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2.
Arch Pediatr ; 15(1): 45-9, 2008 Jan.
Artigo em Francês | MEDLINE | ID: mdl-18162380

RESUMO

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to alpha-L-iduronidase deficiency. Its severe prognosis has been significantly improved by enzyme replacement therapy using recombinant human alpha-L-iduronidase (laronidase). We report the case of a boy who was diagnosed at 19 months of age with Hurler's disease, the most severe form of MPS I, and received thereafter a treatment by laronidase, resulting in clinical and biological improvement. The aim of this case report is to draw physicians' attention on the presenting signs of Hurler's disease, in order to enable an earlier diagnosis, increasing the treatment's benefits.


Assuntos
Iduronidase/uso terapêutico , Mucopolissacaridose I/tratamento farmacológico , Criança , Diagnóstico Diferencial , Seguimentos , Humanos , Lactente , Mucopolissacaridose I/diagnóstico , Resultado do Tratamento
3.
Arch Pediatr ; 13 Suppl 1: S48-50, 2006 Oct.
Artigo em Francês | MEDLINE | ID: mdl-17370396

RESUMO

Long-term low dose azithromycin treatment in cystic fibrosis patients with chronic Pseudomonas aeruginosa infection is safe and reduces the decline in lung function, the number of acute exacerbations and improves nutritional status; underlying efficacy mechanisms are multiple and synergistic.


Assuntos
Antibacterianos/uso terapêutico , Azitromicina/uso terapêutico , Fibrose Cística/complicações , Infecções por Pseudomonas/tratamento farmacológico , Criança , Humanos , Infecções por Pseudomonas/etiologia
4.
Arch Pediatr ; 12 Suppl 1: S58-60, 2005 Apr.
Artigo em Francês | MEDLINE | ID: mdl-15893241

RESUMO

Acute arteriopathies are the etiological factor of 25% of all the cerebral arterial thrombosis cases in childhood; they give way to ischemic strokes which have specific clinical and radiological features; varicella is the etiologic factor in 60% of the cases; favorable outcome is the rule; physiopathology and treatment remain under discussion.


Assuntos
Doenças Arteriais Cerebrais/patologia , Doenças Arteriais Cerebrais/virologia , Varicela/complicações , Trombose Intracraniana/etiologia , Doença Aguda , Isquemia Encefálica/etiologia , Doenças Arteriais Cerebrais/complicações , História Medieval , Humanos , Masculino , Acidente Vascular Cerebral/etiologia
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