RESUMO
We describe a case of neurotrophic keratitis in association with dihydroxypyrimidine dehydrogenase (DHPD) deficiency. Ocular manifestations in patients with DHPD are rare and neurotrophic keratitis has never been reported before. A six-year-old boy who was a known case of DHPD deficiency and born of a consanguineous marriage presented to our clinic with non-healing corneal ulcers in both eyes. Reduced corneal sensations were detected and the patient was started on lubricating eye drops. The patient continues to be on lubricant eye drops and there has been no recurrence of the disease.
Assuntos
Criança , Consanguinidade , Córnea/inervação , Opacidade da Córnea/enzimologia , Di-Hidrouracila Desidrogenase (NADP)/deficiência , Humanos , Ceratite/enzimologia , Masculino , Erros Inatos do Metabolismo da Purina-Pirimidina/enzimologia , Acuidade VisualRESUMO
Blood Histaminase estimations were done in 42 cases of phlyctenulosis and 25 normal subjects. Significantly higher level of blood Histaminase was found in patients of phlyctenulosis, which may be a consequence of its induction secondary to increased release of histamine in the early phase of disease.