1/4. Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease.We report a five-year-old boy with 4-hydroxybutyric aciduria. The child presented with global developmental delay, severe hypotonia and myoclonic seizures. The urine 4-hydroxybutyric acid was 1038 times that of normal, and other organic acids related to its further metabolism were also increased. electroencephalography showed findings indicative of cerebral dysfunction. However, other neurophysiological studies were normal. Clinical improvement was observed after the administration of vigabatrin and dextromethorphan. magnetic resonance imaging of the brain revealed cerebellar vermin atrophy and subtle white matter changes in the cerebral hemispheres. fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomographic (FDG PET) scan of the brain showed a marked decrease in the cerebellar metabolism, probably related to atrophy of cerebellar vermis and secondary cerebellar deafferentation. FDG PET scan is found to be of value in the understanding and assessment of brain functional alterations. It may be useful in monitoring and optimizing treatment strategies of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/4. Effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia.INTRODUCTION: Hyperzincaemia and hypercalprotectinaemia with systemic inflammation, recurrent infections, hepatosplenomegaly, arthritis, anemia, cutaneous inflammation, and failure to thrive is an extremely rare disease and no therapy is reported. AIM: To evaluated the effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia in terms of serum cytokine level changes before and after treatment. methods: A 10-year-old girl was admitted suffering from pyoderma gangrenosum, hepatosplenomegaly, anemia that was unresponsive to iron supplementation, persistent inflammation, arthritis, and increased serum zinc. The level of serum calprotectin was extremely high; therefore, we diagnosed hyperzincaemia and hypercalprotectinaemia and started cyclosporine A treatment. Twelve cytokines in serum were measured before and one year after treatment. RESULTS: cyclosporine A was very effective. Her skin lesion and joint pain were alleviated and quality of life was markedly improved. c-reactive protein had decreased and anemia had improved. While zinc levels had fallen, calprotectin remained at an extremely high level. Of the cytokines examined, interleukin -6 serum levels had fallen and interleukin -8 showed a marked reduction after treatment. CONCLUSION: cyclosporine A is effective for hyperzincaemia and hypercalprotectinaemia. serum interleukin -8 may be useful in assessing the therapeutic effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/4. Chromatography for diagnosis of metabolic diseases.Chromatographic techniques, including computerized capillary gas chromatography-mass spectrometry and high-performance liquid chromatography with rapid scanning detection are important parts of a multicomponent analytical system designed for the diagnosis of human metabolic disorders. The usefulness of such a system is exemplified by the finding of a new case with the very rare disease hypersarcosinuria and the detection of unusual metabolites in a case of phenylketonuria.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/4. Management of primary idiopathic hyperphosphatasemia with calcitonin: a case report.We describe a patient with primary idiopathic hyperphosphatasemia, a rare hereditary disease caused by a primary enzymatic disorder. The clinical, radiological, histological and biochemical features of the disease and their response to treatment with calcitonin are described. We recommend calcitonin for this rare disease in specialist units. It leads to improvement in many markers and better function.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |