Buoni S et al. (2006) Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia. Arch Neurol 63: 1479–1482

Severe neurodegeneration is one of several clinical features of ataxia-telangiectasia (AT), yet control of CNS symptoms in patients with AT has received little attention. Buoni et al. have presented a case report in which corticosteroid therapy markedly improved the neurological symptoms of a 3-year-old boy with classic symptoms and molecular evidence of AT.

The boy was given the corticosteroid betamethasone at 0.05 mg/kg body weight every 12 h. The child's parents had previously noted improvement in neurological symptoms on the occasions when the boy had been treated with betamethasone for asthmatic bronchitis attacks. Here, improvements in neurological symptoms were evident after 2–3 days; after 4 weeks of treatment they were dramatic. The most notable adverse effects were increased appetite and body weight, and moon face. Two videos (available to subscribers at http://www.archneurol.com) illustrate the improvement in symptoms and the adverse effects over the 4-week period. After this time, methylprednisolone (1 mg/kg/12 h) was substituted for betamethosone, with no observed beneficial effect. The change in therapeutic agent was an attempt to provide long-term therapy, as the relatively long half-life of betamethasone precluded its use for this purpose.

The authors suggest a range of mechanisms by which corticosteroids could affect neurological symptoms, including regulation of corticosteroid-responsive genes and suppression of inflammation. They note that the use of these drugs in patients with AT, who are already immunosuppressed, requires careful consideration, and call for further work to investigate the cellular pathways of corticosteroid action in the CNS and the most appropriate treatment regimens for AT.