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)

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

Pediatric spinal vascular malformations are rare entities that typically present with symptoms from their effect on surrounding structures. Here we report a unique case of lumbar spinal dural/perimedullary arteriovenous fistula (AVF) that presented with intraventricular hemorrhage and hydrocephalus. The previously healthy child presented with lethargy and headache, and initial imaging revealed only ventriculomegaly with trace intraventricular blood. His mental status improved with CSF diversion via an external ventricular drain. Further workup revealed a spinal AVF that was treated via endovascular embolization. His course was complicated by vasospasm requiring endovascular treatment and he eventually required ventriculoperitoneal shunt placement. He made a full recovery and has returned to his normal activities. This is a unique case of spinal AVF presentation and highlights the importance of considering imaging of the entire neuroaxis during workup for hydrocephalus.
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PMID:A lumbar arteriovenous fistula presenting with intraventricular hemorrhage and hydrocephalus. 3213

Pediatric spinal vascular malformations are rare entities that typically present with symptoms from their effect on surrounding structures. Here we report a unique case of lumbar spinal dural/perimedullary arteriovenous fistula (AVF) that presented with intraventricular hemorrhage and hydrocephalus. The previously healthy child presented with lethargy and headache, and initial imaging revealed only ventriculomegaly with trace intraventricular blood. His mental status improved with CSF diversion via an external ventricular drain. Further workup revealed a spinal AVF that was treated via endovascular embolization. His course was complicated by vasospasm requiring endovascular treatment and he eventually required ventriculoperitoneal shunt placement. He made a full recovery and has returned to his normal activities. This is a unique case of spinal AVF presentation and highlights the importance of considering imaging of the entire neuroaxis during workup for hydrocephalus.
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PMID:Republished: A lumbar arteriovenous fistula presenting with intraventricular hemorrhage and hydrocephalus. 3218 74

Background: While ventriculoperitoneal shunt (VPS) is the most commonly performed surgical procedure for treating hydrocephalus, complications following shunt placement are associated with a high mortality rate. Preoperative medical optimization and surgery are the primary means of correcting shunt migration. We present the case of an 11-week-old patient who underwent emergent surgical intervention for transrectal VPS migration and associated infection. Case Report: An 11-week-old female presented with VPS tubing protruding from her rectum. The patient had a history of grade III intraventricular hemorrhage complicated by hydrocephalus status post VPS placement at age 3 weeks. Shunt tap demonstrated gross infection, and she was started prophylactically on broad-spectrum antibiotics. She was taken emergently to the operating room (OR) for VPS externalization and exploratory minilaparotomy. VPS tubing was removed, and the patient was transferred to the pediatric intensive care unit for postoperative management. Cultures confirmed methicillin-resistant Staphylococcus aureus, and the patient was treated according to infectious disease recommendations. On postoperative day (POD) 5, the patient had a full component VPS replacement. On POD 23, computed tomography scan of the head obtained for lethargy demonstrated a new midline shift, and she was returned to the OR for another VPS replacement. A small abscess was discovered and drained; postoperative cerebrospinal fluid laboratory values normalized after drainage. Once the infectious process cleared, the VPS was internalized on POD 33, and the patient was discharged home on POD 35. Conclusion: Few case reports detail the appropriate anesthetic considerations for cases of VPS migration. This report describes shunt migration pathophysiology and patient assessment with a focus on anesthetic preparation and management for this rare complication.
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PMID:Perioperative Management for Rectal Migration of a Ventriculoperitoneal Shunt. 3261 85

Traumatic subarachnoid hemorrhage (SAH), a common finding following head trauma, is usually a benign condition with a favorable outcome, seldom requiring surgical intervention. Unlike nontraumatic aneurysmal SAH, most cases of traumatic SAH occur in the sulci of the cerebral convexities, and only rarely arise at the base of the brain. Basal traumatic SAH can be life-threatening and is primarily associated with rupture of vertebrobasilar arteries. We herein present a rare case of basal traumatic SAH resulting from rupture of the posterior communicating artery (PCoA). A 77-year-old male was taken to the emergency department in a semicomatose state. Upon arrival at emergency room, the patient had a Glasgow coma scale (GCS) score of 6 (E1M3V2), and the neurologic examination demonstrated no focal neurologic deficit. Although the trauma history was evident from abrasions and bruising on the face and chest, brain computed tomography (CT) demonstrated basal SAH, which is typical for nontraumatic aneurysmal SAH. Subsequent digital subtraction angiography (DSA) disclosed a traumatic rupture at the mid-portion of right PCoA and ongoing extravasation of contrast media. Despite emergent trapping of the right PCoA by endovascular surgery, the patient's clinical condition only minimally improved. The patient remained bed-ridden with stuporous mentality and persistent hydrocephalus. To the best of our knowledge, this is the first reported case of basal traumatic SAH originating from rupture of the PCoA. This case demonstrates that a meticulous vascular workup is mandatory for every patient with basal SAH, even though a trauma history is clear.
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PMID:Traumatic Subarachnoid Hemorrhage Resulting from Posterior Communicating Artery Rupture. 3261 22


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