Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia.
BACKGROUND
To our knowledge, there have been no reports on the control of central nervous system symptoms in patients with ataxia-telangiectasia.


OBJECTIVE
To preliminarily determine the effectiveness of corticosteroid therapy on the central nervous system symptoms of a child with ataxia-telangiectasia in whom neurological signs improved when, occasionally, he was given betamethasone to treat asthmatic bronchitis attacks.


METHODS
Case report.


METHODS
Tertiary care hospital. Patient A 3-year-old boy with the classic hallmarks and a proved molecular diagnosis of ataxia-telangiectasia.


METHODS
We used betamethasone, 0.1 mg/kg per 24 hours, divided every 12 hours, for 4 weeks to preliminarily determine its effectiveness on the child's central nervous system symptoms and its safety. Methylprednisolone, 2 mg/kg per 24 hours, divided every 12 hours, was then given in an attempt to perform a long-term treatment.


RESULTS
There were improvements in the child's neurological symptoms 2 or 3 days after the beginning of the drug treatment. After 2 weeks of treatment, the improvement was dramatic: the disturbance of stance and gait was clearly reduced, and the control of the head and neck had increased, as had control of skilled movements. At 4 weeks of treatment, adverse effects mainly included increased appetite and body weight and moon face. No beneficial effect was obtained when, after 4 weeks, betamethasone was replaced with methylprednisolone. Six months later, without therapy, the child continued to experience severe signs of central nervous system impairment.


CONCLUSIONS
Controlled studies to better understand the most appropriate drug and therapeutic schedule are required.
Buoni
Sabrina
S
Department of Pediatrics, University of Siena, Siena, Italy.
Zannolli
Raffaella
R
Sorrentino
Livio
L
Fois
Alberto
A
D001259:Ataxia / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000188:drug therapy* / Q000503:physiopathology; D064007:Ataxia Telangiectasia Mutated Proteins; D001623:Betamethasone / Q000008:administration & dosage*; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism; D002531:Cerebellum / Q000187:drug effects / Q000503:physiopathology; D002675:Child, Preschool; D003228:Conjunctiva / Q000187:drug effects / Q000473:pathology / Q000503:physiopathology; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D004334:Drug Administration Schedule; D004359:Drug Therapy, Combination; D020233:Gait Disorders, Neurologic / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D005938:Glucocorticoids / Q000008:administration & dosage*; D006801:Humans; D008297:Male; D008775:Methylprednisolone / Q000008:administration & dosage; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism; D020127:Recovery of Function / Q000187:drug effects / Q000502:physiology; D016896:Treatment Outcome; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D005938:Glucocorticoids; D025521:Tumor Suppressor Proteins; D001623:Betamethasone; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases; D008775:Methylprednisolone