Caffey's pseudo-hurler syndrome
A ganglioside storage disorder with accumulation in the brain matter and in the hepatic, splenic, and other histiocytes, and in the renal glomerular epithelium, caused by b-galactosidase deficiency; usually neurodegenerative course. Onset from birth
Long list of symptoms and signs include mental and motor retardation, failure to thrive, feeding difficulties, startle response to sound, seizures, hepatosplenomegaly, and Hurler (gargoyle-like) facies, facial and peripheral oedema, macrocephaly, blindness, recurrent bronchopneumonia, deafness and spastic quadriplegia.
In this infantile form of gangliosidosis death occurs within the second year of life. Both sexes affected. Autosomal recessive inheritance.
First described by J. Caffey in 1951. The basic enzyme defect was elucidated by S. Okada and J. S. O’Brien in 1968. Autosomal recessive inheritance.
See also Hurler's disease, or Gargoylism, under Gertrud Hurler, German paediatrician, 1889-1965.
- J. Caffey:
Gargoylism (Hunter-Hurler disease, dysostosis multiplex, lipochondrodystrophy); prenatal and neonatal bone lesions and their early postnatal evolution.
Bulletin of the Hospital for Joint Diseases, New York, 1951, 12: 38-66.
- B. H. Landing, F. N. Silverman, J. M. Craig, M. D. Jacoby, M. E. Lahey, D. L. Chadwick:
Familial neurovisceral lipidosis. An analysis of 8 cases of a syndrome previously reported as «Hurler-Variant», «Pseudo-Hurler disease», and «Tay-Sachs disease with visceral involvement».
American Journal of Diseases of Children, Chicago, 1964, 108: 503-582.
- R. M. Norman, A. H. Tingey, C. G. H. Newman, et al:
Tay-Sachs disease with visceral involvement and its relation to gargoylism.
American Journal of Diseases of Children, Chicago, 1964, 39: 634-640.
- J. S. O’Brien:
In: J. B. Stanbury, J. B. Wyngarden, D. S. Fredrickson et al (editors): The Metabolic Basis of Inherited Disease. McGraw-Hill, New York, 1983.