Oculocerebrorenal dystrophy syndrome characterised by severe psychomotor retardation with growth and mental retardation/deterioration, hyperactivity with bizarre choreoathetoid movements, and screaming. Affected persons have small eyes, congenital glaucoma, congenital bilateral cataracts, strabismus, abnormal enlargement of the eyes, muscular hypotonia, loss of reflexes. There is renal tubular dysfunction which causes proteinuria, amine aciduria and acidosis. Blindness; no deafness; Affects almost exclusively males. Symptoms apparent in very early infancy. X-linked familial syndrome transmitted by heterozygous female.
Bickel, see Fanconi-Bickel syndrome, under Guido Fanconi, Swiss paediatrician, 1892-1979.
- C.U. Lowe, M. Terrey, E. A. MacLachlan:
Organic aciduria, decreased renal ammoniac production, hydrophthalmos, and mental retardation. A distinct clinical entity.
American Journal of Diseases of Children, Chicago, 1952, 83: 164-184.