The Cerebro-ocular-renal Dystrophies: a new variant

Congenital Cataracts, Renal Tubular Necrosis and Encephalopathy in Two Sisters

“…There is no greater resemblance between the present cases and those mentioned above as 'atypical oculocerebrorenal dystrophy'. The cases of McCance et al (1960) showed, like the present ones, cerebellar involvement, but the renal and ocular findings were quite different.…”

The Renal Excretion of Hydrogen Ions in Infants and Children

“…Our lowest figure for this percentage is 32 7 in infants and 37 in children. McCance, Matheson, Gresham, and Elkinton (1960) consider that figures below 300% indicate impaired ammonia production. Two of the present subjects whose ratio of ammonia to urine pH was below the normal limits for adults (as shown in Fig.…”

“…Unfortunately as the technique and methods of investigation among the different authors have differed, the results may not be entirely comparable. Thus, Gordon, McNamara, andBenjamin (1948) andMcCance et al (1960) analysed 24-hour urine specimens, while Fomon, Harris, and Jensen (1959) used 12-hour night specimens of urine. The latter authors analysed venous blood and this gave higher values of CO2 content in their series than in ours.…”

Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones

“…Cerebellar dysfunction, nystagmus, intention tremor (McCance et al, 1960), and rachitic features have also been recorded in this clinical entity. However, the absence of the following characteristic features of this syndrome does not favour the diagnosis of Lowe syndrome in our cases: (1) hypotonia and areflexia (Chutorian and Rowland, 1966); (2) renal tubular acidosis (Sagel et al, 1970); (3) aminoaciduria, involving most of the common amino-acids (Schoen and Young, 1959).…”