Early diagnosis and new treatments

Pubblicazione conseguente al XXI Corso di aggiornamento in Neurologia infantile (Parma, marzo 2009)
Editors: R. Parini, G. Andria
London-Paris, John Libbey Eurotext Ltd, 2010, pp.186

The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysosomal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysosomal storage diseases, other therapeutic approaches are being developed that are based on different principles. The awareness that the efficacy of treatment is greater if administered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheumatologists, orthopaedists, and other professionals who come into early contact with children with LSDs. The possibility of including some of these disorders in routine neonatal screening is also a matter of discussion. This volume provides an updated overview of epidemiologic, biochemical, genetic, pathogenetic, and clinical aspects of these disorders and outlines the various treatment options currently available for the LSDs. The need for patients with rare diseases like LSDs to be followed-up in a specialized centre is emphasized in view of the many kinds of multidisciplinary treatment that are needed to improve the quality of life and survival of these children.

Contents
General aspects
1) Lysosomal storage disorders: commonalities and differences – L. Astarita, M. Sibilio and G. Andria
2) Lysosomal storage disorders—epidemiology, biochemistry, and genetic: how to read and interpret biochemical and molecular tests – M. Filocamo and A. Morrone
3) Organizational and ethical aspects of newborn screening for lysosomal storage disease – C. Corbetta and L. Alberti
4) Pathophysiologic aspects of lysosomal storage disorders – C.M. Bellettato, R. Tomanin and M. Scarpa
Clinical presentations in detail: Mucopolysaccharidoses and Anderson-Fabry disease
5) Early signs and symptoms for the timely diagnosis of mucopolysaccharidosis – M.L. Melzi, F. Furlan and R. Parini
6) Anderson-Fabry disease in children – R. Parini and F. Santus
Mucopolysaccharidoses from the specialists’ point of view
7) Epilepsy in mucopolysaccharidosis: clinical features and outcome – D. Grioni, M. Contri, F. Furlan, M. Rigoldi, A. Rovelli, R. Parini
8) Psychological assessment and support for patients with mucopolysaccharidosis – M. Marini and A. Gamba
9) Mucopolysaccharidosis: radiologic findings – M. Grimaldi, D. Di Marco, P. Remida
10) Anaesthesia for children with mucopolysaccharidosis – P. Ingelmo and E. Sahillioglu
11) Neurosurgical complications and their management in mucopolysaccharidosis – C. Giussani, S. Miori and E.P. Sganzerla
Specific treatments for lysosomal storage diseases
12) Enzyme replacement therapy in lysosomal storage disorders: clinical effects and limitations – M. Beck
13) Gaucher disease: clinical follow-up and management with individualized treatment – E. Cassinerio, I. Motta, M.D. Cappellini
14) Enzyme replacement therapy in glycogenosis type II – G. Ciana and B. Bembi
15) Haematopoietic stem cell transplantation for lysosomal storage diseases – G. Lucchini, P. Corti, A. Rovelli
16) Allogeneic stem cell transplantation for Hurler syndrome: graft outcome and long-term clinical outcomes – J.J. Boelens and M. Aldenhoven
17) Hematopoietic stem cell gene therapy for metachromatic leukodystrophy – A. Biffi and L. Naldini