A rare chest tumor in a 7-year old girl with a neurodegenerative disease.

We report the case of a 7-year-old girl with a history of San Filippo disease who presented with gingivitis and painful chest tumefaction. Microbiology of this tumefaction identified Aggregatibacter actinomycetemcomitans (AA), a slowly growing, commensal, Gram negative bacillus that is a very unusual cause of thoracic infection. We discuss this case in the light of available literature of pediatric cases of AA thoracic infection. Conclusion: a tumor-like chest mass in a patient with multiple disabilities should evoke an invasive AA infection.

Non accidental repeated lithium poisoning in a child: The role of hair analysis.

Non accidental intoxication due to child abuse is rare and its frequency is likely underestimated because it is difficult to diagnose. Here, we report a case of voluntary repeated exposure to lithium in an infant, for whom the clinical manifestations were convulsions. Toxicological analysis was very helpful for documenting lithium exposure during the assumed period of time. Interpreting the results of hair analysis, a simple and minimally invasive examination, is tricky at this age, but it can facilitate the differentiation of acute versus chronic exposure. Although infrequent and underestimated, lithium should be considered as a cause of intoxication in a previously healthy child with acute seizure.

Clinical risk in rehabilitation: an exploratory investigation in Campania region.

BACKGROUND: Clinical risk management is a comprehensive programme that encompasses all the measures implemented to improve the quality of the healthcare service and ensure patient safety, which is based on learning through error. This process is intended to bring about ongoing improvements in clinical practice, starting with risk identification, before moving on to risk assessment and analysis, in order to reduce risks where possible. When clinical risk management is applied in rehabilitation, the first step involves identifying errors by assessing adverse events, which are considered to indicate the existing risk. Our work aims to explore the characteristics of the clinical risk in rehabilitation so as to learn more about its extent, its components, and its implications for the user. METHODS: Our study involved numerous workers operating in four different branches of rehabilitation - speech therapy, physiotherapy, psychomotor education and occupational therapy - at forty-nine private rehabilitation centres in the province of Naples, an area that has not been studied before. A questionnaire was drafted regarding the main errors committed in the rehabilitation sector. It was then distributed and collected in again, after which the results were analysed and outcomes measured. Out of a total of 556 questionnaires distributed, 493 were returned (88.6% response rate.). RESULTS: The study revealed that for all the rehabilitation branches considered, the macro-category of errors linked to technical and professional aspects accounted for the highest percentage of the total errors (39%). In this study, the most frequent errors linked to technical and professional aspects were: wrong dose errors, treatment planning errors and functional assessment errors. CONCLUSIONS: There is an evident need to take action in order to manage the clinical risk in rehabilitation: to promote a concept of errors as opportunities for learning and improvement; to maintain the focus on both individual responsibility and on any systemic failings; to share fundamental values such as transparency, collaboration between workers, communication with patients, and a commitment to ongoing improvements in healthcare quality.

[Postinfectious family case of acute necrotizing encephalopathy caused by RANBP2 gene mutation]. / Un cas familial d'encéphalopathie nécrosante aiguë post-infectieuse associé à une mutation du gène RANBP2.

UNLABELLED: Acute necrotizing encephalopathy is a rare neurologic disease most often triggered by a febrile viral event affecting an otherwise healthy infant. The clinical course is characterized by rapid deterioration of the neurological condition that often leads to coma and requires intensive care. The diagnosis is usually suggested by MRI, which shows symmetrical and focal necrotic lesions of thalami. Acute necrotizing encephalopathy has been linked in recent studies to an autosomal-dominant mutation of the gene for the protein RAN-binding protein 2. CASE REPORT: We report three cases in siblings of Tunisian origin. Two of them presented with acute necrotizing encephalopathy at the age of 9 months in the immediate aftermath of a viral infection. The molecular study conducted in the family showed that both patients and their mother were carriers of the missense mutation gene RAN-binding protein 2. COMMENTS: Although the role of Ran BP2 protein is incompletely known, mutation of the RANBP2 gene causes rare, reversible central neurologic disorders. Suspected diagnosis is facilitated by MRI, which shows specific lesions of multifocal, symmetric involvement of the thalami, brainstem tegmentum, supratentorial white matter, and cerebellum. Due to the low frequency of the disease and its non-specific clinical presentation, the diagnosis of acute necrotizing encephalopathy is a major challenge, while preventative measures can be proposed in familial mutation.