Niemann Pick disease: a rare lysosomal storage disease

Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other lipids in reticuloendothelial cells of various organs like liver, spleen, bone marrow, lymph node, brain, nerves and kidney. Four types of the disease have been identified i.e. A, B, C and D. We report a case of Niemann Pick Disease type C. The patient was a 2.5 years female child who presented with developmental regression, recurrent seizures, failure to thrive and hepatospleenomegaly. Bone marrow (BM) aspiration was performed which showed hypercelluler marrow with few fat laden macrophage resembling foam cell that are characteristics of this disease. BSMMU J 2022; 15(2): 141-14

Genomic landscape of prominent XDR Acinetobacter clonal complexes from Dhaka, Bangladesh

Background: Acinetobacter calcoaceticus-A. baumannii (ACB) complex pathogens are known for their prevalence in nosocomial infections and extensive antimicrobial resistance (AMR) capabilities. While genomic studies worldwide have elucidated the genetic context of antibiotic resistance in major international clones (ICs) of clinical Acinetobacter spp., not much information is available from Bangladesh. In this study, we analysed the AMR profiles of 63 ACB complex strains collected from Dhaka, Bangladesh. Following this, we generated draft genomes of 15 of these strains to understand the prevalence and genomic environments of AMR, virulence and mobilization associated genes in different Acinetobacter clones. Results: Around 84% (n = 53) of the strains were extensively drug resistant (XDR) with two showing pan-drug resistance. Draft genomes generated for 15 strains confirmed 14 to be A. baumannii while one was A. nosocomialis. Most A. baumannii genomes fell under three clonal complexes (CCs): the globally dominant CC1 and CC2, and CC10; one strain had a novel sequence type (ST). AMR phenotype-genotype agreement was observed and the genomes contained various beta-lactamase genes including blaOXA-23 (n = 12), blaOXA-66 (n = 6), and blaNDM-1 (n = 3). All genomes displayed roughly similar virulomes, however some virulence genes such as the Acinetobactin bauA and the type IV pilus gene pilA displayed high genetic variability. CC2 strains carried highest levels of plasmidic gene content and possessed conjugative elements carrying AMR genes, virulence factors and insertion sequences. Conclusion: This study presents the first comparative genomic analysis of XDR clinical Acinetobacter spp. from Bangladesh. It highlights the prevalence of different classes of beta-lactamases, mobilome-derived heterogeneity in genetic architecture and virulence gene variability in prominent Acinetobacter clonal complexes in the country. The findings of this study would be valuable in understanding the genomic epidemiology of A. baumannii clones and their association with closely related pathogenic species like A. nosocomialis in Bangladesh. 2022, The Author(s).This work was funded by North South University Conference Travel and Research Grants (NSU CTRG) Committee under the grant number: NSU-RP-18-042.Scopu

Relationship between gross motor function and magnetic resonance imaging findings in children with cerebral palsy

This cross-sectional study was carried out at the department of Pediatric Neurology, Institute of Pediatric Neurodisorder and Autism, Bangabandhu Sheikh Mujib Medical University, Dhaka with the aim to assess the relationship between gross motor function and MRI findings in children with cerebral palsy. The duration of the study was 12 months. All the cerebral palsy cases who met the selection criteria were enrolled. Detailed history taking and physical examination was done. The gross motor function of all cases was evaluated according to Gross Motor Function Classification System- Expanded and Revised (GMECS-E and R). Magnetic resonance imaging of brain was done in all enrolled patients and reports were evaluated. MRI findings were classified as maldevelopment, cortical and subcortical gray matter lesion, periventricular white matter injury, basal ganglia lesion, normal and other findings. A total of 45 children with cerebral palsy aged between 2 to 12 years were included in this study. Mean age of the children was 4.73 (+3.17) years. Male were 31 and female were 14 in number. Functionally majority patients were in GMFCS level IV (26.7%) and level V (20%). MRI findings were abnormal in 35 (77.78%) cases. Most common abnormal MRI finding was cortical and subcortical grey matter lesions 22 (48.9%). This study revealed that cortical and subcortical gray matter lesions were significantly associated with higher level of GMFCS (IV-V) (P=0.038) and maldevelopment of brain were also significantly associated with higher level of GMFCS (P=0.01). Normal MRI findings had significant association with mild to moderate GMFCS level (I-III) (P=0.012). From this study significant relationship was found between gross motor function and MRI of brain findings in children with cerebral palsy. Bangabandhu Sheikh Mujib Medical University Journal 2022;15(4):8-1