Hereditary Hematuria Associated with Mental Retardation, Convulsions, Abnormal EEG and Ocular Abnormalities

Abstract

A case of a 2-year-old patient was presented with hereditary hematuria associated with mental retardation (IQ<2d), convulsions, abnormal EEG and ocular abnormalities (rotatory nystagmus, strabismus, excessive myopia and moderately advanced visual cell degeneration). She was 5 years of age at the time of the present report.
The parents were first cousins and had 4 children, one of whom (the second brother) had symptoms similar to the present patient, showing hematuria, mental retardation and convulsions. There were no histories of deafness or of death from renal failure in her pedigree.
Biochemical studies, endocrine studies, chromosome analysis and renal function tests of the patient were all within normal limits. Urinalysis for 3 years showed slight positive or negative reaction for protein and always revealed numerous red cells in the sediments. Histological findings of the kidney obtained at two biopsies with an interval of one year were characterized by hyalinization or fetal appearance of the glomeruli in a small number, slight cell infiltration and red cell casts in some tubules just as seen in Alport's syndrome in childhood, and electron microscopical finding of the kidney was normal or showed a slight thickening of the basement membrane.
It is likely that in our own case a new type of hereditary hematuria is discovered, which might be caused by a genetically controlled defect in an enzyme system common to portions of the renal, cerebral and ocular tissues, although the exact nature of the defect was not clarified.