A case of clinical juvenile amaurotic idiocy with the histological picture of Alzheimer's disease.

The clinical picture of juvenile amaurotic idiocy was originally described in Norway by Stengel in 1826. He observed four siblings with normal development up to the age of 6 years when amaurosis and subsequent mental disorders developed. From the age of 14 years convulsive seizures were noted. The disease ran a progressive course and the patients died at the age of about 20 years. Vogt in Germany in 1905 reported some similar cases and Spielmeyer in 1905 described a typical histopathological picture with globular swelling of the ganglion cells, and balloon-like swellings of the dendrites, due to lipoid deposits in the cytoplasm. In Sweden the disease seems to be relatively frequent. Sjogren (1931) collected 120 cases from 56 families. He examined 4,500 individuals and found a recessive monohybrid heredity. Sjovall and Ericsson (1933) examined biopsy and necropsy specimens from the Swedish cases and described lipoid storage in the cytoplasm of the nerve cells, especially in the cerebral cortex, and also in the Purkinje cells and in the neostriatum. They also pointed out an unusual macroglial reaction with lipoidosis of the glial cells. They found the picture not unlike that seen in normal senescence. Josephy (1936) advised caution in basing the diagnosis on the clinical picture alone in the absence of a typical histological picture. Sj6gren, however, held the opinion that a definite diagnosis could be based on the clinical picture alone, because this was exactly the same from case to case. He emphasized that the disease usually starts at the age of 5 to 8 years with a progressive decrease of vision, leading to complete amaurosis after one or two years. The papillae in the earlier stages are brownishyellow, later pale yellow or white, often with concentric zones. The retinal vessels, especially the arteries, are narrow, and atrophic areas occur in the eye ground. The pigmentations are granular, increasing toward the periphery. In the final stages a bilateral posterior cataract may develop, and the pupillary reflex is abolished. Increasing dementii is a constant feature with disorders of the different intellectual spheres including understanding, memory, and judgment. There may be emotional lability with seizures of weeping and unmotivated laughter. The behaviour varies between laziness and restlessness but the patient is often able to obey orders. In a more advanced stage postural anomalies appear, with general weakness, kyphosis, genu valgum, and pes planus. The gait becomes unsteady and shuffling, and the patient may move for a time in one spot before starting to walk with the feet apart and dragging on the ground. There is a slow intention tremor involving the entire body when the patient starts walking (demarche trepidante). The speech becomes slurred, stuttering, and monotonous, and there is paucity of words and agrammatism. Facial mimicry is lost. The hearing is good; the reflexes are normal or increased. An oily appearance of the face and acrocyanosis indicate disturbed vegetative functions. Epileptic fits may sometimes be observed early, but usually not until the blindness has become manifest. In the later stages contractures, rigidity, fibrillary muscular tremor, and decubitus follow, and the patients die from intercurrent diseases. In Norway juvenile amaurotic idiocy is rare. By questioning all mental hospitals and blind schools 10 cases have been found, including the patient reported here, and his brother.