Browsing by Author "Patil, Shankargouda V"
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Publication A Case of ALERD Masquerading as Paracetamol Poisoning(Nepal Paediatric Society (JNPS), 2020) Kalyanshettar, Siddarameshwar S; Patil, Shankargouda V; VJ, Prakash; Mahaldar, Asif; Teggi, PrashantAbstract: ALERD (Acute leukoencephalopathy with restricted diffusion) is a clinico – radiological diagnosis. Many novel causes of acute encephalopathy are emerging in children. MRI plays an important role in the diagnosis and management of such children. Many infectious and non-infectious conditions and poisonings are known to precipitate acute leukoencephalopathy. A commonly used drug like paracetamol ingested in large quantities is known to cause varied effects. We describe one such child who presented to us with paracetamol poisoning and developed acute leukoencephalopathy. He was later found to have restricted diffusion on magnetic resonance imaging.Publication Exon 46-48 Deletion of DMD Gene - A Boon in Beckers Muscular Dystrophy(Nepal Paediatric Society (JNPS), 2021) Kulkarni, Trimal; Charki, Siddu; Kalyanshettar, Siddarameshwar S; Patil, Shankargouda V; Patil, Mallangouda MAbstract: Becker's muscular dystrophy (BMD) has wide spectrum of presentation from asymptomatic to severe progressive muscular weakness. Subtle weakness can be missed in busy outpatient units. Traditionally muscle biopsy is used for definitive diagnosis. But it is invasive and less helpful in genetic counseling of inherited dystrophinopathies compared to genetic studies. Newer techniques like next generation sequencing (NGS) also help in understanding many phenotype-genotype co-relations. We describe here a seven year boy who presented with mild weakness, without any evidence of cardiomyopathy and had exon 46 - 48 deletion on NGS.