Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation

Article Abstract:

X-linked adrenoleukodystrophy is an inherited disorder, characterized by demyelination (loss of myelin, the fatty substance that covers nerve fibers and allows normal nerve conduction) and defective function of the adrenal glands, which produce several major hormones. The condition appears in childhood or adolescence and leads to neurological impairment and death within a few years. No treatment has been found. However, since the disease affects peroxisomes (small organelles located within cells, which contain a variety of enzymes), it is possible that transplantation of bone marrow could be effective. This approach has produced favorable results in other genetic disorders which involve intercellular organelles. The failure of bone marrow transplantation in other cases of X-linked adrenoleukodystrophy could have been related to the advanced stage of the disease. The case history of bone marrow transplantation in an eight-year-old boy with X-linked adrenoleukodystrophy is reported. The patient received bone marrow from his twin brother. Eighteen months later, the levels of very-long-chain fatty acids (one indication of this disorder) in the blood became lower. Results from magnetic resonance imaging (MRI, an imaging technique which reveals internal structures) indicated that signs of brain lesions had disappeared. The patient's neurological symptoms disappeared completely 18 months after bone marrow transplantation and he performed better in school than his twin. The earliest symptoms of X-linked adrenoleukodystrophy are of a general nature, and neurological signs usually appear when the condition is advanced. These findings indicate that bone marrow cells, transplanted early enough, can reverse the effects of demyelination in adrenoleukodystrophy. This approach only holds promise for children whose neurological damage is not extensive. (Consumer Summary produced by Reliance Medical Information, Inc.)

Evaluation, Transplantation of organs, tissues, etc., Organ transplantation, Tissue transplantation, Transplantation, Adrenoleukodystrophy

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Thirty years of bone marrow transplantation for severe combined immunodeficiency

Article Abstract:

Bone marrow transplantation is an excellent treatment for children with severe combined immunodeficiency. This disease is caused by extremely low levels of white blood cells. A 1999 report on the status of 89 such children showed that all of those who received a transplant from an identical donor were still alive and 78% of those who received it from a parent were still alive. None developed severe graft-versus-host disease, a common complication of bone marrow transplant, because all T cells were removed from the donor's bone marrow. Children who were treated before the age of 3.5 months were most likely to survive.

Editorial, Immunological deficiency syndromes, Immunologic deficiency syndromes

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Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection

Article Abstract:

Children with a mutation in the gene for the interferon-gammma receptor should not be vaccinated with a strain of Mycobacterium bovis called bacille Calmette-Guerin (BCG). BCG is a vaccine against tuberculosis. A girl who was vaccinated with BCG at the age of one month developed a severe illness at the age of 2 months. Tissue samples from her lung and bone marrow were cultured and the results indicated that she was infected with Mycobacterium bovis. Genetic analysis revealed that she had a gene mutation in the receptor for interferon-gamma. She died at the age of 10 months despite antibiotic therapy.

Health aspects, Complications and side effects, Gene mutations, Gene mutation, Genetic aspects, Interferon gamma, Cell receptors, Mycobacterial infections, Mycobacterium infections, BCG vaccines, BCG

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