Isabelle Windheuser is a 5th year medical student at the University of Bonn in Germany. She is currently working in the Center for Rare Diseases (ZSEB) at the University Hospital in Bonn, where the medical students act as an interface between the patients and the ZSEB physicians. The student is expected to generate an epicrisis and to consider diverse differential diagnosis in order to write a final report with recommendations to the patient
A rare disease is defined as a disease that affects less than 1 in 2,000 people in Europe. In Germany about four million individuals have a rare disease, which therefore represents a major public health issue, especially for the patients without a diagnosis. The demand for experts in rare diseases is correspondingly large, with insufficient points of contact for affected patients. To address this unmet need and improve the management of patients without diagnosis, the Center for Rare Diseases (ZSEB) at the University Hospital of Bonn founded a subunit, the “Interdisciplinary Competence Unit for Patients without Diagnosis” (InterPoD) in 2012. Since 2014 we have investigated the medical history of 242 patients with no established diagnosis and collected detailed information about their somatic, psychological, and social aspects of health by using a standardized questionnaire. The aim of the study is to characterize the patients’ collective data and retrospectively evaluating their data to create a patient profile. We determined the number and duration of medical assessments and investigations of patients without diagnosis before our evaluation through the InterPoD. We have also focused on determining the common accompanying symptoms or illnesses and have further investigated the most affected organ systems. Furthermore, we discuss how an unconfirmed diagnosis of a disease affects the patients’ social wellbeing and daily life with regard to symptoms of Depressive Disorders and anxiety syndromes.
Dr Godwin Oligbu is a competent and experienced paediatrician with an extensive clinical background in general paediatrics. He is very dedicated to a career within paediatric with an interest in paediatric infectious diseases and child public health. Over the last year has gained excellent experience in management of complex paediatric cases in St George’s hospital London and Queen Elizabeth hospital, London. He is involved in a number of research projects and currently working on an Enhanced National Surveillance of Pneumococcal Meningitis in England and Wales.
Background Sclerosing angiomatoid nodular transformation (SANT) is a rare and benign primary vascular lesion of the spleen with unknown aetiology and pathogenesis its diagnosis is often incidental and is characterised by numerous angiomatoid nodules, in fibrous tissue, within the red pulp of the spleen. The neoplasm has shown a predilection for adult females with cases in the paediatric population being exceptionally rare. Case summary We present an asymptomatic 14-year-old boy with incidental examination findings of scanty bruising and massive splenomegaly. Blood tests revealed pancytopenia with normal coagulation studies, raised C-reactive protein however normal erythrocyte sedimentation rate. Abdominal CT and ultrasound scans showed increasing splenomegaly (the largest size being 27cm) with one discrete focal lesion, small perihilar splenic lymph nodes and an enlarged splenic vein (Figure 1). The patient underwent splenectomy for diagnostic and therapeutic purposes with good long-term outcome and normalisation of the full blood count. Subsequent histological analysis revealed a prominent, nodular, 15mm mass with slit-like or irregular shaped vascular spaces that was typical of SANT. Immunohistochemistry was positive for CD8, CD31 and CD34, which was in keeping with results found in previous cases. We also found D240 to be positive. The boy was also diagnosed with congenital retinoschisis and Scheuermann's disease of the spine. Conclusions & Significance We identify common features, in the presentation, diagnosis and management of this rare condition in paediatrics, as well as documenting our own unique findings including normal erythrocyte sedimentation rate and D240 immunotyping. Although uncommon, SANT should be included in the differential diagnosis of children presenting with splenomegaly and a well circumscribed, hypovascular lesion on CT imaging. Long term follow up of this cohort of adult and paediatric patients is required to better understand the epidemiology of this condition