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)

A seven-year-old male Border Collie was presented with a history of lethargy, episodic circling, incoordination and polydypsia. Physical examination revealed depression, obesity and bradycardia. A neurological examination indicated the possible presence of a space-occupying lesion in the brain. Results of the clinical investigation revealed hyposthenuria, sinus bradycardia and increased concentration of protein in the cerebrospinal fluid. A computerised axial tomography scan revealed a mass in the region of the hypophysis. The dog was euthanased and a post mortem examination confirmed the presence of a craniopharyngioma.
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PMID:A craniopharyngioma in a seven-year-old dog. 194 90

A 16 year female with a history of developmental delay and shunted hydrocephalus presented with two months of progressive headaches, lethargy and visual disturbances. An MRI of the brain revealed a sellar and suprasellar cystic mass which was absent on a previous MRI six years earlier. The pre-operative clinical diagnosis was pituitary adenoma vs. craniopharyngioma. Histologically, the fibrous wall of the ciliated epithelial-lined cyst was thickened by non-caseating granulomatous inflammation, hemorrhage, hemosiderin, and cholesterol clefts, consistent with cyst rupture. Rathke's cleft cysts are uncommon symptomatic lesions in young people, and must be distinguished from craniopharyngioma.
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PMID:December 1998--16 year old female with headaches, lethargy and a sellar/suprasellar mass. 1021 56

We report a case of a patient with newly diagnosed, locally extensive and cystic, suprasellar papillary craniopharyngioma successfully treated with single-agent Dabrafenib. The patient was symptomatic with gait imbalance with falls, lethargic episodes, fatigue and incontinence. Diagnostic imaging demonstrated a cystic suprasellar tumor extending into the third ventricle causing obstructive hydrocephalus. The tumor was partially debulked, and bilateral shunts were placed. NGS sequencing demonstrated BRAF V600E mutation, and the patient was prescribed dual agent Dabrafenib and Trametinib. However, due to insurance denial for Trametinib, he only received single-agent Dabrafenib (150mg BID). The treatment resulted in a major response (over two years), including reduction of the tumor cyst, and improvement of the clinical symptoms. No adverse events have been reported. The patient continues on Dabrafenib (150 mg BID) with a steady reduction in tumor size, and improvement in cognitive function leading to independent living.
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PMID:Newly diagnosed papillary craniopharyngioma with BRAF V600E mutation treated with single-agent selective BRAF inhibitor dabrafenib: a case report. 3166 33