[Hallervorden-Spatz disease: presentation of a new case]. / Enfermedad de Hallervorden-Spatz. Presentación de un caso y experiencia del servicio.

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 syndrome starting between 5-10 years of age, along with later forms which manifest themselves mainly as Parkinson's disease. The MRI findings are of considerable value when diagnosing 'in vivo'; the pathogeny is not clear, despite current theories.

[Munchausen syndrome induced as recurrent imipramine poisoning]. / Síndrome de Munchausen inducido como intoxicación recidivante con imipramina.

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 mother.

[Fahr disease and idiopathic pulmonary hemosiderosis in a 10 year old patient (author's transl)]. / Enfermedad de Fahr y hemosiderosis pulmonar idiopática en un paciente de diez años.

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 idiopathic pulmonary hemosiderosis was made. These two diseases are associated and related because of the autoimmune nature of both of them.

Cirrhosis and heterozygous alpha1-antitrypsin deficiency in a 4-year-old girl.

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 intermediate values. The fact that in the patient, the Z allele was combined with an S allele may have contributed to the severity of the illness.