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A large spectrum of ocular pathologic features have been described in infantile cystinosis. Reported symptoms may require corneal transplantation and therapeutic efforts to solubilize cystine crystals with hourly administration of cysteamine (mercaptamine) drops. French Canada has the highest incidence of cystinosis in the world. We studied 18 patients with cystinosis who appeared to have much milder ocular involvement than that in other reported series. No operative interventions were required. Relatively mild photophobia was the most common ocular manifestation of cystinosis.

Constipation was confirmed by history, rectal examination, and rectal manometric studies in 22 of 25 children with enuresis. Treatment of constipation resulted in resolution of enuresis. Uninhibited bladder contractions, observed in enuretic constipated children, were also noted in children with constipation alone, suggesting that constipation is a commonly unrecognized etiologic factor in enuresis.

Eight children with acute leukemia in relapse were hypokalemic during their hospital course. All had accompanying hypophosphatemia, and three had mild metabolic alkalosis. Potassium chloride supplementation in each case resulted in resolution of the electrolyte and acid-base disturbances. These findings were not present in patients with conditions newly diagnosed or those in remission. The pathogenesis of the electrolyte and acidbase disturbances was not evident and was not related to antibiotic or cytotoxic drug therapy, but may have been related to the patients' poor nutritional status. Seven of the eight patients died within six months of the hypokalemic episode. Hypokalemia may be a common accompaniment of terminal leukemia.

A 10-year-old girl was first seen at age 5 years with pneumonia and neutropenia. Since then, she has remained leukopenic, although manifesting a leukocytosis only when she has pulmonary infection. A rapid fall in her peripheral WBC count occurs with initiation of antibiotic therapy. Despite her neutropenia, marked myeloid hyperplasia is evident on marrow smear examination; many cells being hypersegmented with fine intralobular bridging with chromatin strands and cytoplasmic vacuolation. The peripheral WBC response to epinephrine adminstration did not indicate a shift from the circulating to marginal neutrophil pool. Results from a Rebuck skin window test suggested poor neutrophil tissue migration. A defect in granulocyte release from the patient's marrow may explain these bizarre hematologic findings.

Nephropathic cystinosis causes renal death by approximately age 10 years. With increased life span due to kidney transplantation, ten to 25 years of cystine accumulation has resulted in pancreatic complications in individuals with cystinosis. We noted severe hyperglycemia in five posttransplant patients, three of whom remained insulin-dependent diabetics several years after transplant. The clinical findings were not consistent with steroid-dependent or insulin-resistant diabetes. Pancreatic cystine deposition was detected histologically and biochemically on post-mortem examination of two other patients. We conclude that hyperglycemia may be anticipated in the immediate posttransplant period in cystinotic patients and that some patients will require insulin therapy years later. The use of cystine-depleting agents should be considered in posttransplant cystinosis as an attempt to prevent potential damage to the pancreas and other organs from cystine deposition.