A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation.

Background: Fabry disease is caused by an X-linked recessive inborn error of glycosphingolipid metabolism with deficient activity of a lysosomal enzyme, alpha-galactosidase A (α-GalA).

Case Presentation: A 46 year-old man with progressive kidney disease showed on kidney biopsy electron microscopic evidence of Fabry disease. The patient had no systemic manifestations of Fabry disease, despite residual α-GalA activity, therefore genetic testing was done by direct DNA sequencing, demonstrating a new GAL A gene mutation (C174G-exon 3).

Cytomegalovirus-induced haemorrhagic cystitis in a patient with neurogenic bladder.

We report a case of severe cytomegalovirus induced haemorrhagic cystitis associated with neurogenic urinary bladder in a patient suffering from anaplastic spinal ependymoma. The diagnosis was established by bladder biopsy and immunohistochemical study. Haematuria resolved after ganciclovir therapy.