Congenital Nephropathy Associated with Hearing Loss, Ocular Abnormalities, Mental Retardation, Convulsions and Abnormal E.E.G

Abstract

Probably a new type of congenital nephropathy associated with hearing loss, ocular abnormalities such as cataracts, excessive myopia, strabismus, chorioretinal degeneration, mental retardation, convulsions and abnormal E.E.G., were observed in a 12-year-old male patient. The patient not only had symptoms resembling familial juvenile nephronophthisis such as polyuria and polydipsia since early childhood, growth retardation, choreoretinal degeneration, anemia and azotemia with few abnormalities of urinalysis, but also showed ocular defects and nerve deafness which have been very often observed in Alpert's syndrome. Furthermore, there were mental retardation, convulsions and abnormal E. E. G. which have not been recognized in either of Alport's syndrome and familial juvenile nephronophthisis. Histological findings of the kidney obtained by open biopsy revealed various changes of the glomeruli such as thickening of mesangium, increased cellularity, hyalinization, and interstitial and periglomerular fibrosis in some parts. These histological findings were entirely different from those of familial juvenile nephronophthisis and somewhat resembled those of “l'hypoplasie rénal bilatérale avec oligomeganephronie” which was recently described by Royer, Habib and Leclerc. © 1969, Tohoku University Medical Press. All rights reserved.