Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Malignant rhabdoid tumor of the kidney (MRTK) is a rare neoplasm of infancy. We report a case of a nine-month-old male infant who presented to the pediatrics outpatient department with the history of fever, lethargy, and abnormal head movements. On gross examination, the patient had a firm, non-tender, intra-abdominal mass at the right lumbar region with irregular margins. Computed tomography scan of the abdomen revealed a lobulated soft tissue arising from the kidney with areas of necrosis. Brain magnetic resonance imaging was also performed, which showed a large heterogeneous lesion in the posterior fossa. Histopathologic study revealed loss of INI1 protein. Since MRTK and atypical teratoid rhabdoid tumor (ATRT) of the brain share a common mutation in the gene (hSNF5/INI1), hence a diagnosis of MRTK with co-existent ATRT of the brain was established. Actinomycin-D and vincristine failed to show any improvement and the condition of the patient deteriorated progressively, resulting in his death within 15 days of hospital admission.
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PMID:Co-existent Rhabdoid Tumor of The Kidney and Brain in a Male Infant: A Rare Case. 3163 75