RESUMEN
Two patients with lipoid proteinosis are reported in whom paranoid symptoms were the presenting feature. Both had a long standing impairment of memory and bilateral medial temporal lobe calcification demonstrated by CT scan. Possible associations between the anatomical site of these lesions and the neuropsychiatric manifestations are discussed.
Asunto(s)
Lipidosis/psicología , Proteinosis Lipoidea de Urbach y Wiethe/psicología , Trastornos Neurocognitivos/psicología , Trastornos Paranoides/psicología , Adolescente , Amígdala del Cerebelo/patología , Calcinosis/patología , Ventrículos Cerebrales/patología , Femenino , Humanos , Proteinosis Lipoidea de Urbach y Wiethe/patología , Masculino , Persona de Mediana Edad , Trastornos Neurocognitivos/patología , Pruebas Neuropsicológicas , Trastornos Paranoides/patología , Lóbulo Temporal/patología , Tomografía Computarizada por Rayos XRESUMEN
A sample of 38 clinically unaffected carriers for various lipidoses and their noncarrier relatives was studied with biochemical, psychological, and neuropsychological tests under blind conditions. The largest group of carriers was that for metachromatic leucodystrophy (MLD). The mean activity of arylsulphatase A or cerebroside sulphatase in the obligate carriers was 25%-30% of the control values, some heterozygotes showing little more activity than MLD patients. It was found that compared with the controls all heterozygotes (both obligate and facultative) differ unfavourably in some personality traits and in WISA subtests, including capacity for spatial cognition. These differences are especially obvious in a group of seven MLD carriers from the same family. With respect to reaction times, performance was significantly slower in MLD carriers, and particularly in those with enzyme activity lower than 30% of the control values.
Asunto(s)
Lipidosis/genética , Adolescente , Adulto , Cerebrósido Sulfatasa/análisis , Niño , Electroencefalografía , Potenciales Evocados , Femenino , Heterocigoto , Humanos , Lipidosis/metabolismo , Lipidosis/psicología , Masculino , Persona de Mediana Edad , Linaje , Personalidad , Estimulación Luminosa , Tiempo de Reacción , Escalas de WechslerAsunto(s)
Lipidosis , Rehabilitación Bucal , Adolescente , Conducta Cooperativa , Femenino , Humanos , Lipidosis/psicologíaRESUMEN
The material presented comprises 44 patients with juvenile amaurotic family idiocy. The disease is distinguished from other types of gangliosidoses, and earlier clinical descriptions are reviewed. The median age of the patients at the onset of the diseases was 5.8 years and median duration of life was 18.8 years. It appears probable that the disease takes two different courses. Besides the earlier described accompanying phenomena, dystonic attack with oculogyre crises have been found in some patients, as well as extreme cases of bradycardia. In 77% of the patients psychotic manifestations have been found, chiefly in the form of frightening visual hallucinations. The pathogenesis and clinical observations of the psychoses are discussed and environmental factors are pointed out as contributing to the pathogenesis of the psychoses.