Search

Isolated sulfite oxidase deficiency is a rare autosomal recessive inborn error of sulfur metabolism. Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and S -sulfocysteine. Missed diagnosis is not unusual because of variability in the sensitivity of the urinary sulfite and thiosulfate screening test. We present clinical, biochemical, and molecular data on two unrelated patients with isolated sulfite oxidase deficiency. The two patients belong to an Indigenous genetic isolate in Manitoba, Canada. Both patients (one male and one female, both now deceased) developed neonatal seizures and demonstrated progressive neurodevelopmental delay. Based on increased urinary excretion of sulfite, thiosulfate, and S -sulfocysteine and normal serum uric acid levels, sulfite oxidase deficiency was suspected. Both patients have a homozygous 4-bp deletion, 1347-1350delTTGT in the sulfite oxidase gene ( SUOX ), predicting a premature termination of the sulfite oxidase protein leading to absence of the carboxy-terminal third portion of the protein. This domain contains most of the contact sites essential for enzyme dimerization. This deletion mutation resulted in sulfite oxidase deficiency with early-onset severe clinical phenotype., (© 2020 Mhanni et al.; Published by Cold Spring Harbor Laboratory Press.)

Candida albicans is found frequently as a commensal organism in the gastrointestinal tract. Despite this, it is rarely found in pancreatic abscesses, there being only a few cases in the literature and in most of these cases the significance of Candida spp. as a pathogen was not initially recognized at the time of diagnosis. In most of the earlier reported pancreatitis associated with candida, C. albicans was the commonest isolate. We report the case of a patient in whom computed tomography was used initially to diagnose a pancreatic abscess, aspiration of which showed growth of Candida tropicalis and Escherichia coli on culture. The patient was started on amphotericin B and imipenem, but the condition of the patient deteriorated, for which the patient underwent surgical necrosectomy and continued treatment with imipenem and amphotericin B led to the satisfactory recovery of the patient.