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At least 19 recordsLinked to original sources
PubMed1989

Histopathological study on a case of idiocy--morphological mechanism of idiocy appearance.

A male, aged 42, had idiocy without any somatic or neurological signs. In laboratory examination, no abnormal finding could be observed. Brain weight was 1,330 g. and no abnormal finding was observed macroscopically. Histopathologically, gross changes were not observed, however, many nerve cells contained a lot of lipofuscin granules in the cytoplasms for the patient's age. Some astrocytes in the cerebral cortex contained homogenous amorphous inclusion bodies in their cytoplasms. From these findings, it was speculated that the change of astrocyte may play an important role in causing mental deficiency.

Adult↗
PubMed2000

Idiocy in nineteenth-century fiction compared with medical perspectives of the time.

Portrayals of characters with an intellectual impairment in nineteenth-century prose fiction are analyzed. In the earlier works idiocy is imprecisely differentiated from madness or eccentricity and the characters are mostly shown as socially and psychologically marginal and 'other'. In the later works a greater naturalism and a more precise notion of idiocy as a distinct condition is evident. Literary depiction of intellectual impairment or idiocy occurs in the seventeenth and eighteenth centuries but as an abstract condition; interest in the lives and personalities of people with an intellectual impairment is new to the nineteenth century. This, it is argued, is connected with a developing interest in ordinary people. The portrayals in the selected works are related to changing medical perspectives on idiocy and how it should be treated during the period, in particular to the publicizing during the eighteen forties of the view that idiocy could be ameliorated through education.

History, 19th Century↗
PubMed2001

Idiocy and the law in colonial New England.

A review of the laws and records of the courts of colonial New England indicate some ways the early settlers thought about and responded to idiocy. Early Massachusetts laws extended certain rights to idiots: They authorized the transfer of property, exonerated idiots who committed capital crimes, and extended relief to idiots who were impoverished. There is no documentation of the implementation of these laws nor is there direct reference to idiocy in court proceedings. Nevertheless, the court records identify certain individuals with incompetence and atypical behavior suggestive of idiocy. Most of the colonial laws as well as the colonists' ways of thinking about idiocy originated in English common law and custom. The New England colonial laws and records of the courts offer insights into contemporary issues regarding mental retardation.

Criminal Law↗
PubMed1974

Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses).

Skin biopsies have been performed in five cases belonging to the group of neuronal ceroid-lipofuscinoses (two cases of late infantile amaurotic idiocy with curvilinear cytosomes and three cases of juvenile amaurotic idiocy) and in twelve controls. In the late infantile amaurotic idiocy, cytosomes with curvilinear profiles were easily discovered in the epithelial cells and in the various skin appendages. A clinical diagnosis can therefore be readily supported by an innocuous and repeatable procedure. In juvenile amaurotic idiocy, pleiomorphic cytosomes with prevalent curvilinear profiles can be found in the skin appendages; they are smaller, less abundant and a more careful search is necessary to discover them.

Appendix↗
PubMed1975

[The so-called amaurotic idiocies. Clinical, morphological and biochemical findings as a basis for modern classification].

First of all seven of our own thoroughly investigated cases of so-called amaurotic idiocies are presented, they are two infantile, two juvenile, two late infantile one, as well as one adult case. The two infantile cases represent the typ of a GM2-gangliosidosis: with cerebral symptoms and cherry-red spot in the macula they correspond clinically to the typical picture of Tay-Sachs disease. Lightmicroscopically they show neuronal storage, electronmicroscopically a deposition of "membranous cytoplasmic bodies" and biochemically a strong increase in ganglioside GM2. The two juvenile cases correspond in their symptoms and findings to the so-called ceroid-lipofuscinoses or "Myoclonic variant of amaurotic idiocy", respectively. Clinically most remarkable is the deterioration of vision caused by retinitis-pigmentosa-like changes of the fundus, which sets in at the beginning of the disease and precedes the cerebral symptoms by years. The extinguished electroretinogramm corresponds in the histological retina findings to a severe lesion of the layer of rods and cones in the sense of a tapeto-retinal degeneration. Neuropathologically finegranular, Sudan-Black-B- and PAS-positive material is mainly but not exclusively stored in the neurons. The electronmicroscope shows them to be lipofuscin-like inclusions, as well as "curvilinear" or "fingerprint-bodies". Depositions are also to be found in astrocytes and in the cells of the vascular walls. The ganglioside pattern is normal in the brain tissue of the biochemically investigated case. Of the two late infantile cases the first represents a GM2-gangliosidosis, the second one corresponds to the ceroid-lipofuscinosis. The adult patient, who suffered from an ill-defined psychiatric disease and died at the age of 51 presents a diagnostically problematic case, showing a relatively slight, regionally rather differently accentuated intraneuronal storage of granular material and biochemically a slight increase in ganglioside GM2. On discussing our own findings and commenting on the relevant literature various aspects of amaurotic idiocies are considered, such as genetics, neuropsychiatry, ophthalmology, pathomorphology and biochemistry. In this respect special attention is paid to the pathomorphological substrate documented, as localization, degree and kind of tissue changes determine the clinical picture. This is also the case for the correlation between the findings of the different fields, so e.g. concerning the ophthalmological findings it is shown, that in gangliosidoses with preserved ERG histologically a storage in the nerve cells of the ganglion cell-layer only is to be found, where as the ceroid-lipofuscinoses with early onset of deterioration of vision and extinguished ERG in the histological picture of the retina show an additional severe lesion of the layer of rods and cones...

Adolescent↗
PubMed1977

Ultrastructural study of the vacuoles in the peripheral lymphocytes in juvenile amaurotic idiocy. Juvenile form of generalized ceroid lipofuscinosis.

Lymphocytes of the peripheral blood of 31 patients with juvenile amaurotic idiocy (juvenile form of ceroid lipofuscinosis) were examined with the electron microscope. In all cases, intracytoplasmic clear vacuoles were present, containing round hollow, fingerprint and highly electron dense structures. The combination of these structures, not necessarily in one and the same vacuole, was considered to be highly indicative for the diagnosis of juvenile amaurotic idiocy. In addition to these three structures, parallel tubular inclusion bodies, rectilinear profiles and rod-shaped structures were found but in a number of the cases. The parallel tubular inclusion bodies were not regarded as having any diagnostic significance.

Adolescent↗
PubMed1976

Ultrastructural study of so-called curvilinear bodies and fingerprint structures in lymphocytes in late-infantile amaurotic idiocy.

Peripheral lymphocytes of 6 patients with late-infantile amaurotic idiocy were examined with the electron microscope for the occurrence of curvilinear bodies and fingerprint structures. In 3 of the patients predominantly curvilinear bodies were found; in 1 case they contained some fingerprint profiles. In the remaining 3 patients curvilinear bodies were relatively scarce, whereas fingerprint structures prevailed. Moreover, pleomorphic bodies with rectilinear profiles and parallel tubular inclusion bodies were present. No lymphocytes with vacuoles were observed in any of the patients. The sural nerve biopsies of all patients revealed curvilinear bodies. This tissue consequently may be considered to give more reliable information in comparison with the lymphocyte. The likelihood of transition of one type inclusion body into another, the specificity of the curvilinear body and, to our mind, the rigid classification of the amaurotic idiocy into a curvilinear and a fingerprint type, are discussed.

Child↗
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↗
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↗
PubMed1975

Multilamellar cytosomes in a particular form of late-infantile amaurotic idiocy.

There is a particular form of late-infantile amaurotic idiocy in which no clear chemical-pathological or unique enzyme abnormalities have been identified to date. A distinctive morphological feature has been recognized on electron microscopical examination of tissues from these patients, which has been descriptively labeled with various terms, including "multilamellar cytosomes" (MLC). Illustrations of MLC in a patient with this late-infantile form of cerebroretinal degeneration show their reactivity with the periodic acid-silver methenamine reaction for glycoproteins. The MLC are shown to be morphologically identical in cerebral tissue obtained at biopsy, in the same tissue obtained three years later at autopsy, and in skeletal muscle.

Brain↗
PubMed1978

Juvenile amaurotic idiocy (neuronal ceroid lipofuscinosis) and lymphocyte fingerprint profiles.

Lymphocytes from 3 children with a form of juvenile amaurotic idiocy (characterized by retinal blindness, progressive dementia, and extrapyramidal motor disturbance) were studied by electron microscopy. Numerous fingerprint profiles (FP) were found in vacuolated lymphocytes from all 3 patients and an asymptomatic younger sibling of 1 patient who subsequently became symptomatic. We propose that the combination of this clinical picture and vacuolated lymphocytes with FP is sufficiently distinctive for clinical and research purposes until the biochemical defect is discovered. Wider utilization of ultrastructural study of lymphocytes should increase the number of children diagnosed and allow detection of asymptomatic patients.

Adolescent↗
PubMed1981

[Chance and discovery in research on the cause of infantile amaurotic idiocy].

Infantile amaurotic idiocy-the classical type known as "Tay-Sachs disease" -is the consequence of the accumulation of a ganglioside and a closely related derivation in the human brain. The accumulation of both substances is due to a genetically induced deficiency of their common catabolic enzyme system. K. Sandhoff discovered three enzymic variants of the disease, which, taken together, did not reveal any apparent causal relationship between enzymic defect and substrate accumulation. The role of chance and discovery in finding the three variants as well as in the elucidation of their causes is described.

Acetylglucosaminidase↗
PubMed1977

Atypical GM1 ganglioside accumulation in a case of juvenile amaurotic idiocy.

The brain and liver from a 7-year-old Japanese girl with juvenile amaurotic idiocy were examined neuropathologically and biochemically. Visceromegaly and skeletal abnormalities were absent. Nerve cells in the central nervous system were swollen and contained fine fat granules. Electronmicroscopically, there were large numbers of irregular bodies in the perikarya and these corresponded to the curvilinear and membranous cytoplasmic bodies. Lipid analysis of the brain revealed that GM1 ganglioside was increased in the parietal and occipital areas, while the frontal lobe showed a normal ganglioside pattern. N-Acetyl neuraminic acid (NANA) content in all areas was not elevated. Determinations of beta-galactosidase activity were within normal ranges. The liver had no accumulation of GM1 ganglioside and showed a normal beta-galactosidase activity. These unusual findings in GM1 gangliosidosis were discussed.

Brain↗
PubMedDate not supplied

Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study.

A case of congenital amaurotic idiocy, a subgroup of the neurovisceral lipidoses, is described. This is a rare condition of which only five cases have been reported previously. The brain was small and firm with marked neuronal loss and gliosis. Granular material with histochemical properties of the ceroid-lipofuscin group of lipopigments was found deposited within astrocytes, macrophages and residual brain stem neurons. Cells of the mononuclear phagocyte system within the liver, spleen, thymus and lungs contained similar material. Ultrastructurally this substance appeared as intracytoplasmic membranous and granular deposits within limiting membranes, and biochemical analysis of formalin-fixed tissue did not identify a specific material. Comparison is made with the Batten group of disorders.

Astrocytes↗
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↗