Objective-To review the clinical features, treatment, and outcome of children in the UK with Down's syndrome and acute myeloid leukaemia (AML). Design-A retrospective study of 59 children with Down's syndrome and AML presenting between 1987 and 1995. Data were obtained from hospital case notes, trial records, and by questionnaire. Results-The patients were unusually young (median age, 23 months) with a predominance of megakaryoblastic AML. Two of the seven infants who presented with abnormal myelopoesis aged 2 months or younger achieved complete spontaneous remission. Most of the older children with AML (32 of 52) were treated on recognised intensive protocols but 13 received individualised treatment and seven symptomatic treatment alone. Only four received a bone marrow transplant (BMT) in first remission. For the 45 older children who received chemotherapy the overall survival was 55% (median follow up 4.5 years). Patients on individualised protocols had a similar overall survival and toxic death rate but marginally higher relapse rate than those on standard (intensive) protocols. Children with Down's syndrome treated on the national AML 10 trial had a similar overall survival (70% v 59%) at five years to children of comparable age without Down's syndrome: their improved relapse risk (12% v 38%) oVset the slight increase in deaths as a result of treatment toxicity (19% v 11%). Conclusion-Neonates with Down's syndrome and abnormal myelopoesis may achieve spontaneous remission, and older children with Down's syndrome and AML can be treated successfully with intensive chemotherapy, without BMT. (Arch Dis Child 1999;81:32-37)
I n 2013 recessive mutations in DGKE, which encodes diacylglycerol kinase epsilon (DGKE), were first reported to cause atypical hemolytic uremic syndrome (aHUS) 1 and nephrotic syndrome, with glomerular microangiopathy said to resemble membranoproliferative (mesangiocapillary) glomerulonephritis (MPGN) 2 (Online Mendelian Inheritance in Man #615008), though the pathophysiological mechanisms remain poorly understood. aHUS is characterized by a clinical presentation with thrombocytopenia, microangiopathic hemolytic anemia, and organ injury. 3 aHUS is a broad term that has been used to refer to cases of thrombotic microangiopathy (TMA), in
When the University of Oxford developed guidelines for medical students' examination of children, three areas were particularly problematic Medical students are expected to examine patients as an integral part of their clinical education, raising the issue of what should be the proper conduct of students and their teachers, and what guidelines should be provided. These questions, in the specific setting of "intimate" examinations, were raised by the publication in 2003 of a survey of students in the medical school in Bristol.1 This survey found that in a quarter of examinations the consent procedures seemed inadequate. The authors pointed to a potential conflict between the educational needs of the students and the ethical requirements of protecting individual patients, and commentary and correspondence highlighted disagreement over the right balance.2 3 One vital component of medical students' training involves gaining experience in examining children. We report the development in another UK medical school of guidelines for students in examining child patients and highlight three areas that were particularly problematic.
Summary.A case of transient abnormal myelopoiesis in a normal newborn without features of Down syndrome is described. The majority of bone marrow cells analysed belonged to a chromosomally abnormal clone with trisomy for chromosomes 18 and 21. Complex intrachromosomal rearrangements of one chromosome 21, demonstrated by fluorescence in situ hybridization using locus-specific probes, were found in a minor population of the clonal cells. These rearrangements involved loci previously shown to be rearranged in the leukaemic cells from patients with Down syndrome and leukaemia. However, the child's myeloproliferation resolved rapidly, with disappearance of the abnormal clone, and 3·5 years later she remains well.
A 4-year-old severely disabled boy with a congenital myopathy developed profuse diarrhoea with hypernatraemia (plasma Na 157 mmol/l). The initial blood urea, serum creatinine and urine output were within normal limits. Despite corrective measures within a hospital setting, the patient's serum sodium peaked at 202 mmol/l. A high fractional excretion of sodium (FE Na) in the context of dehydration and normal renal function was suggestive of a high sodium load. Subsequent investigations revealed an unusual combination of valproate-induced Fanconi syndrome, nephrogenic diabetes insipidus and excess sodium load. The case illustrates why severe hypernatraemia in children is such a diagnostic challenge.
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