cystinosis/fever

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Intraoperative hyperthermia in a paediatric patient with cystinosis.

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Cystinosis is a rare autosomal recessive inherited disorder of amino acid metabolism. Little is known of the affects of general anaesthesia on the disease (Tobias 1993) and complications relating to anaesthesia have not been previously reported. Infantile cystinosis presents as progressive renal

Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever.

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For women on maintenance dialysis, pregnancy is still uncommon. The outcome of such pregnancies has improved in recent case series. Here, we report in detail the treatment of five successful pregnancies in dialysis patients from our centre. The present case series also includes the first successful

Cystinosis presenting with findings of Bartter syndrome.

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A five-year-old boy was referred to our pediatric clinic for evaluation of failure to thrive, headache, intermittent high fever, restlessness, polyuria, and polydipsia. His weight and height measurements were under the 3rd percentile. Clinical findings consisted of frontal bossing, carious teeth,

Adverse reactions to oral cysteamine use in nephropathic cystinosis.

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Cysteamine (2-aminoethanethiol) has been given orally to 19 patients with nephropathic cystinosis for periods of 8-24 months in doses ranging from 50 to 70 mg base/kg/day. Adverse reactions were noted in 3 patients early in the study when a rapidly increasing dosage schedule was followed. The

A case report: hepatic posttransplant lymphoproliferative disorder in a non-liver transplant patient.

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Posttransplant lymphoproliferative disorder (PTLD) is the most common malignancy in children after solid organ transplantation. We present a patient, who developed Epstein-Barr virus (EBV)-related PTLD in the liver after renal transplantation. A 10-year-old EBV-seronegative boy with cystinosis

Using two smartphones to look for corneal cystine crystals.

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Cystinosis, a rare autosomal recessive lysosomal storage disease, can be difficult to detect. The most common form of the disease is infantile or nephropathic cystinosis. Crystals can accumulate in the eye as early as 1 year of age. Early recognition and prompt investigations prevent further

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