Subject(s)
Menkes Kinky Hair Syndrome/pathology , Occipital Bone/abnormalities , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adenosine Triphosphatases/genetics , Adenosine Triphosphatases/metabolism , Cation Transport Proteins/genetics , Cation Transport Proteins/metabolism , Child , Child, Preschool , Copper-Transporting ATPases , Epilepsies, Myoclonic/pathology , Face/abnormalities , Face/pathology , Follow-Up Studies , Humans , Infant , Karyotyping , Male , Menkes Kinky Hair Syndrome/genetics , Menkes Kinky Hair Syndrome/metabolism , Microcephaly/pathology , Mutation , RNA, Messenger/genetics , RNA, Messenger/metabolism , Recombinant Fusion Proteins/genetics , Recombinant Fusion Proteins/metabolism , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
OBJECTIVES: Gaucher's disease is a rare genetic disease. Paediatric patients present with highly severe disease and, until now, literature does not provide many descriptions in children only. A specific enzyme replacement therapy has been available for the last decade. Quality of life has been improved by the treatment. POPULATION AND METHODS: We studied 17 Gaucher patients (14 type 1 and 3 type 3) diagnosed before the age of 15 and treated afterwards. The first clinical signs and the course of the disease are described before and during treatment. To appreciate the impact of the treatment on quality of life, we established a clinical score with the functional symptoms of the patients. RESULTS: The mean age was 6.4 years at diagnosis and 18.3 years at the beginning of the treatment. With specific treatment, all clinical and biological symptoms dramatically improved but some specific organic damages were irreversible. CONCLUSION: The comparison of our patients with other reported paediatric cases confirm that Gaucher's disease in children is severe and has to be precociously diagnosed and treated. Clinical scores appeared to be helpful to choose the moment for treating and to follow-up the patients under treatment.
Subject(s)
Gaucher Disease/drug therapy , Gaucher Disease/pathology , Glucosylceramidase/therapeutic use , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Prognosis , Quality of Life , Retrospective Studies , Severity of Illness Index , Treatment OutcomeABSTRACT
Prion diseases are rare neurologic affections with a poor prognosis, occurring in both humans and animals. Creutzfeldt-Jakob disease (CJD) secondary to human extracted growth hormone treatment is the most frequent condition in pediatrics. In 1994, a new type of CJD (variant CJD) was described in young adults in the United Kingdom, only 10 years after the bovine spongiform encephalopathy epidemic, with recent works showing a direct relationship between the bovine epidemic and the human cases. An accumulation of a single protein called the prion protein (PrP) has been discovered in the brain in all of these cases, animal and human, leading to the hypothesis that a new infectious agent could proceed without any nuclear acid information; another hypothesis is that of a still unknown viral agent. The PRNP gene encoding for this PrP protein is well described: some mutations and a polymorphism in the 129th codon have been shown to be implicated in many cases of CJD. PrP is a ubiquitous protein, with yet unknown physiological function. There are still many questions to be answered: shall we expect new pediatric cases of variant CJD? Assuming that animal-human contamination is related to alimentation, are there other ways of contamination.
