The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases.

Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world's population. RDs are often called 'orphan' diseases, since people suffering from them attract little support from national health systems. Aim: The aim of this study is to describe the clinical characteristics of, and the available laboratory examinations for, patients who were hospitalized in a tertiary referral center and finally received a diagnosis associated with a Rare Neurological Disease (RND). Materials and Methods: Patients that were hospitalized in our clinic from 1 January 2014 to 31 March 2022 and were finally diagnosed with an RND were consecutively included. The RND classification was performed according to the ORPHAcode system. Results: A total of 342 out of 11.850 (2.9%) adult patients admitted to our department during this period received a diagnosis associated with an RND. The most common diagnosis (N = 80, 23%) involved an RND presenting with dementia, followed by a motor neuron disease spectrum disorder (N = 64, 18.7%). Family history indicative of an RND was present in only 21 patients (6.1%). Fifty-five (16%) people had previously been misdiagnosed with another neurological condition. The mean time delay between disease onset and diagnosis was 4.24 ± 0.41 years. Conclusions: Our data indicate that a broad spectrum of RNDs may reach a tertiary Neurological Center after a significant delay. Moreover, our data underline the need for a network of reference centers, both at a national and international level, expected to support research on the diagnosis and treatment of RND.

Hereditary diffuse leukoencephalopathy with spheroids mimicking primary progressive aphasia: report of a Greek case.

INTRODUCTION: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult onset leukodystrophy, causally related to mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. We report the unique case of a Greek HDLS patient, demonstrating an unusual phenotype, reminiscent of primary progressive aphasia (PPA). METHODS: A 63-year-old woman was referred with a 2-year history of deteriorating language and memory deficits, apathy, and two generalized tonic-clonic seizures. Neurological and neuropsychological examination revealed prominent aphasia with a pattern consistent with nonfluent variant of PPA. However, brain MRI disclosed confluent T2 and FLAIR white matter hyperintensities with frontal emphasis, whereas genetic testing corroborated the diagnosis of HDLS. DISCUSSION: PPA-like patterns may rarely develop in the context of HDLS. Prompt diagnosis of this leukoencephalopathy is essential, since preliminary data suggest that it could represent a potentially treatable disorder.

Primary health care and general practice attachment: establishing an undergraduate teaching network in rural Greek health centers.

CONTEXT: Exposure of undergraduate medical students to general practice and community healthcare services is common practice in the international medical curricula. Nevertheless, proponents of the hospital and biotechnology based paradigm, which is still dominant within the medical academic environment, question both the scope and the setting of this training procedure. Regarding the latter, the quality of teaching is often questioned in settings such as rural primary health centers, where health professionals have neither incentives nor accredited training skills. Therefore, the success of community based medical education depends substantially on the procedures implemented to involve non-academic staff as clinical teachers. ISSUE: This report describes the steps taken by the Aristotle University of Thessaloniki (AUTH) Medical School to establish and maintain a Rural Primary Health Care (PHC) Teaching Network in order to implement community oriented PHC and GP undergraduate medical education. A multi-professional teachers' network of healthcare staff, working in Rural Primary Health Centers, has been chosen, in order to expose students to the holistic approach of PHC. The enrollment of teachers to the Teaching Network was solely on a voluntary basis. The novelty of this procedure is that each professional is approached personally, instead through the Health Center (HC) that usually offers this service as a package in similar activities. In an attempt to attract health professionals committed to medical education, a self-selection procedure was adopted. Collaboration with the medical school was established but it was characterized by the School's inability to compensate teachers. A series of 'Training the Trainers' seminars were completed during the first implementation period in order to enhance the awareness of health professionals regarding undergraduate teaching in PHC; to present the educational needs of medical students; to expose them to the principles of medical teaching; and to strengthen their communication skills. LESSONS LEARNED: Setting up sustainable community oriented medical education activities in a more or less unfriendly environment is a difficult task that calls for wisely selected functional steps. Pilot educational activities determine the quality of the implemented programs by evaluating difficulties and constraints. Recruiting teachers on a voluntary basis proved to be critical in enhancing the quality of this educational activity, and overcoming distance constraints. The educational activities which were offered created a homogenous group of PHC teachers with explicit educational aims and objectives.