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Approach to Vacuolar Myopathy
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Autophagic vacuolar myopathy (AVM) refers to cases presented with myopathic features and vacuoles containing protein aggregates (Figures 15.1 and 15.2). These protein aggregates are seen as eosinophilic solid materials on H&E stain. The most common differential in this list is metabolic myopathy due to glycogen deposition such as Pompe disease. Acid PO4, PAS, and PAS-D are important stains to rule out glycogen storage diseases. However, other causes of autophagic vacuolar myopathies are listed in Figure 15.2.
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
Published in Ophthalmic Genetics, 2019
Monika Meinert, Elisabet Englund, Carola Hedberg-Oldfors, Anders Oldfors, Björn Kornhall, Catarina Lundin, Elisabeth Wittström
A 1-base duplication mosaic mutation c.135dupA; p.(Trp46Metfs*10) in exon 2 of the LAMP2 gene was identified in the patient in the present study. This frameshift mutation was expected to result in truncation of the LAMP2 protein. Two overlapping truncating mutations in the same region as the present case, c.137G>A; p.(Trp46*) and c.138G>A; p.(Trp46*), have been reported in patients with Danon disease (25,26). A de novo novel LAMP2 mutation, c.179delC, at the 3´ end of exon 2, resulting in a frameshift with a premature stop codon, has been identified in a 14-year-old boy with Danon disease, exhibiting massive hypertrophic cardiomyopathy, mental retardation, and skeletal myopathy. Muscle biopsy revealed autophagic vacuolar myopathy, and immunohistochemical analysis showed a lack of LAMP2 protein (27).
Ocular Manifestations of Neuronal Ceroid Lipofuscinoses
Published in Seminars in Ophthalmology, 2021
Rohan Bir Singh, Prakash Gupta, Akash Kartik, Naba Farooqui, Sachi Singhal, Sukhman Shergill, Kanwar Partap Singh, Aniruddha Agarwal
CLN-3 is the most common neurodegenerative illness of childhood, as well as the most common type of NCL in the United States and European countries.62,63 CLN3 is characterized by an early degeneration predominant of the first and second neuron compared to other macular and generalized retinal dystrophies.64 CLN-3 gene is present on the short arm of chromosome 16, and 67 mutations have been identified associated with the CLN-3 gene.2 The inheritance of mutations occurs in an autosomal recessive manner. The most commonly reported variation is a deletion of approximately 1kb, which creates a protein product with partial function and is responsible for the classic phenotype of the illness in the presence of homozygosity.65,66 The compound heterozygosity in approximately one-fifth of the patients may account for variations in disease phenotype.67 In the remaining cases, lesser-known phenotypes of CLN-3 mutations include isolated retinitis pigmentosa without other systemic features, and autophagic vacuolar myopathy which is associated with cardiac failure.67–69Interestingly, the neurological functions are preserved in these variants. The normal protein product, Battenin, a transmembrane protein present in lysosomes and endosomes, is believed to play essential roles in endocytic trafficking, lysosomal pH regulation, cell migration and morphology, regulation of cell cycle and apoptosis.70 However, there is insufficient evidence of the role of defective protein in the pathogenesis of the disease. The current evidence suggests that lipid peroxidation, abnormal dolichol metabolism, and impaired regulation of inflammation are central to the disease pathophysiology. Accumulation of subunit c of mitochondrial ATP synthase leads to progressive neuronal apoptosis and finally leads to premature death.66