Pneumococcal sepsis associated with adrenal apoplexy in a young woman with anorexia nervosa

BACKGROUND A crude rate of mortality of 5% has been quoted for anorexia nervosa in recent studies. Nowadays the mechanism of death is unclear and various authors recommend that any anorexia nervosa death be reported and that, where possible, an autopsy be performed. METHODS In this work we present a case of sudden death in anorexia nervosa with unexpected autopsy findings. A 21-years-old woman with long-standing anorexia nervosa, severely underweight with a body mass index of 14.47 kg/m2, has been taken to the Emergency Department in very critical conditions. Despite the attempts of resuscitation, she died shortly afterwards. Therefore an autopsy has been requested in order to clarify the causes of death. RESULTS The clinical picture, laboratory parameters, histology and microbiological investigations were consistent with pneumococcal sepsis associated adrenal apoplexy. CONCLUSIONS The cause of death in anorexia nervosa cannot reliably be established from antemortem clinical features. All anorexia nervosa deaths should be reported together with description of necropsy. This may lead to advances in the knowledge and treatment practices

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Background: The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods: To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results: Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P < 0.001 and 37 versus 349, P < 0.001, respectively) and 2018 (117 versus 389, P < 0.001 and 37 versus 282, P < 0.001, respectively). Eighty-two among 98 rare disease experts completed the questionnaire. Diagnostic success (95%), access to diagnosis (80%) and follow-up (72%), lack of Personal Protective Equipment (60%), lack of Covid-19 guidelines (50%) and the need for home therapy (78%) were the most important issues raised during Covid-19 outbreak. Conclusions: This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period