A Report of Two Cases of the Juvenile Form of Amaurotic Familial Idiocy (Cerebromacular Degeneration)

Abstract

The cerebral lipidoses are rare diseases, which have few certain links in common beyond the shared facts of disturbed lipid metabolism, progressive mental deterioration coming on early in life, and a heredofamilial pattern of occurrence. In NiemannPick's disease, Gaucher's disease, and xanthomatosis, the lesions of the nervous system are part of a disorder which affects many tissues, though in each of these varieties the intracellular lipid material is different. On the other hand, in the various forms of cerebromacular degeneration (amaurotic familial idiocy), it is generally believed that the nervous system suffers alone. It is for that reason that two cases of amaurotic idiocy are presented, occurring in siblings, since they show some features hitherto only described in association with the generalized lipidoses. MaterialWilliam and Annette B. are the first and second children in a family of five. Their younger siblings, male and female, not identical twins of 12, and a sister aged 7, are completely normal. Their parents are of English stock, and not related. On the paternal side, there is a general tendency to pyknic build and a high incidence of early deafness (believed due to otosclerosis) in the female members of the family. On the maternal side, psoriasis is apparently common, chiefly in the females. There is no family history of blindness, dementia, epilepsy, or other neurological disorder and no polydactyly.Case 1 His birth was normal, and his mother had been well through pregnancy. Development in infancy and early childhood was uneventful, though there was a tendency to excess weight from an early age. He walked at 13 months, and was talking by 16 months. He went to an elementary school at the age of 5, where he made average progress until he was 8, when impairment of vision in both eyes was first noticed. The latter increased, and at 91 he had to be transferred to a blind school. By this time some intellectual decline was evident, with forgetfulness and difficulty in learning, which prevented him mastering even the rudiments of braille. When he was about 16, he became totally blind, and at the same stage his mental decay seemed to advance more rapidly. He was soon unable to dress himself, to attend to his toilet, or to feed without supervision, and he began to put on more weight. Normal conversation with him became impossible, because he seemed constantly taken up with an imaginary world. In the last two or three years his gait had gradually become abnormal and slightly unsteady, and recently he had often been incontinent in his clothes.Mental State.-He was talkative, fatuous, and inclined to giggle excessively. He could give his name correctly and, with hesitation, his address and the day and month of his birth but not the year. It was impossible to get any account of his illness from him. He was disorientated in time and place, though sometimes he was aware of being in hospital. He could not answer the simplest questions in general knowledge, and could not add, subtract, write, or spell. He talked ...