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Results for “AMAUROTIC FAMILIAL IDIOCY”

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At least 19 recordsLinked to original sources
PubMed1975

Ceroid-lipofuscinosis (Batten disease). Fluorescein angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy.

Three children with ceroid-lipofuscinosis and their mother wer investigated fluorescein angiographically and electrophysiologically after definitive diagnosis of the oldest child had been made from a brain biopsy specimen studied biochemically, histopathologically, and ultrastructurally. The diagnostic features of the two classes of familial amaurotic idiocy (the gangliosidoses and the ceroidlipofuscinoses) are reviewed with emphasis on the importance of the fundus picture and fluorescein angiographic study in differentiating the two classes of disease and in identifying affected siblings.

Adult↗
PubMed1979

A clinical study of 44 patients with juvenile amaurotic family idiocy.

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.

Adolescent↗
PubMed1976

[Late amaurotic familial idiocy with curvilinear bodies and finger prints. Report of a case studied using electron microscopy].

A case of late amaurotic family idiocy of "curvilinear bodies" and "finger prints" is presented. The patient was a .7 year-old non-Jewish boy with convulsions and mental deterioration. A male sibling died at age 12 with a similar picture and a younger brother is starting also with the same symptoms. Biopsy of the brain disclosed a PAS, Sudan black and oil red O positive granular material in the cytoplasm of a large population of cortical neurons. An electron microscopy study disclosed that the stored lipid was composed of masses of so-called "curvilinear bodies" and "finger prints". The same material was found within the cytoplasm of a ganglion cell as well as in endothelial cells of mucosa of the rectum obtained by biopsy. This new variety of amaurotic family idiocy does not occur in Jewish people and the stored lipid is not a ganglioside. It is emphasized that rectal biopsies, as well as the electronmicroscope are useful tools for a more precise diagnosis of the form of storage disease.

Biopsy↗