Dr. Suvarna Magar, Dr. Avinash Sangle, Dr. Anjali Kale, Dr. Madhuri Engade, Dr. Varsha Vaidya, Dr. Madhavi Shelke, Dr. Viranchi Vaidya
Abstract: Objective: To study the demographic features, clinical characteristics and diagnostic evaluation, treatment availability for lysosomal storage diseases at Paediatric genetic clinic, Aurangabad. Design: Descriptive study. Methods: Retrospective analysis of case records of patients attending Paediatric Genetic clinic, for last 15 months i.e. March 2018 to May2019, was undertaken. Out of 250 patients attending genetic OPD for various genetic Diseases, children with global developmental delay and /or Neuro-regression associated with hepatosplenomegaly were evaluated for various lysosomal storage diseases. The age at first suspicion, diagnostic work up and time required for final diagnosis by enzyme assay and/ or mutation analysis was considered. Results: A total 250 patients were referred to Genetic clinic from March 2018 to May 2019. Out of which lysosomal storage Diseases were suspected in 25 patients (10 %). Out of which diagnostic work up could be completed in 18patients (7.2 %). Commonest clinical features were growth failure, developmental delay, short stature, and neuro-regression. History of Consanguinity was present in88 % families. Enzyme replacement therapy is being given to 1 patient of Hurler Disease and he is showing gradual improvement in symptoms. One of the parents opted for prenatal testing and fetus was detected to be carrier for neuronal ceroid lipofuscinosis. Conclusion: Lysosomal storage diseases constitute one of the common disease group presenting to paediatric Genetic Clinic. In spite of sufficient awareness and Indian Literature, the diagnosis is delayed. Various enzyme replacement therapies are available for few of the LSDs with raising hopes of treatment in future. Definitive diagnosis is must, so that conditions which are treatable will have hopes of treatment. By definitive molecular and/or enzyme assay diagnosis, we can give opportunity to couples to decide about reproductive choices of future pregnancies.
Keywords: Lysosomal storage disorders, India, Clinical features, Management, Mutation analysis