RESUMO
Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninaemia (HPA) and usually leads to progressive neurological deterioration despite early dietary control of plasma phenylalanine concentrations. Dihydropteridine reductase (DHPR) deficiency is the most severe cause with respect to a fatal outcome. We report a 7-year-old girl with HPA diagnosed on neonatal Guthrie screening who at the age of 6 months had cytotoxic therapy for an adrenal neuroblastoma which secreted catecholamines. When 4 years old she was found to have DHPR deficiency. Although developmentally retarded and microcephalic she has failed to develop the florid neurological features often associated with the condition.
Assuntos
Neoplasias das Glândulas Suprarrenais/complicações , Neuroblastoma/complicações , Fenilcetonúrias , Neoplasias das Glândulas Suprarrenais/metabolismo , Biopterinas/análogos & derivados , Biopterinas/biossíntese , Catecolaminas/biossíntese , Criança , Coenzimas/biossíntese , Feminino , Humanos , Neuroblastoma/metabolismo , Fenilalanina/metabolismo , Serotonina/metabolismoRESUMO
Severe intractable diarrhoea which required prolonged parenteral nutrition is reported in a child with acute leukaemia. The enteropathy is likely to have been the consequence of continuing cytotoxic therapy during an episode of acute infective diarrhoea. It is postulated that the inhibition of crypt mitotic activity prevented the rapid recovery of small intestinal mucosa normally seen after viral infection and resulted in persisting small intestinal dysfunction. The inter-relationship between viral and cytoxic-induced enterocyte damage is discussed and the risks of continuing therapy under such conditions is considered.
Assuntos
Diarreia/induzido quimicamente , Enterite/complicações , Metotrexato/efeitos adversos , Pré-Escolar , Enterite/microbiologia , Feminino , Humanos , Leucemia Linfoide/complicações , Leucemia Linfoide/tratamento farmacológico , Metotrexato/uso terapêutico , Viroses/complicaçõesRESUMO
The lysosomal enzymes beta-glucuronidase (EC 3.2.1.31) and N-acetyl-beta-D-glucosaminidase (EC 3.2.1.30) were estimated by biochemical and cytochemical means in the circulating lymphocytes of 20 control subjects, 19 cases of B cell and one case of T cell chronic lymphocytic leukaemia. Significantly lower levels of activity were observed both biochemically and cytochemically for each enzyme in B cell chronic lymphocytic leukaemia lymphocytes, whereas the values obtained for the T cell chronic lymphocytic leukaemic patient fell within the normal range. The absence of staining reaction for both enzymes in the majority of B cell chronic lymphocytic leukemia lymphocytes contrasted with the uniform pattern of polar positivity obtained in T cell chronic lymphocytic leukaemia lymphocytes.
