Journal of child neurology
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Case Reports
Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
The neuronal ceroid-lipofuscinoses are a group of diseases that are characterized by progressive neuroretinal symptomatology, progressive accumulation of autofluorescing waxy lipopigments (ceroid-lipofuscin) within the brain and other tissues, and cerebral atrophy. Juvenile neuronal ceroid-lipofuscinosis, or Batten disease, is a form of neuronal ceroid-lipofuscinosis that is characterized by onset of neuroretinal symptoms between 4 and 10 years. Juvenile neuronal ceroid-lipofuscinosis is the most common type of neuronal ceroid-lipofuscinosis in the United States and Europe and is inherited as an autosomal recessive genetic disorder. ⋯ Although skin and conjunctival biopsies did not show classic fingerprint cytosomes by electron microscopic study, which characterize juvenile neuronal ceroid-lipofuscinosis, a diagnosis of an atypical form of juvenile neuronal ceroid-lipofuscinosis was suspected on the basis of the clinical picture. The retinal abnormalities, surprisingly, were those believed to be diagnostic of juvenile-onset neuronal ceroid-lipofuscinosis, or Batten disease. Subsequently, a heterozygous mutation for the common 1.02 kb deletion characteristic of juvenile neuronal ceroid-lipofuscinosis was established.
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Practice Guideline Guideline
Guidelines for resuscitation in the delivery room of extremely preterm infants.
Ethical problems related to intensive care of extremely preterm newborns of < or = 25 weeks' gestational age and at risk of disability have been extensively debated. The Bioethical Committee of the Department of Paediatrics of the University Hospital of Padua organized and started a multidisciplinary group to release guidelines to help staff facing problems related to prematurity. ⋯ If the clinical age and anamnestic gestational age are different, we proceed according to the more advanced one. The importance of providing parents with correct information and the role of comfort care are outlined.
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Current workforce projections estimate that there is a shortage of child neurologists. We surveyed child neurology residents to learn more about the entry point for a career in child neurology: what attracts current residents to the field of child neurology and what the future career plans of child neurology residents are. Most respondents (52%) were exposed to child neurology for the first time in their third or fourth year of medical school, with 41% reporting that they chose the specialty at that time. ⋯ Respondents predict that they will spend less time on patient care and more time on research than current practicing child neurologists report. When asked about what could improve the attractiveness of the field, residents responded that medical students should get increased and earlier exposure to child neurology. Given the declining number of individuals pursuing a career in child neurology and that current residents predict that they will spend less time seeing patients than their predecessors do, understanding how to attract more candidates to child neurology will be essential to alleviate future shortages in child neurology.
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Neonatal-type nonketotic hyperglycinemia treatment remains unsatisfactory, even if started early. A review of six patients who underwent treatment for neonatal-type nonketotic hyperglycinemia in our hospital is presented. All patients were treated with a standardized protocol. ⋯ No resuscitation was attempted in accordance with the family's wish after genetic counseling. The prognosis of neonatal nonketotic hyperglycinemia remains poor with current treatment. Genetic counseling helps parents cope with this devastating genetic disease.
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The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 childhood cases of acute flaccid paralysis seen between January 1989 and December 1999 at the Hospital Escuela Materno-Infantil in Tegucigalpa, Honduras. Of these cases with acute flaccid paralysis, 394 (72.2%) were diagnosed with Guillain-Barré syndrome. ⋯ The Honduran pediatric Guillain-Barré syndrome population had an increased mortality rate. Guillain-Barré syndrome has become the leading cause of childhood paralysis in Honduras. A better understanding of the population at highest risk and opportunities for earlier intervention with more effective therapeutic modalities may permit reducing the mortality among Honduran children who develop Guillain-Barré syndrome.