We describe neurochemical abnormalities found in the brains of 2 patients with autopsy-confirmed Hallervorden-Spatz (HS) disease. In 1 patient, contents of cystine and of glutathione-cysteine mixed disulfide in the globus pallidus were markedly elevated above values for appropriate control subjects. Activity of cysteine dioxygenase, which converts cysteine to cysteine sulfinic acid, was reduced in the globus pallidus, but normal in the frontal cortex and putamen of both patients. gamma-Aminobutyric acid content was markedly decreased in the globus pallidus and substantia nigra of both patients. These results suggest that cysteine accumulates locally in the globus pallidus in Hallervorden-Spatz disease as a result of an enzymatic block in the metabolic pathway from cysteine to taurine. Accumulated cysteine may chelate iron, accounting for the local increase in iron content in Hallervorden-Spatz disease. The combined excess of cysteine and ferrous iron may generate free radicals that damage neuronal membranes to cause the typical morphological changes observed in this disorder.

SUMMARY Survival rates for persons with cerebral palsy were calculated using information front a population‐based registry which has been collecting data since 1952. The 30‐year survival rate approximates 87 per cent. Adverse factors affecting survival are the type of cerebral palsy (spastic quadriplegia having the worst prognosis), epilepsy and severe or profound menial retardation. The length of time over which the data were collected precludes estimating survival time beyond 30 years. RÉSUMÉ Espérame de vie chez, les IMC/1MOC Les taux de survie chez les IMC/IMOC ont été calculés à partir des informations de registres dcar;état‐civil recueillies depuis 1952. Le taux de survie à ans est approximativement de 87 pour cent. Les facleurs négatifs affectanl la survie sont le type dcar;alleinte (les quadriplégic's spastiques ont le plus mauvais pronostic). lcar;épilepsie et lcar;arriération mentale sévére ou profonde. La période durant laquelle les données ont été recueillies ne perniet pas de calculer une espérance de vie au delà de 30 ans. ZUSAMMENFASSUNG Lebenserewartung; von Personal mit Cerebralparese Die Überlebensratcn von Personen mit Cerebralparese wurden anhand eines Registers, in dem seit 1952 Daten gesammelt worden waren, berechnet. Die 30‐Jahre‐Überlebensrate entspricht etwa 87 prozent. Fakiorert, die das Überleben negativ beeinflussen, sind bestimmte A.nen der Cerebralparese (wobei die spastische Tetraplegie die schechtestc Prognose hat). Epilepsic und schwere geistige Relardierung. Die Zeitspanne, in der die Daten gcsammelt wurden. Schlietßt die Beurteilung einer Überlebenszeit von mehr als 30 Jahren aus. RESUMEN Expeclativas de villa de persomts con paralisis cerebral Se calculó el porcentaje de supervivencias de personas con paralisis cerebral utilizando la information suministrada por un registro de una población base, cuyos datos se habia recogido a partir tie 1952. El porcentaje de supervivencia a los 30 años de edad era aproximadamente del 87 por ciento. Los factores que afectan negalivamente la supervivencia son ciertos tipos de paralysis cerebral (la que tiene peor pronoslieo es la cudriplejia espàstica). la epilepsis y un retraso mental profundo o grave. El largo tiempo durante el cual se recogieron los datos. impide hacer la estimación más allá de los 30 años.

Four children had optic nerve hypoplasia with hypopituitarism, and their clinical picture varied with age. The newborn had apnea, hypotonia, seizures, hyopglycemia, and prolong jaundice. The young infant had defective vision, behavioral delay, hypotonia, and seizures. Except for a mildly receding lower jaw and a high-arched palate, the appearance of the patients was not unusual. The fasting blood glucose level was mildly depressed. In two cases the liver was palpable and results of liver function tests were abnormal. The older child, who was blind and mentally retarded, had growth failure. The extent of the pituitary hormone deficiencies was variable, including diabetes insipidus. The septum pellucidum was not invariably absent. Clinical and pathological findings indicate that the brain lesion might be more diffuse than hitherto recognized. Early recognition of this syndrome and timely intervention might diminish serious sequels.

No abstract

No abstract