Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large gro... more Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications.
Inverted papilloma of urothelium is a rare benign tumour accounting for 1–2% of all the urothelia... more Inverted papilloma of urothelium is a rare benign tumour accounting for 1–2% of all the urothelial lesions. Morphologically, these are of two main subtypes – trabecular and glandular, of which the former subtype is most frequently encountered compared to the latter. The glandular subtype closely mimics cystitis glandularis and urothelial carcinoma with inverted growth pattern. We discuss a case of a 27-year-old male presenting with hematuria. On cystoscopy, he was found to have a bladder mass which was diagnosed as glandular-type of inverted papilloma on histopathology. The image illustrates the histopathology for easy identification and early diagnosis of this rare entity.
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large gro... more Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications.
Inverted papilloma of urothelium is a rare benign tumour accounting for 1–2% of all the urothelia... more Inverted papilloma of urothelium is a rare benign tumour accounting for 1–2% of all the urothelial lesions. Morphologically, these are of two main subtypes – trabecular and glandular, of which the former subtype is most frequently encountered compared to the latter. The glandular subtype closely mimics cystitis glandularis and urothelial carcinoma with inverted growth pattern. We discuss a case of a 27-year-old male presenting with hematuria. On cystoscopy, he was found to have a bladder mass which was diagnosed as glandular-type of inverted papilloma on histopathology. The image illustrates the histopathology for easy identification and early diagnosis of this rare entity.
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Papers by Sonal Singla