Familial Mental Deficiency Akin to Amaurotic Idiocy and Gargoylism

Gargoylism (Lipochondrodystrophy)

“…The pituitary gland was normal. However, in an atypical case previously described 24 and in the present 2 cases of formes frustes lesions of the central nervous system were observed entirely similar to those described in the complete forms of the disease. Histologically, there was considerable irregularity in the size of follicles, but the epithelium appeared normal.…”

Gargoylism (Lipochondrodystrophy)

“…The pituitary gland was normal. However, in an atypical case previously described 24 and in the present 2 cases of formes frustes lesions of the central nervous system were observed entirely similar to those described in the complete forms of the disease. Histologically, there was considerable irregularity in the size of follicles, but the epithelium appeared normal.…”

Changes in the Voluntary Muscles and the Peripheral Nerves in an Autopsy Case of MPS Type Ii (Hunter)

“…Although in MPS cause of neuronal storage within the central nervous system has not yet been entirely clarified, repeated findings oE elevated ganglioside levels in the central nervous tissue in the mucopolysaccharidoses (Jervis 1942 Landing et al 1967) indicate that the stored substances may chiefly be gangliosides, the accumulation oE which is probably due to an increased synthesis secondary to the elevated amount of polysaccharides (Hagberg 1973, p.476). The intraneuronal predominance of gangliosides when compared to the small amount of mucopolysaccharides, has been further confirmed by electron microscopic investigations (Aleu et al 1965, Loeb et al 1968, Meier et al 1979.…”

A Chemical Approach to the Problem of Mental Disease.

“…For over a quarter of a century it has been known that severe mental disturbances accompany certain inborn metabolic disorders, such as phenylketonuria, methemoglobinemia, and porphyria (2 1). Phenylketonurics generally develop severe mental retardation; and, although some evidence points to the abnormality of phenylalanine metabolism as the cause of the mental disturbance (22), the problem is in need of considerably more exploration.…”

Gargoylism (Lipochondrodystrophy)

“…The pituitary gland was normal. However, in an atypical case previously described 24 and in the present 2 cases of formes frustes lesions of the central nervous system were observed entirely similar to those described in the complete forms of the disease. Histologically, there was considerable irregularity in the size of follicles, but the epithelium appeared normal.…”

Changes in the Voluntary Muscles and the Peripheral Nerves in an Autopsy Case of MPS Type Ii (Hunter)

“…Although in MPS cause of neuronal storage within the central nervous system has not yet been entirely clarified, repeated findings oE elevated ganglioside levels in the central nervous tissue in the mucopolysaccharidoses (Jervis 1942 Landing et al 1967) indicate that the stored substances may chiefly be gangliosides, the accumulation oE which is probably due to an increased synthesis secondary to the elevated amount of polysaccharides (Hagberg 1973, p.476). The intraneuronal predominance of gangliosides when compared to the small amount of mucopolysaccharides, has been further confirmed by electron microscopic investigations (Aleu et al 1965, Loeb et al 1968, Meier et al 1979.…”

A Chemical Approach to the Problem of Mental Disease.

“…For over a quarter of a century it has been known that severe mental disturbances accompany certain inborn metabolic disorders, such as phenylketonuria, methemoglobinemia, and porphyria (2 1). Phenylketonurics generally develop severe mental retardation; and, although some evidence points to the abnormality of phenylalanine metabolism as the cause of the mental disturbance (22), the problem is in need of considerably more exploration.…”

Gargoylism (Lipochondrodystrophy)

“…The pituitary gland was normal. However, in an atypical case previously described 24 and in the present 2 cases of formes frustes lesions of the central nervous system were observed entirely similar to those described in the complete forms of the disease. Histologically, there was considerable irregularity in the size of follicles, but the epithelium appeared normal.…”

Changes in the Voluntary Muscles and the Peripheral Nerves in an Autopsy Case of MPS Type Ii (Hunter)

“…Although in MPS cause of neuronal storage within the central nervous system has not yet been entirely clarified, repeated findings oE elevated ganglioside levels in the central nervous tissue in the mucopolysaccharidoses (Jervis 1942 Landing et al 1967) indicate that the stored substances may chiefly be gangliosides, the accumulation oE which is probably due to an increased synthesis secondary to the elevated amount of polysaccharides (Hagberg 1973, p.476). The intraneuronal predominance of gangliosides when compared to the small amount of mucopolysaccharides, has been further confirmed by electron microscopic investigations (Aleu et al 1965, Loeb et al 1968, Meier et al 1979.…”

A Chemical Approach to the Problem of Mental Disease.

“…For over a quarter of a century it has been known that severe mental disturbances accompany certain inborn metabolic disorders, such as phenylketonuria, methemoglobinemia, and porphyria (2 1). Phenylketonurics generally develop severe mental retardation; and, although some evidence points to the abnormality of phenylalanine metabolism as the cause of the mental disturbance (22), the problem is in need of considerably more exploration.…”