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Abstract: Background: We report a boy with an unusually late presentation of Farber lipogranulomatosis type l. Case study: The first symptoms appeared at the end of the first year of life in the form of joint swelling; other symptoms such as cherry-red spot, hoarseness, subcutaneous nodules appeared much later. The history of the disease, from the first symptoms till his early death, lasted 26.5 months. The neuronal dysfunction accompanied by the rapid neurological deterioration with seizures and myoclonias, rather than the general dystrophy, seemed to limit the duration of disease in our patient and provoked his early death. Diagnosis was confirmed by analysis of ceramide metabolism in cultured fibroblasts and of the ASAH1 gene, which indicated homozygosity for a novel point mutation. Conclusion: The deficient activity of acid ceramidase correlated well with poor prognosis of the disease in our boy, in contrast to late appearance of dermal nodules and the subsequent severe clinical course with fatal outcome. Farber lipogranulomatosis should be suspected in children with joint swelling as the first and only symptom of disease. In order to advance our knowledge towards establishing genotype–phenotype correlations in Farber’s disease, detailed analysis of the ASAH1 gene is needed. [Copyright &y& Elsevier]

Objective Inherited Neurometabolic Diseases (InNerMeD) is the first European Network on inherited neurometabolic diseases (iNMDs) with the aim to create a multimedial network of information targeted on iNMDs based on the collection and exchange of validated information among scientific communities, health professionals, patients, patient associations and relevant stakeholders. Methods Coordinator is Brains for Brain Foundation (Italy), and partners are Gianni Benzi, Pharmacological Reserach Foundation (Italy), Region Hovedstaden, Department of Clinical Genetics (Denmark), University of Zagreb, School of Medicine, (Croatia), Hospital Sant Joan de Deu (Spain) including collaborating partners. Since iNMDs represent an important group of rare diseases, the network will increase the knowledge on iNMDs, speed up the timely and precise identification of patients, who may benefit of the available both experimental and marketed treatments and also favour biomedical research. Results The objectives are: a) to create a critical mass of multispecialist knowledge to be disseminated and increase awareness on iNMDs to anticipate diagnosis and supply an adequate therapy; b) to straighten research capacities; c) to provide practical support for sharing experiences at global levels; d) to disseminate knowledge on clinical and experimental approaches for diagnosis and treatment. It is expected that the network will provide: a) a critical mass of competences instead of disperse expertise; b) validated customized information about iNMDs; c) stimulation of innovative research projects; d) identification of group of patients to be included into biomedical and clinical trials; e) translation of scientific breakthroughts into clinical practise; f) generation of social benefit for establishing a standard of care for patients suffers from iNMDs across Europe. Conclusion Information Network is funded by the Executive Agency for Health and Consumers under the Second Health Programme of the European Commission (Grant Agreement no. 201212121). For further information visit: http://www.innermed.eu/index.php/cms/en/home . For join us complete the questionnaire: http://survey.innermed.eu/index.php/survey/index/sid/161692/newtest/Y/ [ABSTRACT FROM AUTHOR]