Pattern of Presentation of Lysosomal Storage Disease in Tertiary Care Hospital of Bangladesh

Lysosomal storage disorders (LSD) are a family of genetic diseases that have a devastating impact on the patient and family with a concomitant health burden. These are inherited in an autosomal recessive or, in some cases, in an X-linked manner. Due to the variability of LSD phenotypes, the clinical characteristics of LSD are also heterogeneous. A hospital-based cross-sectional study was conducted at Department of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka from July 2022 to June 2022 to explore clinical & laboratory profile of various forms of childhood Lysosomal storage disorders. A total of 59 suspected children of Lysosomal storage disorders (LSD), admitted to hospital during the study period, were included in this study. Among them, 55 cases were diagnosed as Lysosomal storage disorders on the basis of clinical suspicion, biochemical testing and neuroimaging study, and in few cases bone marrow study and molecular genetic testing. Mucopolysaccharidosis 24 (43.64%) and metachromatic leukodystrophy 12 (21.82%) were the most common among all lysosomal storage disorders in our study. Neuroregression 26 (47.27%), microcephaly, and dysmorphism were predominant clinical features. Abnormal neuroimaging changes were found in two-thirds 37 (67.27%) of the cases. Among them, periventricular demyelination 12 (21.82%) and cerebral atrophy 6 (10.91%) were common imaging changes in this study.