Publications by authors named "Bakkamanthala S K Kanth"
Epithelioid inflammatory myofibroblastic sarcoma (EIMS), a variant of inflammatory myofibroblastic tumor (IMT), is a rare malignant tumor commonly associated with anaplastic lymphoma kinase (ALK) gene fusions and is aggressive in nature with local recurrence. Here, we report a case of a 23-year-old female who presented with a cough and, upon investigations, was found to have a mass in the left upper lobe of the lung detected by chest computed tomography (CT). Biopsy revealed EIMS with ALK and desmin protein expression.
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- Glycogen storage disorders (GSDs) are metabolic disorders caused by enzyme deficiencies affecting glycogen synthesis or breakdown, with GSD type IX linked to a deficiency in phosphorylase kinase.
- A rare case of GSD type IXb was documented in a young boy with significant symptoms such as delayed motor skills and hepatosplenomegaly, leading to the discovery of a specific mutation in the PHKB gene.
- The study underscores the genetic diversity among GSD IXb cases, suggesting that personalized diagnostic strategies are essential for effective identification and management.