Juvenile Amaurotic Idiocy: A Case Report

1961 ◽  
Vol 107 (450) ◽  
pp. 931-935 ◽  
Author(s):  
John Johnson
Keyword(s):  
Case Report ◽  
Optic Atrophy ◽  
Normal Development ◽  
Pathological Changes ◽  
Infantile Form ◽  
Juvenile Form ◽  
Mental Deterioration ◽  
Tay Sachs Disease ◽  
Rate Of Progression ◽  
Juvenile Amaurotic Idiocy

The first clinical histories of this condition were reported in Norway by Stengel (1826). Batten (1903) described changes in the macula in two members of a family who had undergone progressive mental deterioration with loss of visual and motor functions. Vogt (1906) published similar cases and attempted to delimit them as a juvenile form of Tay Sachs disease. It differed from the infantile form in that it occurred in childhood after a period of normal development; the rate of progression was slower; it was not limited to Jewish children and the ophthalmological appearances were those of optic atrophy. The following year Spielmeyer described the pathological changes in juvenile Tay Sachs disease as essentially similar to the infantile form. Further detailed pathological studies were made by Greenfield and Holmes (1925).

Chemical and Pathological Findings in a Case of Late Infantile Amaurotic Family Idiocy of the Batten Type

1958 ◽  
Vol 104 (434) ◽  
pp. 91-102 ◽  
Author(s):  
A. H. Tingey ◽  
R. M. Norman ◽  
H. Urich ◽  
W. H. Beasley
Keyword(s):  
Individual Case ◽  
Pathological Findings ◽  
Infantile Form ◽  
Juvenile Form ◽  
Amaurotic Idiocy ◽  
Tay Sachs Disease ◽  
Decisive Importance ◽  
Juvenile Type ◽  
Batten's Disease

The customary classification of the amaurotic family idiocies according to the time of life at which neurological signs first appear has obvious limitations when consideration is given to cases occupying an intermediate position between the well-established infantile form of Tay-Sachs' and the juvenile form first described by Batten (1903). It was to this group of atypical cases that Bielschowsky (1913–14, 1920) gave the name “late infantile”. This term is convenient clinically but when more examples of the variant had been reported it became evident that the group of cases so designated was not homogeneous. Wyburn-Mason (1943) was able to show in a large clinical material that many of these intermediate forms belonged either to families affected by Tay-Sachs' or by Batten's disease and that in an individual case the ophthalmological findings were usually of decisive importance in classification. The existence of a precocious variant of the classical “juvenile” type of amaurotic idiocy was thus clearly established. Klenk's (1939) discovery that the nerve cells in Tay-Sachs' disease contain large amounts of a glycolipid subsequently called “ganglioside” has provided a further valuable criterion in distinguishing this form of lipidosis from other members of the group. The present case, an example of the precocious juvenile type of amaurotic idiocy or, as we prefer to name it, the subacute form of Batten's disease, is presented as a further contribution to this subject.

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

scholarly journals A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

1990 ◽  
Vol 265 (13) ◽  
pp. 7324-7330 ◽  
Author(s):  
S Akli ◽  
J Chelly ◽  
C Mezard ◽  
S Gandy ◽  
A Kahn ◽  
...  
Keyword(s):  
Splice Site ◽  
Infantile Form ◽  
Tay Sachs Disease

Leber Optic Atrophy Low Vision Case Report

1988 ◽  
Vol 65 (3) ◽  
pp. 209-211 ◽  
Author(s):  
SHERRI LEBOLT BECKER ◽  
ROD W. NOWAKOWSKI
Keyword(s):  
Case Report ◽  
Optic Atrophy ◽  
Low Vision

Congenital Juvenile Chronic Myelogenous Leukemia: Case Report and Review

PEDIATRICS ◽  
1984 ◽  
Vol 73 (3) ◽  
pp. 324-326
Author(s):  
Reese H. Clark ◽  
Leslie L. Taylor ◽  
Robert J. Wells
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Chronic Myelogenous Leukemia ◽  
Peripheral Blood ◽  
Blast Crisis ◽  
Myelogenous Leukemia ◽  
Juvenile Form

The case of a patient with ecchymosis, hepatomegaly, leukocytosis, thrombocytopenia, and anemia at birth is presented. Throughout his course, thrombocytopenia, anemia, and leukocytosis without a marked increase in the number of blast forms in either peripheral blood or bone marrow persisted until the patient developed a blast crisis shortly before his death at age 4 months. This patient is the youngest reported to have the juvenile form of chronic myelogenous leukemia and the first that in the present era can be considered congenital in origin.

Case report: Hallucinations as depressive equivalents

2016 ◽  
Vol 33 (S1) ◽  
pp. S154-S154
Author(s):  
E. Garcia ◽  
I. Vicente ◽  
R. Martínez
Keyword(s):  
Social Support ◽  
Case Report ◽  
Affective Disorder ◽  
Normal Development ◽  
The Other ◽  
Social Intervention ◽  
Common Symptom ◽  
Difficult Diagnosis ◽  
Competing Interest ◽  
Short Time

We comment the case of a 12 years old girl who started with visual and auditive hallucinations. Hallucinations are not a common symptom between children. They may also be linked to many conditions, some of them with poor outcome as schizophrenia. Symptoms appeared in a short time, after a previous normal development. She talked about a man who followed her and that was always behind, she also had heard some insults of undeterminated voices. These symptoms were just of one-month duration and made her feel anxious and very afraid. After a normal organical study and a first proposal of medication they asked for our consultation. We found that the patient was alone at home every afternoon. Family, from other country, hadn’t any social support, and the father had had to travel away some days before the child began to suffer hallucinations. Suspecting an affective disorder as the basis of anxious symptoms, and hallucinations as a cultural presentation of them, we started with a social intervention mixed with support therapy. After some sessions the patient could talk about her loneliness and fears, disappearing the other symptoms. We will resume this case and literature about other cultural presentations that may difficult diagnosis or treatment.Disclosure of interestThe authors have not supplied their declaration of competing interest.

An Anesthetic Experience in a Patient with Tay-Sachs Disease - A case report -

2007 ◽  
Vol 52 (1) ◽  
pp. 107
Author(s):  
Seong-su Kim ◽  
Suk-ju Cho ◽  
Hwa-sung Jung
Keyword(s):  
Case Report ◽  
Tay Sachs Disease

scholarly journals Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report

2020 ◽  
pp. 014556132094463
Author(s):  
Huiying Sun ◽  
Yufei Qiao ◽  
Na Chen ◽  
Hua Yang ◽  
Zhiqiang Gao ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Otoacoustic Emissions ◽  
Normal Development ◽  
Conductive Hearing Loss ◽  
Newborn Hearing Screening ◽  
Delayed Onset ◽  
Conductive Deafness ◽  
Newborn Hearing ◽  
Conductive Hearing

We report a 6-year-old girl with progressive bilateral conductive hearing loss for 2 years. She passed the newborn hearing screening conducted with otoacoustic emissions testing and had a normal development of speech and language, which indicated that her deafness was delayed-onset. She also had congenital proximal interphalangeal joints. Proximal symphalangism was confirmed by genetic testing ( NOG gene: c.406C > T, p.R136C). Bilateral stapes ankyloses were proved by surgery and her hearing was improved after stapedotomy by over 30 dB. Besides, this case should remind clinicians to carefully distinguish NOG gene-related deafness from congenital ossicular malformation and pediatric otosclerosis.

scholarly journals 'Hallervorden-Spatz syndrome - infantile neuroaxonal dystrophy' complex: case report

1988 ◽  
Vol 46 (1) ◽  
pp. 69-72 ◽  
Author(s):  
A. U. Bresolin ◽  
L. Pascuzzi ◽  
R. Melaragno Filho ◽  
Maria H. Fontana ◽  
R. Pécora ◽  
...  
Keyword(s):  
Case Report ◽  
Cerebral Atrophy ◽  
Neuroaxonal Dystrophy ◽  
Complex Case ◽  
Pathological Examination ◽  
Infantile Neuroaxonal Dystrophy ◽  
Axonal Spheroids ◽  
Mental Deterioration ◽  
One Year ◽  
Red Coloration

Case report of a 7 1/2-years old girl considered as being normal until the age of 2 years. From then on she progressed with gait disturbance, mental deterioration, dystonic movements, convulsions and dysarthria. She died of bronchopneumonia one year later. CT scan showed hyperdensity at the putamina, with no signs of cerebral atrophy. Pathological examination disclosed an intense red coloration of the putamina and axonal «spheroids» at electron microscopy.

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