Ayşe Güler

Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families

Lafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes. Mutational analysis in both genes was initiated with the aim of establishing LD DNA diagnosis in Turkey. Four novel NHLRC1 (p.G131X, p.P69S and p.D82H) and EPM2A (p.V7A) and two recurrent NHLRC1 (p.D146N) and EPM2A (p.R241X) mutations were identified in six families. The delineation of causative mutations in patients provided early disease diagnosis for other family members and contributed to the knowledge of LD pathogenesis.

A non-alcoholic Wernicke’s encephalopathy case with atypical MRI findings: Clinic versus radiology

Wernickes Encephalopathy is an acute neuropsychiatric syndrome that can be seen in both alcohol abusers and non-alcoholic population as a result of thiamine deficiency. We herein report a non-alcoholic patient with typical clinical presentations but atypical MRI findings. Early clinical suspicion of WE is especially important in non-alcoholic patients with atypical MRI findings. The diagnosis of this group is more difficult to make and the prognosis of the syndrome mostly depends on early initiation of thiamine supplementation.

Clinical and video head impulse test in the diagnosis of posterior circulation stroke presenting as acute vestibular syndrome in the emergency department

INTRODUCTION Head impulse test (HIT) is the critical bedside examination which differentiates vestibular neuritis (VN) from posterior circulation stroke (PCS) in acute vestibular syndrome (AVS). Video-oculography based HIT (vHIT) may have aadditional strength in making the differentiation. METHODS Patients admitted to the emergency department of a tertiary-care medical center with AVS were studied. An emergency specialist and a neurologist performed HIT. vHIT was conducted by an neuro-otology research fellow. RESULTS Forty patients 26 male, 14 female with a mean age of 49 years were included in the analyses. Final diagnoses were VN in 24 and PCS in 16 patients.In the VN group, clinical HIT was assessed as abnormal in 19(80%) cases by the emergency specialist and in 20(83%) by the neurologist. In all PCS patients, HIT was recorded as normal both by the emergency specialist and the neurologist (100%).On vHIT, patients with VN had significantly low gain values for both the ipsilesional and contralesional sides when compared with the healthy controls, with significantly lower figures for the ipsilesional side (p < 0.001). All patients in this group had normal DWI-MRI.PCS patients had bilaterally low gain (p < 0.05) on vHIT. However, gain asymmetry was not significant. Subgroup analyses according to presence of brainstem involvement revealed bilateral low gain (p < 0.05) in patients with brainstem infarction (anterior inferior cerebellar artery-posterior inferior cerebellar artery stroke, AICA-PICA stroke) whereas patients with pure cerebellar infarction (posterior inferior cerebellar artery-superior cerebellar artery stroke, PICA-SCA stroke) had gain values similar to healthy controls.With a gain cut-off ≤0.75 and gain asymmetry cut-off ≥17%, as determined by ROC analysis, 100% of PCS patients and 80% of VN patients were correctly diagnosed. CONCLUSIONS Clinical HIT, either performed by an emergency specialist or neurologist is equivalent to vHIT gain and gain asymmetry analysis as conducted by neuro-otologist in the diagnosis of PCS, albeit mislabeling about 20% of VN patients. vHIT does not appear to yield additional diagnostic information. These findings indicate the strength of clinical HIT. Pure gain-based vHIT analysis seems limited and needs to be incorporated with saccade analysis.

Investigation of the efficacy of colorimetric capnometry method used to verify the correct placement of the nasogastric tube

OBJECTIVES This present study was designed to determine the efficacy of the colorimetric capnometry method used to verify the correct placement of the nasogastric tube. METHODS The present study comprised forty patients who had a nasogastric tube inserted and were being monitored in the adult intensive care unit. After the insertion of the nasogastric tube, 40 colorimetric capnometry and 40 auscultation measurements were performed. Auscultation and colorimetric capnometry results were compared with tube placement results confirmed radiologically. RESULTS In the confirmation of the placement of the nasogastric tube, the consistency was 97.5% (p<0.05) between the colorimetric capnometry method and the radiological method, and 82.5% (p>0.05) between the auscultatory method and the radiological method. The oesophageal placement of the nasogastric tube was detected with the colorimetric capnometry method, but the gastric and duodenal insertions were not determined. While the sensitivity and specificity of the colorimetric capnometry method in determining the correct placement of the nasogastric tube were 1.00 and 0.667 respectively, those of the auscultatory method were 0.89 and 0.0 respectively. CONCLUSION As a result, for the confirmation of the NGT placement, the colorimetric capnometry method is considered more reliable than the auscultatory method and is compatible with the radiological method. However, the colorimetric capnometry method is inadequate to distinguish between the gastric or duodenal insertion.

A case with hyperammonemic encephalopathy triggered by single dose valproate.

Hyperammonemic encephalopathy rarely occurs when valproate is used alone. Underlying urea cycle enzyme deficiencies, concomitant drugs like salicylates, topiramate, underlying liver disease, high initial dose and long-term valproate therapy are the main known risk factors [1]. Here, we present a case of hyperammonemic encephalopathy which is triggered by single dose of valproic acid. A 19-year-old girl was admitted to our clinic with sudden episode of altered state of consciousness. She had learning difficulties and diagnosed as attention deficit hyperactivity disorder when she was 7 years old. Because of her aggressive and inappropriate behaviors, she had been using sertraline 50 mg/day for the last 2 years. One day before her new symptom, sertraline was changed to valproate 1000 mg/day. She was confused, uncooperative and there was no any motor deficits, neck stiffness on neurological examination. Biochemical tests (liver function tests, renal function tests, serum electrolytes) and complete blood count were normal but serum ammonia level was elevated (588 mcg/dl, normal range 5–40 mcg/dL). Serum concentration of total valproic acid was lower than therapeutic range (44 mg/L, therapeutic range 50–100 mg/L). Brain MR showed bilateral cortical and subcortical diffusion restriction with corresponding ADC hypointensity and Flair hyperintensity on the same localizations (Fig. 1). Electroencephalography (EEG) revealed diffuse slowing with delta activity. During clinical follow-up, serum ammonia level also progressively increased to 900 mcg/ dL. With hemodialysis, it regressed to 300 mcg/dL; so patient underwent eight-session hemodialysis. On the 13th day of the treatment, serum ammonia level was normal and her neurologic findings were also resolved. She was discharged from hospital without any neurological sequelae. Serum amino acid levels showed that low citrulline (9 lmol/L, normal range 12–55 lmol/L) with normal arginine, alanine and ornithine concentrations. Urine orotic acid level was also low (0.37 mmol normal range 0.4–1.2 mmol). In the light of these findings, carbamoyl phosphate synthetase 1 deficiency was suspected and genetic test revealed that there was heterozygous mutations on chromosome 2q35, exon 19 c.2339G[A (p.Arg780His) and exon 27 c3402G[C (p.Leu1134Phe). ‘Valproate sensitivity’ has been observed with ornithine transcarbamylase (OTC) and carbamoyl phosphate synthetase 1 deficiency (CPS1) in urea cycle disorders. In fact without any metabolic defects, valproate itself can cause hyperammonemia by inhibiting the activity of carbamoyl phosphate synthetase 1 [2] and if patients have also undiagnosed urea cycle disorder, hyperammonemia can cause deleterious results. OTC is the most common inherited cause of hyperammonemia; so screening for this enzyme deficiency is usually recommended [3]. In the literature, only three cases were reported as valproate induced hyperammonemia related to CPS-1 deficiency. CPS1 catalyzes the first step of the urea cycle and metabolic tests in CPS1 deficiency show low serum citrulline and also low urine orotic acid levels. This findings help clinician in the differentiation CPS1 deficiency from OTC because in OTC deficiency, with low serum citrulline level, urine orotic acid level increases. CPS1 deficiency is a rare, autosomal-recessive inborn error of the urea cycle characterized by episodes of life& S. Ciftci symciftci@hotmail.com

Magnetic Resonance Imaging Characteristics of Persistent Vegetative State Due to Prolonged Hypoglycemia

Hypoglycemia is the sudden decrease in serum glucose level <50mg/dL. Neurological manifestations complicating profound and prolonged hypoglycemia range from reversible focal deficits and transient encephalopathy to irreversible coma. Here, we report magnetic resonance imaging characteristics of a patient with prolonged hypoglylicemia. A 47-year-old woman with a history of insulin dependent diabetes mellitus has been brought to the emergency room by her relatives. She used mistakenly overdose insulin injection and probably stayed 11 hours with low level blood glucose. The initial blood sugar level was 39.6 mg/dL at the emergency department visit, which was recovered urgently by 50% dextrose. MR imaging revealed high intensities at the bilateral posterior parietal cortices, corona radiata and hippocampus, but not in the basal ganglia. Seventy-two hour after admission, confluent lesions in the posterior parietal, temporal, frontal cortices and splenium of corpus callosum were more prominent on DWI and FLAIR, and did not match typical arterial territories. None of the lesions were enhanced on contrast-enhanced T1-weighted images. The prognosis or neurologic sequelae of hypoglycemic encephalopathy may depend on the severity and duration of hypoglycemia and persistent, diffuse involvement of the cerebral cortex, basal ganglia, or hippocampus on the following MR imaging. MR imaging findings in hypoglycemic vegetative state can be helpful in the differential diagnosis distinguishing from other neurologic conditions.

Pseudallescheria boydii infection of the central nervous system: first reported case from Turkey

Pseudallescheria/Scedosporium boydii complex (P. boydii) is a ubiquitous fungus that shows tropism for central nervous system (CNS), blood vessels, and polymorphonuclear leucocytes ending up with a wide spectrum of diseases. There are rare cases reported with CNS involvement, mainly as brain abscess (69 %) and meningitis (9 %) [1]. Disseminated infection is mostly seen in immunocompromised patients. We herein report the first patient from Turkey with disseminated P. boydii infection involving the CNS, lungs and pancreas.

Glasgow coma scale and APACHE-II scores affect the liver transplantation outcomes in patients with acute liver failure.

BACKGROUND The timing and selection of patients for liver transplantation in acute liver failure are great challenges. This study aimed to investigate the effect of Glasgow coma scale (GCS) and APACHE-II scores on liver transplantation outcomes in patients with acute liver failure. METHOD A total of 25 patients with acute liver failure were retrospectively analyzed according to age, etiology, time to transplantation, coma scores, complications and mortality. RESULTS Eighteen patients received transplants from live donors and 7 had cadaveric whole liver transplants. The mean duration of follow-up after liver transplantation was 39.86+/-40.23 months. Seven patients died within the perioperative period and the 1-, 3-, 5-year survival rates of the patients were 72%, 72% and 60%, respectively. The parameters evaluated for the perioperative deaths versus alive were as follows: the mean age of the patients was 33.71 vs 28 years, MELD score was 40 vs 32.66, GCS was 5.57 vs 10.16, APACHE-II score was 23 vs 18.11, serum sodium level was 138.57 vs 138.44 mmol/L, mean waiting time before the operation was 12 vs 5.16 days. Low GCS, high APACHE-II score and longer waiting time before the operation (P<0.01) were found as statistically significant factors for perioperative mortality. CONCLUSION Lower GCS and higher APACHE-II scores are related to poor outcomes in patients with acute liver failure after liver transplantation.

Non-alkolik nedenlere bağlı gelişen Wernicke ensefalopatisinde manyetik rezonans görüntüleme bulguları

Amac: Wernicke ensefalopatisi (WE) tiamin (vitamin B1) eksikligine bagli olarak gelisen noropsikiyatrik bir hastaliktir. Siklikla kronik alkolizme bagli olarak gorulmekle birlikte tiamin alim veya emilim eksikligine neden olan her turlu durumda ortaya cikabilir. Bu calismanin amaci tedavi edilmedigi takdirde olume kadar giden ciddi sonuclar dogurabilen bu hastaligin tani ve izleminde manyetik rezonans goruntulemenin (MRG) onemini vurgulamaktir. Gerec ve Yontem: Calismamiza kurumumuzda hospitalize edilen ve non-alkolik nedenlerle WE tanisi alan 10 hasta dahil edildi. Hastalarin MRG tetkiklerinde tutulum yerlerinin lokalizasyonuna gore tipik ve atipik bulgularin varligi degerlendirildi. Ayrica eslik eden difuzyon kisitliligi varligi arastirildi. Bulgular: Kraniyal MRG’de tipik tutulum alanlari 10 hastada bilateral talamus mediali, 8 hastada bilateral mamiller cisim, 7 hastada periakuaduktal alan/tektal plak olarak tespit edildi. Atipik tutulum alanlari ise 5 hastada forniks, 4 hastada serebral korteks, 2 hastada putamen, 1 hastada ise serebellum tutulumu seklinde idi. 8 hastada bu bulgulara difuzyon kisitliligi eslik etmekteydi. Sonuc: Sunulan calismanin sonuclarina gore, n on-alkolik WE tanili olgularda MRG’de, alkolik WE tanili olgularla benzer bulgular gozlenmektedir. Bu hastalarin tani ve tedavilerinin gecikmemesi amaciyla MR goruntulemenin kullaniminin onemli rol oynadigi sonucuna varilmistir.

Reliability and validity of the Turkish version of the Danish Prostatic Symptom Score to assess lower urinary tract symptoms in stroke patients

BACKGROUND Lower urinary tract dysfunction (LUTD) is one of the most frequently encountered problems in stroke.OBJECTİVE:To assess the validity and reliability of the Turkish Danish Prostatic Symptom Score (DAN-PSS) in stroke patients with LUTD. METHODS A total of 50 patients were included in the study. The reliability was assessed using Cronbach α and intraclass correlation coefficient (ICC) methods, and the validity using the correlations between the subgroup and overall scores of DAN-PSS and the scores of the Barthel Index (BI), International Consultation on Incontinence Questionnaire Short Form (ICIQ-SF), and Short Form 36 (SF-36). RESULTS The Cronbach α values were found >0.97 and ICC 0.953-0.990 for all subgroup scores. We found a significant negative correlation between all the sub-scores of DAN-PSS and the BI, and a significant positive correlation between all the sub-scores of DAN-PSS and ICIQ-SF (p < 0.05). The symptom score of DAN-PSS had a significant negative correlation with the physical functioning, physical and emotional role subdomains of the SF-36 survey (p < 0.05). CONCLUSIONS We have shown the reliability and validity of the Turkish DAN-PSS, and we think that it will be useful to utilize it in the monitoring of patients with stroke and in clinical studies.