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2.
Arch Pediatr ; 15(1): 45-9, 2008 Jan.
Article in French | MEDLINE | ID: mdl-18162380

ABSTRACT

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.


Subject(s)
Iduronidase/therapeutic use , Mucopolysaccharidosis I/drug therapy , Child , Diagnosis, Differential , Follow-Up Studies , Humans , Infant , Mucopolysaccharidosis I/diagnosis , Treatment Outcome
3.
Arch Pediatr ; 13 Suppl 1: S48-50, 2006 Oct.
Article in French | MEDLINE | ID: mdl-17370396

ABSTRACT

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.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Azithromycin/therapeutic use , Cystic Fibrosis/complications , Pseudomonas Infections/drug therapy , Child , Humans , Pseudomonas Infections/etiology
4.
Arch Pediatr ; 12 Suppl 1: S58-60, 2005 Apr.
Article in French | MEDLINE | ID: mdl-15893241

ABSTRACT

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.


Subject(s)
Cerebral Arterial Diseases/pathology , Cerebral Arterial Diseases/virology , Chickenpox/complications , Intracranial Thrombosis/etiology , Acute Disease , Brain Ischemia/etiology , Cerebral Arterial Diseases/complications , History, Medieval , Humans , Male , Stroke/etiology
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