Isabelle Forest

Publications (2)9.84 Total impact

• Article: Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years.

  Nathalie Guffon, Yves Bertrand, Isabelle Forest, Alain Fouilhoux, Roseline Froissart
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  ABSTRACT: To evaluate the effect of bone marrow transplantation in children with Hunter syndrome. Eight boys received a bone marrow graft between the ages of 3 and 16 years from 1990 to 2000. In 6 cases, the donor was a sibling with identical HLA status, in 1 case an unrelated donor with HLA-compatible, and in 1 case a mismatched unrelated donor. A complete multidisciplinary evaluation was performed yearly. Successful engraftment was achieved in all patients, with the proportion of donor cells reaching > or =95% 1 month after transplantation in all patients. Patients have been followed from between 7 and 17 years and all are still alive, except for 1 boy who died at the age of 10 from unrelated causes. Cardiovascular abnormalities stabilized in all patients, hepatosplenomegaly resolved, and joint stiffness improved, Perceptual hearing defects remained stable, and transmission hearing defects improved. Only 1 child required subsequent surgery to correct kyphosis. Neuropsychological outcome was variable and appeared to be related to the severity of the syndrome. Bone marrow transplantation is effective on the no neuropsychological symptoms of Hunter disease.
  The Journal of pediatrics 01/2009; 154(5):733-7. · 4.02 Impact Factor
• Source

  Available from: Christine Vianey-Saban

  Article: Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

  Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cécile Acquaviva, Christine Vianey-Saban, Nathalie Guffon
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  ABSTRACT: Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1. A treatment approach with carglumic acid, the structural analogue of N-acetyl-glutamate, has been proposed to decrease high ammonia levels encountered in MMA and PA crises. We described two patients (one with MMA and one with PA) with hyperammonemia at diagnosis. Carglumic acid, when associated with standard treatment of organic acidurias, may be helpful in normalizing the ammonia level. Even though the usual treatment which decreases toxic metabolites remains the standard, carglumic acid could be helpful in lowering plasma ammonia levels over 400 micromol/L more rapidly.
  Orphanet Journal of Rare Diseases 02/2008; 3:2. · 5.83 Impact Factor