Infantile nephropathic cystinosis: case series and review of literature

Cystinosis is a rare metabolic disease with an autosomal recessive inheritance. It is characterized by deposition of an extraordinary amount of cystine in different organs of the body. Children with infantile nephropathic cystinosis [INC] present with failure to thrive, polyuria, polydipsia and photophobia in early infancy. They progress to chronic renal failure [CRF] between the ages 5 to 10 years. The diagnosis of cystinosis should be considered in young children with failure to thrive or CRF of unknown etiology. Cysteamine is effective in delaying the progression of this disease. Four patients with INC from two families were followed over the last few years. All of them presented with polyuria, polydipsia, failure to thrive and rickets. Laboratory findings included glucosuria, hypophosphatemia, hypokalemia, proteinuria and later on azotemia. Therapy with cysteamine showed clinical improvement when started early

Gyrate atrophy of the choroid and retina with hyperornithinemia: report of three cases and review of literature

Hyperornithinemia associated with gyrate atrophy of the choroid and retina is a rare, autosomal recessive disorder resulting from a deficiency of the mitochondrial matrix enzyme, ornithine d- aminotransferase [OAT]. This enzyme catalyses the pyridoxal phosphate-dependent transamination of ornithine and glutamic acid. Over 150 biochemically documented cases have been reported out of which one-third are Finnish, We report three cases of this metabolic disorder in one family who was investigated for high myopia associated with degenerative the fundus. The diagnosis was made on clinical, changes in electrophysiological and biochemical features. Since a-ketoglutarate to D'-pyrroline this disorder can present in the pediatric age with 5-carboxylic acid and myopia, children presenting with degenerative myopia need to be investigated for this disorder