Juvenile amaurotic family idiocy

Juvenile Amaurotic Family Idiocy Definition and Introduction 

The onset of the disease occurs usually between the ages of five and seven years and coincides with the time of second dentification (Sjogren 1931). Rarely does the disease become manifest before the fourth or after the tenth years of life. Therefore, the first intellectual and visual changes become apparent towards the end of the first year of school, while at its beginning the children may be completely asymptomatic. When the disease occurred in siblings it became manifest at similar ages (Sjogren 1931). 

The incidence is similar in male and female children. In the material of Sjogren, the proportion of males to females was 64 56. 

In contrast to the infantile type of amaurotic family idiocy (Tay-Sachs disease), none of the patients with JAFI came from Jewish families (Jervis 1959, Diezel 1962). JAFI in a Negro girl could be confirmed at autopsy. Familial occurrence was observed in the majority of reported cases. Details on the heredity of JAFI are given by Fuhrmann in a separate chapter. 

The first signs consist of mental deterioration and decrease of visual acuity, both of which may be difficult to substantiate in this particular age group. Progressive deterioration of vision was the first symptom in most cases reviewed by Sjogren (1931). It occurred rarely before the age of six or after the age of ten. Progression is rapid after a couple of years vision has usually deteriorated to perception of contours only from a close distance. Finally, complete blindness ensues. 

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IV. Juvenile Amaurotic Family Idiocy Definition and Introduction... 

In patients suffering from juvenile amaurotic family idiocy and apparently in symptomfree heterozygotes, too, Bessman and Baldwin (1962) found generalized imidazolaminaciduria. Since the aminoacids concerned did not appear to be increased in the serum of these persons, their excretion probably is caused not by a primary defect of an enzyme but by disturbed tubular function. 

Infantile amaurotic familial idiocy is a hereditary disease transmitted as an autosomal recessive trait resulting in the accumulation of gangliosides in the brain cells. The main clinical manifestations are dementia, paralysis, and blindness. The disease has been most frequently described among Jews, and it is generally restricted to children 6 months to 3 years old. However, late infantile and even juvenile forms have been described. 

There is no question that there is ganglioside storage in TSD. In addition, recent analyses have shown that gangliosides are also increased in the late-infantile amaurotic family idiocy. Variable findings have been reported for the juvenile form, and increased gangliosides have not yet been found in the adult variety. 

There are many signs and symptoms common to LIAFI as well as TSD, such as hyperacusis, muscular twitching, irritability and decreasing response to the environment. However, bouts of screaming or laughter are rare and, in contrast to TSD, initial symptoms include loss of intellectual capacity and impairment of speech rather than progressive motor weakness and impaired mobility. In general, the symptoms resemble more those of the juvenile type of amaurotic family idiocy. 

Craig, J. M.,J.T.CLARKE,andB.Q.Banker Metabolic neurovisceral disorder with accumulation of unidentified substance variant of Hurler s Syndrome Amer. J. Dis. Child. 98,577 (1959). Craig, W. S. Gargoylism in a twin brother and sister. Arch. Dis. Child. 29, 293 (1954). Crawley, J. W. Three cases of the juvenile form of amaurotic family idiocy (Vogt-Spielmeyer disease) with electroencephalographic findings. J. Pediat. 61, 571 (1957). 

Jefferson, M., and M. L. Rutter A report of two cases of the juvenile form of amaurotic familial idiocy (cerebromacular degeneration). J. Neurol. Neurosurg. Psychiat. 21,31 (1958). Jervis, G. A. Familial mental deficiency akin to amaurotic idiocy and gargoylism. A apparently new type. Arch. Neurol. Psychiat. (Chic.) 47, 943 (1942). 

The detection of biochemical differences between infantile amaurotic family idiocy and the juvenile form clearly demonstrated heterogeny. 

Neuronal ceroid lipofuscinosis, or Familial amaurotic idiocy (a sphingolipidosis). Types Santa-vuoii (infantiie), Jansky-Blelschowsky (late infantile), Batten-Splelmeyer-Vogt (juvenile), Kttfs (adult). 

Difficulties in differential diagnosis result from the chronic course. According to Hallervorden (1938), distinction from late infantile and juvenile cases is not always possible if these progress slowly. A relationship of these three types of amaurotic idiocy is also suggested by the observation of Zeman and Hoffmann (1962) who saw cases of juvenile and adult amaurotic idiocy in one family. Morphologically, differentiation from Alzheimer s disease may be difficult (Diezel 1962). 

JuLiAO, V. T., H. M. Canelas, and N. A. Longo Juvenile form of familial amaurotic idiocy clinical and laboratory studies of the cases. Arq. neuropsiquiat. 14, 136 (1957). Cited after Spiegel-Adolf et al. (1959). 

Levin, B., V. G. Oberholzer, G. J. A. I. Snodgrass, L. Stimmler, and H. J. Wilmers Fructosaemia an inborn error of fructose metabolism. Arch. Dis. Childh. 38, 220 (1963). Levy, S., and A. 0. G. Little Juvenile familial amaurotic idiocy (Vogt-Spielmeyer disease). Review of literature and clinical report of a case. Arch. Neurol. Psvchiat. (Chic.) 44, 1274... 

Zeman, W., and J. Hoffmann Juvenile and late forms of amaurotic idiocy in one family. J. Neurol. Neurosurg. Psychiat. 25, 352 (1962). 

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