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A 4-year-old girl with hepatic cirrhosis was found to have alpha1-antitrypsin deficiency. The method of FAGERHOL detected that she is a heterozygous carrier of the Pi SZ type. Investigations with the light and the electron microscope and immunofluorescence tests confirmed the diagnosis. The values of alpha1-antitrypsin and trypsin inhibitory capacity gave(More)
A case of Hallervorden-Spatz's disease is described in a thirteen-year-old patient, with typical case symptoms of pyramidalism, dystonia and regressive motor control, over the last four years. MRI provided a bilateral palidal image in 'tiger eye'. The possible appearance of early forms have been stressed, characterised by a learning delay and a regressive(More)
A 10 year old patient with acute respiratory insufficiency, dispnea, cough, temperature, cyanosis and hemoptisis is presented. Cranial X-rays and scanning revealed basal ganglia calcifications. Intense hypocalcemia and hyperphosphoremia were found as well as response to parathyroid hormone administration. A diagnosis of primary hypoparathyroidism and(More)
A nine-year-old girl with Munchausen syndrome by proxy is reported. She had been admitted to different hospitals for 17 times in the last seven years. Clinical complaint were complex neurological symptoms and the first diagnosis was acute intermittent porphyria. It was demonstrated later that this symptoms were due to imipramine poisoning given by her(More)
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