod phenotype is caused due to recessive mutation McLeod gene which encodes for the Kell blood group system. The McLeod gene encodes the XK protein, which is located on the X chromosome, and structurally resembles a membrane transport protein but an unknown function. Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis. The gene of McLeod syndrome is physically located in close proximity to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may suffer with both the diseases.

Signs and symptoms:

Symptoms and signs start appearing when the patients are in their 50s and the course of disease is usually slowly progressive. Common features include peripheral neuropathy, cardiomyopathy (diseases of the heart muscle, where the walls of the heart have become stretched, thickened or stiff), chorea (abnormal involuntary movement disorder), and hemolytic anemia. Other features include facial tics, other oral movements (lip and tongue biting), late-onset dementia, seizures, and behavioral changes.

Diagnosis:

Diagnosis of McLeod syndrome is made by performing clinical examination, medical history, blood tests, radiological imaging and genetic analysis. Peripheral blood smear may reveal disorders acanthocytes. Signs of hemolytic anemia are seen in McLeod Syndrome. Elevated level of creatine kinase can be seen with myopathy in McLeod syndrome. Brain MRI yields diagnostic findings, which may include increased T2 signal in the lateral putamen with secondary lateral ventricular dilation and caudate atrophy. Necropsy shows loss of neurons and gliosis in the caudate and globus pallidus. Thalamus, substantia nigra, and putamen also show similar changes. The cerebellum and cerebral cortex are generally spared from any similar pathological changes.

Management:

There is no known cure for McLeod syndrome. The treatment is completely supportive in nature, depending on types of symptoms. Medication may be used for the management of epilepsy, cardiac problems and psychiatric features, although pharmacological response to chorea is mostly inadequate. A typical patient with severe McLeod syndrome lives for an additional 5-10 years from the time the disease is diagnosed, which is during the patient’s adulthood. Patients who have cardiomyopathy bear substantial risk for development of congestive heart failure and sudden cardiac death. The prognosis is often good in some patients with mild neurological or cardiac problems with a normal life span.