Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Administration of vinca alkaloids is considered contraindicated in CMT because of the risk of life threatening acute neuropathy. We describe a 5-year-old patient with a family history of X-linked CMT1 who presented with Wilms tumour. Despite confirmation of a connexin 32 point mutation, the patient was treated with 40.5 mg/m(2) of vincristine with no clinical evidence of drug-related neuropathy. This case describes vincristine being safely administered to a patient with molecularly proven type CMT 1X, but in type 1A CMT vincristine is still contraindicated. An extensive literature review revealed no other series of cases in which vincristine administration in molecularly proven CMT 1X had been described. CMT should be excluded in any patient who develops a profound, acute neuropathy following vincristine, as many patients in the cases reviewed were asymptomatic prior to treatment.
In spite of recent advances in perinatal care and an increase in survival of extremely preterm infants over the last few years, there remains a lack of consensus about practical aspects of resuscitation of extremely preterm infants born before 27 weeks' gestation. With this in the background, the working group of one of the Perinatal Networks in London, UK, set out to conduct a survey to explore the opinions of the doctors and nurses on resuscitation practices of infants born before 27 weeks' gestation, with the aim of developing consensus guidelines. The working group emailed a questionnaire to all neonatal units within the Perinatal Network to seek the views of paediatric medical and nursing staff on resuscitation of infants born at <27 weeks' gestation. The questionnaire was returned anonymously by post. The responses highlighted the difference of opinion that currently exists amongst the clinicians and nurses across the world around the resuscitation practices of extremely preterm infants; yet at the same time, there seemed to be some consensus on certain issues. Based on the survey (questionnaire) results and already existing literature, the working group of the North West London Perinatal Network (NWLPN) produced and implemented specific consensus guidelines on practical aspects of resuscitation for infants born before 27 weeks' gestation for the network. The network plans to audit these guidelines in future and also produce a parent information leaflet explaining the relevance of these guidelines.
An asymptomatic 8-week-old male infant was referred for assessment. A prenatal ultrasound had been suggestive of a congenital cystic adenomatoid malformation (CCAM). Following delivery, he had a plain chest radiograph ( fig. 1) and went on to have a computed tomography (CT) scan of the thorax ( fig. 2), which showed an extrapulmonary mass close to the vertebral column. He proceeded to have magnetic resonance imaging of the thorax to look for intraspinal extension. The appearances were not anticipated, in that the lesion appeared to be intrapulmonary with no extension into the mediastinum, spinal canal or chest wall. The diaphragm was reported as being intact and separating the lesion from the abdominal cavity. There were no abnormal vessels reported. These features were in keeping with an intrapulmonary cystic lesion and the infant was referred for a surgical opinion. As the infant remained well, surgery was deferred until the child was 1-yr old.A routine pre-operative CT scan ( fig. 3) was performed on the day before the planned surgery followed by a barium swallow (fig. 4)
We describe an ongoing quality improvement project focusing on paediatric prescribing and medication safety for medical, surgical and oncology patients in a district general hospital. The project is called STAMP-Safe Treatment and Administration of Medicine in Paediatrics. The project has been running continuously for 24 months. No one factor has been identified to sustain a reduction in prescribing error rates. However, we have improved the quality and frequency of feedback to prescribers following errors. We believe that this ongoing project is changing the local prescribing culture, and with further Plan-Do-Study-Act cycles we hope to see improvement in prescribing error rates.
BackgroundThis is the first documented case of a patient with hemophagocytic lymphohistiocytosis in association with coeliac disease. There was complete clinical and biochemical remission of hemophagocytic lymphohistiocytosis following the introduction of a gluten-free diet.Case presentationA 7-year-old white girl presented with fevers and maculopapular rash with a recent history of tonsillitis. Blood tests revealed thrombocytopenia (64×109/L), anemia (80 g/L), hypofibrinogenemia (1 g/L), and hyperferritinemia (71,378 μg/L). A bone marrow revealed evidence of hemophagocytosis, but the results of tests for the genetic or familial-associated hemophagocytic lymphohistiocytosis syndromes were negative. The results of screening tests for known secondary causes were negative. She was diagnosed as having hemophagocytic lymphohistiocytosis and following treatment with the hemophagocytic lymphohistiocytosis-2004 protocol these symptoms, in addition to the biochemical and hematological markers, completely resolved.She presented again 10 months later with fever, rash, and biochemical abnormalities suggestive of hemophagocytic lymphohistiocytosis. Her tissue transglutaminase was markedly raised and the results of blood tests revealed a genetic susceptibly to coeliac disease in the form of HLA-DQ2 positivity. She commenced a gluten-free diet and there was complete symptomatic and biochemical response without any further chemotherapy. She had further episodic rashes, each associated with the accidental intake of gluten.ConclusionsThis is to the best of our knowledge the first documented case of hemophagocytic lymphohistiocytosis in association with coeliac disease. No other secondary cause found; she initially responded to chemoimmunotherapy specific for hemophagocytic lymphohistiocytosis but relapsed within a few months of cessation of treatment and then achieved complete remission on gluten withdrawal alone.
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