The clinical, anatomical and biochemical variations in this disease are well demonstrated in the family here described. The transmission of the syndrome in this family seems to be by means of an X-linked gene. The presence of lenticular opaci ties in all mothers of affected males may indicate an X-linked, partially dominant, or intermediate transmission pattern. The observed delay in the appearance of hyperaminoaciduria in one youngster is suggestive of a progressive renal tubular lesion.
Get full access to this article
View all access options for this article.
References
1.
Lowe, C.U., Terrey, M. and MacLachlan, E.A. : Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: a clinical entity. Amer. J. Dis. Child.83: 164, 1952.
2.
Richards, W. , Donnell, G.N., Wilson, W.A., Stowens, D. and Perry, T.: The oculo-cerebro-renal syndrome of Lowe . Ibid.109: 185, 1965.
3.
Wilson, W.A. , Richards, W. and Donnell, G.N.: Oculo-cerebro-renal syndrome of Lowe. Arch. Ophthalmol.70: 49, 1963.
Dent, C.E. and Smellie, J.M.: Two children with the oculo-cerebro-renal syndrome of Lowe, Terrey and MacLachlan . Proc. R. Soc. Med.54: 335, 1961.
6.
Terslev, E.: Two cases of aminoaciduria, ocular changes and retarded mental and somatic development (Lowe's syndrome). Acta Paediat.49: 635, 1960.
7.
Illig, R., Dumermuth, G. and Prader, A.: Das oculo-cerebro-renale syndrome (Lowe): Klinische, metabolische und elektroencephalographische befundebei 3 fallen. Helv. Pediatr. Acta18: 173, 1963.
8.
Matsuda, I., Takeda, T., Sugai, M. and Matsuura, N.: Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption. Amer. J. Dis. Child.117: 205, 1969.
Denys, P.P. and Corbeel, L.: Acidose renale, hypokaliemie, nanisme et syndrome oculo-cerebral. Ann. Paediatr.203: 313, 1964.
11.
Oberiter, V.V. , Najman, E.: Das oculo-cerebro-renale syndrom mit homhauttrubung . Ibid.203: 413, 1964.
12.
Svorc, J., Masopust, J., Komarkova, A., Macek, M. and Hyanek, J.: Oculocerebrorenal syndrome in a female child. Amer. J. Dis. Child.114: 186, 1967.
13.
Harris, L.S. , Gitter, K.A., Galin, M.A. and Plechaty, G.P.: Oculo-cerebro-renal syndrome. Br. J. Ophthalmol. 54: 278, 1970.
14.
Sagel, I., Ores, R.O. and Yuceoglu, A.M.: Renal function and morphology in a girl with oculocerebrorenal syndrome. J. Pediatr.77: 124, 1970.
15.
White, H.H. : Separation of amino acids in physiological fluids by two-dimensional thin-layer chromatography. Clin. Chim. Acta21: 297, 1968.
16.
McCance, R.A. , Matheson, W.J., Gresham, G.A. and Elkinton, J.R.: The cerebro-ocular-renal dystrophies: a new variant. Arch. Dis. Child.35: 240, 1960.
17.
Soriano, J.R. , Borchis, H., Stark, H. and Edelman, C.M., Jr.: Proximal tubular acidosis. A defect in bicarbonate reabsorption with normal urinary acidification. Pediatr. Res.1: 81, 1967.
18.
Holmes, L.B. , McGowan, B.L. and Efron, M.L.: Lowe's syndrome: a search for the carrier state. Pediatrics44: 358, 1969.
19.
Matsuda, I. , Sugai, M. and Kajii, T.: Omithine loading test in Lowe's syndrome . J. Pediatr.77: 127, 1970.
20.
Witzleben, C.I., Schoen, E.J., Tu, W.H. and McDonald, L.W.: Progressive morphologic renal changes in the oculo-cerebro-renal syndrome of Lowe. Amer. J. Med.44: 319, 1968.
21.
Schoen, E.J. and Young, G.: "Lowe's syndrome"; abnormalities in renal tubular function in combination with other congenital defects. Ibid.27: 781, 1959.
