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Item Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports(BIOMED CENTRAL LTD, 2017-01-01) Uysal, Fahrettin; Turkgenc, Burcu; Toksoy, Guven; Bostan, Ozlem M.; Evke, Elif; Uyguner, Oya; Yakicier, Cengiz; Kayserili, Hulya; Cil, Ergun; Temel, Sehime G.Background: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. Case presentations: Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectivelyItem Shunt Valve Rupture in Ventriculoperitoneal Shunt Failure(ELSEVIER SCIENCE INC, 2021-01-01) Guduk, Mustafa; Akbas, Ahmet; Tuzunalp, Muruvvet Ayten; Berikol, Gurkan; Eksi, Murat SakirBACKGROUND: Shunt complications are common despite advances in surgial techniques and shunting technology. Proximal and/or distal catheter malfunctions are detected in pediatric and adult patients. However, valve dysfunction is rare in such cases. CASE DESCRIPTION: A 24-year-old woman presented with a history of veotriculostomy and ventriculoperitoneal shunt (VPS) secondary to hydrocephalus concomitant with Dandy-Walker syndrome. She has had undulant headache and vision loss episodes in both eyes for 15 days. Her VPS valve was normal when manually checked, and the VPS was observed as intact on x-ray and computed tomography scan. She had high-grade papilledema in both eyes with an optical coherence tomography scan value of 55/99. Lumbar puncture was performed. Cerebrospinal fluid opening pressure was 560 mm H2O under sedation. VPS exploration surgery was performed. There was a tiny defect over the shunt valve from where clear cerebrospinal fluid was leaking. We revised the old VPS valve with a new valve of 1.5 regular pressure. Her vision improved shortly after the surgery. CONCLUSIONS: This case is a very rare example of shunt valve dysfunction that required further investigation and a new valve replacement even though the preoperative imaging was normal.Item Isolated omental metastasis of renal cell carcinoma after extraperitoneal open partial nephrectomy: A case report(ELSEVIER SCI LTD, 2016-01-01) Acar, Omer; Mut, Tuna; Saglican, Yesim; Sag, Alan Alper; Falay, Okan; Selcukbiricik, Fatih; Tabak, Levent; Esen, TarikINTRODUCTION: Metachronous metastatic spread of clinically localized renal cell carcinoma (RCC) affects almost 1/3 of the patients. They occur most frequently in lung, liver, bone and brain. Isolated omental metastasis of RCC has not been reported so far. CASE PRESENTATION: A 62-year-old patient previously diagnosed and treated due to pulmonary sarcoidosis has developed an omental metastatic lesion 13 years after having undergone open extraperitoneal partial nephrectomy for T1 clear-cell RCC. Constitutional symptoms and imaging findings that were attributed to the presence of a sarcomatoid paraneoplastic syndrome triggered by the development this metastatic focus complicated the diagnostic work-up. Biopsy of the {[}18F]-fluorodeoxyglucose (+) lesions confirmed the diagnosis of metastatic RCC and the patient was managed by the resection of the omental mass via near-total omentectomy followed by targeted therapy with a tyrosine kinase inhibitor. DISCUSSION: Late recurrence of RCC has been reported to occur in 10-20\% of the patients within 20 years. Therefore lifelong follow up of RCC has been advocated by some authors. Diffuse peritoneal metastases have been reported in certain RCC subtypes with adverse histopathological features. However, isolated omental metastasis without any sign of peritoneal involvement is an extremely rare condition. CONCLUSION: To our knowledge, this is the first reported case of metachronously developed, isolated omental metastasis of an initially T1 clear-cell RCC. Constitutional symptoms, despite a long interval since nephrectomy, should raise the possibility of a paraneoplastic syndrome being associated with metastatic RCC. Morphological and molecular imaging studies together with histopathological documentation will be diagnostic. (C) 2016 The Authors. Published by Elsevier Ltd. on behalf of IJS Publishing Group Ltd.Item Acute appendicitis coexisting with acute pyelonephritis causing diagnostic dilemma: a case report(SPRINGER, 2021-01-01) Ozkan, Burak; Ustun, Cemal; Coskuner, Enis RaufBackground Acute appendicitis and acute pyelonephritis are the most common diseases admitted to emergency departments. Both conditions have common symptoms such as flank pain, abdominal pain, and fever. Patients' history, physical examination, laboratory evaluation, and imaging methods are used to differentiate these two conditions. Diverticulitis, colitis, gynecological pathologies, and ureteral stones that mimic acute appendicitis should be kept in mind as differential diagnoses. Cases of pyelonephritis mimicking acute appendicitis have been reported in the literature, but there has not been a reported case in which acute appendicitis occurs during management of acute pyelonephritis. In this article, a case report which can cause such a diagnostic dilemma has been presented. Case presentation A 42-year-old female patient presented with clinical features suggestive of acute appendicitis that developed after a diagnosis of acute pyelonephritis. She underwent laparoscopic appendectomy on account of acute appendicitis during medical treatment for acute pyelonephritis. Physical examination showed only right costovertebral tenderness without any rebound tenderness at McBurney's point at the first admission, but during treatment rebound tenderness at McBurney's point was also detected. The Alvarado score of the patient was 5 at the first admission and 7 when acute appendicitis was diagnosed. The patient fully recovered and was discharged after both diseases were completely treated. Conclusions As seen in this case, it should be remembered that both diseases can be seen together which causes a diagnostic dilemma. If clinical or biochemical progression is detected in a patient under treatment, imaging methods should be repeated and additional ones with higher resolutions should be used.Item Intrasellar arachnoid cyst: A case report and review of the literature(ELSEVIER SCI LTD, 2016-01-01) Guduk, Mustafa; HamitAytar, Murat; Sav, Aydin; Berkman, ZaferINTRODUCTION: Arachnoid cysts (ACs) are frequently found on intracranial imaging studies but intrasellar arachnoid cysts are rarely encountered. PRESENTATION OF CASE: We present a 49-year old patient who had headaches for 6 months and cystic sellar mass was found in his cranial imaging. We operated him by transnasal transsphenoidal route. Our intraoperative diagnosis was an arachnoid cyst and pathologic studies verified our observation. He did well postoperatively and after a 1 year follow-up he was left free from future follow-ups. DISCUSSION: As common cystic lesions occupying the sellar region can simulate ACs both clinically and radiologically, neurosurgeon can fail to include ACs in making the initial diagnosis preoperatively. CONCLUSION: Although a rare entity, arachnoid cysts should be considered in the differential diagnosis of sellar region. (C) 2016 Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd.