BackgroundCongenital sucrase-isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase (SI) gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations.MethodsThe variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and 2022 and had undergone genetic testing of the SI gene considering CSID due to diet-related complaints.ResultsTen patients with chronic diarrhea were genetically evaluated with SI gene sequencing. In patients diagnosed with CSID and whose symptoms improved with enzyme replacement therapy, the genetic mutation zygosity was found to be heterozygous at a rate of 90%. In 10% of the patients, the mutation was homozygous. Limiting consuming sucrose and isomaltose foods reduced the patients' complaints, but the symptoms did not disappear completely. With the initiation of sacrosidase enzyme replacement therapy, the patient's complaints completely disappeared.ConclusionIn CSID, defined as an autosomal recessive disease, clinical symptoms can also be seen in heterozygous cases previously described as carriers, and these patients also benefit from sacrosidase enzyme replacement therapy. In light of these findings, the autosomal recessive definition of CSID does not fully characterize the disease.What is Known:CSID is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase gene variants.In congenital sucrase-isomaltase deficiency, an autosomal recessively inherited disorder, symptoms can also be seen in individuals with heterozygous mutations.What is new:Severe disease symptoms can also be seen in heterozygous cases, which were thought to be carriers because the disease was previously described as autosomal recessive.Sacrosidase enzyme replacement therapy also eliminates the disease symptoms in patients with heterozygous CSID mutations.This is the second study on sucrase-isomaltase enzyme deficiency pediatric groups in Turkiye and Europe. This is the study to evaluate the congenital sucrase-isomaltase enzyme deficiency in chronic diarrhea cases covering adults and childhood in our country and the clinical features and treatment response characteristics of the variants detected in these patients.In addition, another aim of our study is that sucrase-isomaltase enzyme deficiency should be considered in the differential diagnosis and should be kept in mind, especially in cases with chronic diarrhea whose cause cannot be determined in childhood.

BACKGROUND:Liver transplantation is a life-saving treatment for end-stage pediatric liver failure. We aimed to present the results of pediatric liver transplants performed in our center in the last 11 years (between 2012 and March 2022) in association with prognostic factors affecting survival. METHODS:Demographic characteristics, etiologic reasons, previous operations (Kasai procedure), morbidity, mortality, survival, and bilio-vascular complication rates were determined, and outcomes were evaluated. In the postoperative period, the duration of mechanical ventilation and intensive care unit stay and surgical and other complications were evaluated. Graft and patient survival rates were determined, and univariate and multivariate factors affecting these rates were evaluated. RESULTS:In the last 10 years, 229 pediatric liver transplantaion (Pe-LT)/1513 adult liver taransplantation (Ad-LT) (21.35%) were performed in our center. This ratio (Pe-LT/Ad-LT ratio) is 1741/15,886 (10.95%) for our country. A total of 229 liver transplants were performed in 214 pediatric patients. Retransplantation was performed in 15 patients (6.55%). Cadaveric liver transplantation was performed in 9 patients. Graft survival rates were 87%, 83%, 78%, 78%, 78%, and 78% at <30 days, 30 to 90 days, 91 to 364 days, 1 to 3 years, and >3 years, respectively. Patient survival rates for <30 days, 30 to 90 days, 91 to 364 days, 1 to 3 years, and >3 years were 91.5%, 85.7%, 82%, 81.5%, and 81.5%, respectively. Our 5-year survival rates in metabolic diseases and the acute fulminant failure group are 93.8% and 100%, respectively. CONCLUSIONS:The fact that the 1- and 5-year survival rates are the same shows that when patients overcome biliary vascular and infectious problems, their survival is prolonged.

Congenital sucrase-isomaltase deficiency (CSID) is a rare autosomal carbohydrate malabsorption disorder caused by mutations in the sucrase-isomaltase gene. While the prevalence of CSID is high in the indigenous populations of Alaska and Greenland, it is imprecise and ambiguous in the Turkish pediatric population. In this cross-sectional case-control study, which is retrospective in nature, next-generation sequencing (NGS) results obtained from records of 94 pediatric patients with chronic nonspecific diarrhea were reviewed. Demographic characteristics, clinical symptoms and treatment responses of those diagnosed with CSID were evaluated. We identified one new, homozygous frame-shift mutation and 10 other heterozygous mutations. Two cases were from the same family and nine were from different families. While the median age at onset of symptoms was 6 months (0-12), median age at diagnosis was 60 months (18-192) with a median delay of 5 years and 5 months (10 months -15 years and 5 months) in diagnosis. Clinical symptoms included diarrhea (100%), abdominal pain (54.5%), vomiting after consuming sucrose (27.2%), diaper dermatitis (36.3%) and growth retardation (81%). Our clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey. In addition, the frequency of heterozygous mutation carriers was significantly higher than that of homozygous mutation carriers and those with a heterozygous mutations responded well to the treatment.

Recurrent acute liver failure (RALF) is a rare clinical entity characterized by recurrent episodes of acute liver failure and complete recovery of symptoms and laboratory findings within the episodes. Causes include autoimmune disease, which may flare and subside; intermittent exposure to toxins, as with ingestions; and metabolic disorders affecting the mitochondrial respiratory chain, the long-chain fatty acid oxidation pathway or the carnitine cycle, dihydrolipoamide dehydrogenase (E3) deficiency, Wolcott-Rallison syndrome and citrullinemia (Haack TB et al., Am J Hum Genet 2015; 97: 163–9. Bindi V et al., Arch Argent Pediatr 2017; 115: 39–42). However, approximately 50% of the patients cannot be diagnosed despite detailed laboratory investigations. It is likely that monogenic disorders could explain at least some of these undiagnosed cases.

Early or late posttransplant opportunistic infections are among the leading complications after liver transplant. The source of early posttransplant opportunistic infections is usually the patient, the implantation of an infected graft, contamination during a surgical procedure, or invasive interventions performed at the intensive care unit. A 10-year-old male patient with Wilson disease (Pediatric End-Stage Liver Disease Score of 42, Child-Pugh score of 12, total bilirubin 40 mg/dL, platelet count 55000/mL, hemoglobin level 6.3 g/dL, albumin level 1.7 g/dL, urinary copper level 4305 μ/24 h) was closely monitored in the pediatric intensive care unit of our liver transplantation center for care of a worsened general status. A deceased-donor liver transplant was performed using a right lobe liver graft (ex vivo split) obtained through the national organ sharing network. The patient developed rightward deviation of eyes and altered consciousness after the procedure and underwent cranial magnetic resonance imaging and computerized tomography examinations. The cranial magnetic resonance image, taken on the third postoperative day, revealed lesions consistent with embolic infarction, and the computed tomography scan, taken on the eighth day, showed intracerebral hemorrhage. Decompressive craniotomy, which included hematoma drainage and catheter placement, was performed. Culture and histopathologic examinations of the hematoma material revealed a Penicillium species of fungi. However, the patient died before a definitive diagnosis was made. The aim of this report is to raise awareness on early posttransplant opportunistic infections of the central nervous system presenting with intracranial hemorrhage following liver transplant.

Objective: Liver transplantation offers a quality life chance for children and adolescents who have a serious liver disease. Chronic illness, invasive interferences, hospitalization of the transplantation and stay in the intensive care unit, medication compliance and side effects, and complications after transplantation cause a significant degree of mental stress and may lead to a deterioration of mental health. This study aimed to evaluate the psychological difficulties of children after liver transplantation. Methods: This randomized controlled trial included 48 liver transplant patients between 4-18 years of age who had received liver transplants in the İnonu University Turgut Ozal Medical Center transplant unit, 37 patients with chronic liver disease and 50 healthy children and adolescents. Families of children and adolescents participating in this study filled the sociodemographic data form and parents form of Strength and Difficulties Questionnaire (SDQ). Literate children age seven years and older and adolescents answered The Child Posttraumatic Stress Disorder Symptom Scale (CPSS); those 11 years and over answered SDQ self-report form. Results: There was no difference between the three groups in terms of age and gender (p<0.05). Comparing CPSS scores of the groups, there was no significant difference between chronic liver disease and transplant patients groups; it was determined that chronic liver disease and transplant patient groups scored significantly higher than the healthy group (p<0.05). Significant differences were not detected in terms of GGA-total and subscale scores between the three groups. Conclusion: The results of this study suggest that the mental state of children with chronic liver disease and liver transplant is similar to healthy controls. However, the presence of symptoms of posttraumatic stress disorder in children in the two groups suggested that they are at risk in this regard.

Objective Many cardiovascular complications, including hypertension, are seen in pediatric liver transplantation. The purpose of this study was to analyze the frequency of arterial hypertension of pediatric liver transplant recipients and also to determine the related risk factors. Methods Thirty-six pediatric liver transplant recipients aged 8–17 years were prospectively studied by manual and ambulatory blood pressure measurement (ABPM) technique. Results The mean age of patients was 12.42 ± 2.74 years and the mean ABPM measurement time after transplantation was 2 years (3 months–5.9 years). Only one (2.7%) patient was detected as hypertensive by casual measurement, but 17 (47.2%) patients were found to be hypertensive when measured through ABPM. Of children that were found to be hypertensive as a result of ABPM, 64.7% were observed to have a nondipper pattern. Considering the time passed after the transplantation, patients were found to be more hypertensive in the first 2 years posttransplant although it was not found statistically significant. Conclusions In this study, it has been shown that it is possible to diagnose hypertension at an earlier period of transplantation using ABPM in pediatric liver transplant patients. ABPM is needed to detect masked hypertension that may develop following liver transplantation.

Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to be very effective in reversing the risk of hepato-splenomegaly, cytopenia, osteopenia and reducing the risk of avasculer osteo necrosis, especially in children and young adults. The aim of this study is to draw attention to this rare disease and increase awareness. Material and Methods: All medical records of 8 patients diagnosed with Gaucher disease between 2008 and 2020 in our clinic were reviewed. Result: Five of the cases were female (62.5%), average age at diagnosis; was 7.9 years. When complaints at the time of admission are examined, we found that, 3 patients admitted with swelling in the abdomen, one admitted with abdominal pain, and 4 patients had been referred to our center due to organomegaly detected during the examination. In physical examination 8 patient had splenomegaly. The mean level of glucocerebrosidase enzyme of the patients was found to be 0.61mmol/l/h (normal range of glucocerebrosidase >3.2mmol/l/h). Considering the genetic analysis of the patients, 5 patients had homozygous and 3 patients had heterozygous mutations. One patient with portal hypertension who did not respond to enzyme replacement therapy at the time of admission underwent liver transplant. Conclusion: Early diagnosis and treatment are important to live with in mind that this disease, which is rare in societies where consanguineous marriage is common and can result in serious morbidity and early death, can be seen more frequently.

Sayın editör, Hatice Köse ve ark.nın[1] Cağdaş Tıp Dergisi’nin 2018 yılı ikinci sayısında (Cağdaş Tıp Dergisi 2018;8(2);165-167) yayımlanan“Erişkin bir visseral leishmaniazis olgusu:Tanı ve tedavi seçeneklerinin irdelenmesi: Olgu Sunumu” başlıklı olgu sunumunu ilgi ile okudum. Bu olgu sunumu ülkemizde ateş, pansitopeni ve hepatosplenomegalisi olan hastalarda mutlaka vissera leishmaniazisin hatırlanmanmasını vurgulaması yönüyle değerli bir calışmadır. Bizim de İnönü Universitesi Tıp Fakultesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Birimi’nde daha önce izlediğimiz lieshmania hepatitli olgumuzu, çocuk hastalarda da uzamış ateş, karın şişliği, halsizlik, iştahsızlık, hepatosplenomegali, lökopeni, trombositopeni ve hepatit gibi bulgularla karşımıza çıkabileceği konusunda dikkatli olunması gereğini vurgulama amacıyla özetlemek istiyorum. Üç yaşında erkek hasta yaklaşık beş aydır devam eden halsizlik, iştahsızlık, ateş ve karın şişliği şikâyetleri ile kliniğimize başvurdu. Özgeçmiş ve soy geçmişinde özellik olmayan hastanın fizik muayenesinde genel durumu orta, düşkün, cilt rengi soluk, kalp ritmik, solunum sesleri doğal, karaciğer kot altında 8 cm ve sert, dalak kot altında 10 cm ele geliyordu ve nörolojik muayenesi normaldi. Tam kan sayımında WBC:3,5 (103/M), HGB:9,3 g/dL, PLT:129 (103/M), INR:1, biyokimyasında total protein: 7,9 g/dL, albümin:3,2 g/dL, total bilirun: 0,7 mg/dL AST: 127 U/L, ALT 94 U/L olarak geldi. Abdominal USG’de karaciğer kraniokaudal 9 cm boyutta, homojen parankim ekosunda olup konturlar düzenli izlendi. İntrahepatik safra yolları normal izlendi. Ana portal ven ve hepatik venler ve dalları normaldi. Dalak kraniokaudal 10 cm boyutta, homojen parankim yapısında olup konturları düzenli idi. Dinamik BT’de karaciğer kraniokaudal 2 cm boyutta, homojen parankim yapısında konturları düzenli izlendi. Hepatik ve portal ven normal izlendi. Portal ven ve splenik ven ektaziktir. Pankreas izlenen kesitlerde homojen parankim yapısında ve normal boyutta izlendi. Dalak 14,5 cm (SM) boyutta, homojen parankim yapısındadır olarak rapor edildi. Pansitopenisi olan hastaya kemik iliği yapıldı ve kemik iliğinde leishmania görüldü (Resim 1). Hastaya antimon içeren 10-20 mg/kg/g glucantim başlandı. Üç hafta sonunda halen klinik düzelme olmaması üzerine 3 mg/kg lipozomal amfoterisin B 0. 1. 2. 3. 4. ve 10. günlerde günde tek doz olmak üzere, toplam 18 mg/kg dozunda uygulandı [2]. Herhangi bir yan etki ile karşılaşılmadı. Klinik ve laboratuvar değerleri düzelen hasta ayaktan takip edilmek üzere taburcu edildi. İzleminde hastanın splenomegalisi 6 ay sonra düzeldi. Zoonotik bir enfeksiyon olan visseral leishmaniasisin ana rezervuarı köpekler ve kemiricilerdir. Akut başlangıçlı hastalıkta ateş yüksekliği, iştahsızlık, halsizlik, solukluk ve karın şişliği en sık başvuru nedenlerindendir. Fizik muayenede en belirgin bulgu ileri boyutlara ulaşabilen dalak büyüklüğüdür. Yurdumuzda, çocukluk çağında yapılan leishmaniasis araştırmalarında hepatosplenomegali %97,7-99 oranında, solukluk ise %50-99 oranında saptanmıştır [3]. Bu nedenle özellikle splenomegalisi ön planda hepatitik tabloda gelen hastalarda ateş de varsa VL düşünülmelidir. Bazı olgularda splenomegalinin tedavi sonrası uzun sürede düzeleceği de unutulmamalıdır.

In this study, possible risk factors of gastrointestinal perforations (GIP) that increase mortality after liver transplantation in children were investigated. One hundred and thirty-one pediatric patients who underwent 139 liver transplants between January 2016 and February 2020 were evaluated retrospectively based on preoperative and surgical data. Furthermore, cases with biliary atresia, which constitute 26.7% (35) of the patients, were compared within themselves and with other groups. It was found that the cases that developed perforations were younger, lower in weight, and had higher number of surgeries than those who did not, while the mortality and morbidity rates were higher in these patients. When cases with biliary atresia were analyzed within themselves, no significant difference was found between perforated biliary atresia and non-perforated cases in terms of age, weight, and previous surgery. When biliary atresia and other etiologies were compared, biliary atresia cases were found to be transplanted at a younger age, at a lower weight, and this group had a higher risk for perforation. Early laparotomy should be performed in order to reduce mortality in GIPs. Patients that are younger, underweight, previously operated, and using mesh must be closely monitored.

Gastrointestinal perforation (GIP) is one of the most serious complications occurring after liver transplantation (LT), especially in pediatric patients. This study aimed to determine the risk factors affecting mortality in pediatric patients with GIP after LT. GIP developed in 37 (10%) of 370 pediatric patients who underwent LT at our institute. Patients were divided into two groups: alive (n = 22) or dead (n = 15), and both groups were compared in terms of demographic and clinical parameters using univariate analysis. There was no statistically significant difference between groups in either demographic or clinical parameters, except for perforation site (P = 0.001) and median follow-up (P = 0.001). Stomas arose in 17 (45.9%) patients: 76% of patients with stomas and 45% of those without survived (P = 0.052). Kaplan-Meier analysis indicated that patients with stomas had a significantly higher overall survival (P = 0.029) and that patients with duodenal and colonic perforation had a significantly lower overall survival. Multivariate analysis showed that re-perforation was an independent risk factor for mortality (P = 0.035; OR: 17.674; 95% CI for OR: 1.233-253.32). Although there are many options for management of GIP, including primary repair, resection plus anastomosis, and resection plus end or loop ostomy, gastrointestinal diversion is still the best option.

Objective: Gastroesophageal reflux disease (GERD) is believed to be one of the most common complications of congenital heart disease (CHD) in infants though the exact prevalence is not known. In this study, we aimed to investigate GERD symptoms in infants with CHD. Material and Methods: Infant Gastroesophageal Reflux Questionnaire Revised was applied twice for 109 infants with CHD and 81 healthy infants, both with a median age of 5 months, two months apart and data were analyzed. Results: Mean reflux score was 4.81±0.56 (0-23) and 5.1±5.71 (0-24) in the CHD and control groups, respectively (p=0.62). According to ROC curve analysis, we considered a score of 7 (95% CI=53%-76.6%) as being a cut-off value for GERD. Thirteen infants, 7 with CHD (6.42%) and 6 healthy infants (7.40%) had reflux score≥16 (p=0.79). Conclusion: GERD is not more common in CHD than in healthy babies. As the only difference in terms of individual symptom prevalence is in apnea and cyanosis, symptoms of CHD as well, it was concluded that there is a need for more objective methods and new questionnaires to be used for infants with CHD.

Objective Posterior reversible encephalopathy syndrome (PRES) is characterized by typical radiologic findings in the posterior regions of the cerebral hemispheres and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. The aim of this study is to evaluate the clinical and radiological features of PRES in children and to emphasize the recognition of atypical features. Materials & Methods We retrospectively examined 23 children with PRES from Mar 2010-Apr 2015 in Inonu University Turgut Ozal Medical Center in Turkey. We compared the clinical features and cranial MRI findings between underlying diseases of PRES. Results The most common precipitating factors were hypertension (78.2%) and medications, namely immunosuppressive and antineoplastic agents (60.8%). Manifestations included mental changes (100%), seizures (95.6%), headache (60.8%), and visual disturbances (21.7%) of mean 3.6 (range 1-10) days' duration. Cranial magnetic resonance imaging (MRI) showed bilateral occipital lesions in all patients, associated in 82.6% with less typical distribution of lesions in frontal, temporal or parietal lobes, cerebellum, corpus callosum, basal ganglia, thalamus, and brain stem. Frontal involvement was predominant, observed in 56.5% of patients. Clinical recovery was followed by radiologic resolution in all patients. Conclusion PRES is often unsuspected by the clinician, thus radiologists may be the first to suggest this diagnosis on an MRI obtained for seizures or encephalopathy. Atypical MRI finding is seen quite often. Rapid diagnosis and treatment are required to avoid a devastating outcome.

Giriş ve Amaç: Sirotik kardiyomiyopati (CCM) siroz varlığında oluşan kardiyak disfonksiyon olarak tanımlanmaktadır. Pediatrik yaş grubunda sirotik kardiyomiyopati ile ilgili yapılmış çok az sayıda çalışma vardır. Bu çalışmada sirozlu çocuklarda kardiyak fonksiyonlar ile pulmoner komplikasyonları tespit etmek amaçlandı. Gereç ve Yöntem: Bu çalışmada İnönü Üniversitesi Tıp Fakültesi Çocuk Gastroenteroloji Bölümü’nde, Ekim 2011-Aralık 2013 tarihleri arasında retrospektif olarak iki yıllık süreçte izlenen 52 sirozlu çocuk hasta ile yaş ve cinsiyetleri benzer 30 sağlıklı çocuk konvansiyonel, renkli Doppler ve doku Doppler ekokardiyorafik görüntüleme yöntemleriyle değerlendirildi. Bulgular: Çalışmaya alınan 52 olgunun yaş ortalaması 6.5±4.6 yıl, 28’i erkek (%53,3), 24’ü kız (%47,7) idi. Kontrol grubunun yaşlarının ortalaması 6.88±3.04 yıl, 16’sı erkek (%53,3), 14’ü kız (%46,6) olmak üzere toplam 30 idi. Hastaların M-mod değerlendirmelerinde sol ventrikül arka duvarı kontrol grubundan daha kalındı (5.9±1.7 mm ve 5.1±1.8 mm, p:0.03). Renkli Dopplerle mitral kapaktan ölçülen E/A oranı hasta grubunda anlamlı derecede düşüktü (1.46±0.43 ve 1.61±0.46, p: 0.01). Hasta grubu daha uzun izovolümik relaksasyon süresine (48.5±12.5 ms ve 42.6±11.64 ms, p: 0.001) ve daha kısa izovolümetrik kontraksiyon süresine (43.6±9.5 ms ve 48.6±11.6 ms, p: 0.001) sahipti. Hasta grubunda sol ventrikülün miyokard performans indeksi anlamlı olarak yüksekti (0.57±0.13 ve 0.50±0.67, p: 0.02). Hastaların 8 tanesine (%15) hepatopulmoner sendrom tanısı kondu. Hepatopulmoner sendromlu hastaların ekokardiyografik değerlendirilmelerinde, hepatopulmoner sendromu olmayan hasta grubuna göre interventriküler septum diastolik kalınlığı (6,9±1.2 mm ve 6.4±1.8 mm, p: 0.04) ve yavaşlama süresi (154.1± 35.6 ms ve 140.4±39.8 ms, p: 0.03) daha fazla idi. Sonuç: Sirotik çocuklarda başta diyastolik disfonksiyon olmak üzere kardiyak disfonksiyon vardır. hepatopulmoner sendromlu grupta bu etkilenme daha fazladır. Çalışmamız doku Doppler ekokardiyografinin, hastalık progresyonunun saptanması ve izlenmesi için yararlı bir yöntem olduğunu göstermektedir.

NCs occur commonly after solid organ transplantation and affect 15%-30% of liver transplant recipients. The aim of this retrospective study was to evaluate the type and incidence of neurologic events in pediatric patients following LT. Between May 2006 and June 2015, 242 patients (118 females, 124 males) requiring LT for different etiologies at the nonu University Liver Transplantation Institute were included. The incidence, types, and risk factors of NCs that occurred following LT were evaluated retrospectively. Neurologic events occurred in 57 (23.5%) of the patients. Early NCs were encephalopathy (12.4%), seizures (11.5%), and PRES (7%). Of 57 patients, five (8.7%) experienced NCs at least 1 month after LT; these late NCs included tremor, headaches, encephalopathy, ataxia, and neuropathy. The psychiatric symptoms after LT were noted in 42 patients (17.4%). The mortality rate after LT in those with or without neurological events was not significantly different (P=.73). There was a high incidence of serious neurologic events after LT. The major neurologic manifestation in our patients was encephalopathy followed by seizures.

Numerous drugs cause hepatotoxicity clinically or biologically. Neuropsychiatric drugs constitute 16% of these drugs. The occurrence of hepatotoxicity induced by the use of olanzapine is expressed by the researchers. In such cases, generally the dose of olanzapine is reduced or the drug is completely discontinued and the treatment of the patient fails. The aim of this study is to report the case for whom elevated liver enzymes were observed but the process was managed without changing treatment dose and drug and to discuss this case with literature information. The present study has characteristics of being the first in the literature concerning management of the process.

Geliş Tarihi: 28.03.2017 • Kabul Tarihi: 07.04.2017 İletişim: Serkan Fazlı ÇELİK Sağlık Bilimleri Üniversitesi Kayseri Eğitim ve Araştırma Hastanesi, Emel Mehmet Tarman Çocuk Hastalıkları Kliniği, Çocuk Kardiyolojisi Bölümü, Kayseri,Türkiye•E-mail: docser2003@yahoo.com miyokardiyal disfonksiyonun yavaş ilerleme ile sonuçlanan fonksiyonel ve yapısal miyokardial değişikliklerine sirotik kardiyomiyopati (CCM) denmektedir (1). Tanı kriterleri: GİRİŞ

OBJECTIVES Wilson disease is a rare genetic disease with clinical and histopathologic differential diagnostic challenges. In this study, we evaluated the histopathologic findings of explanted livers in Wilson disease, with special emphasis on copper histochemistry. MATERIALS AND METHODS Our study group was recruited by reviewing archived histopathology reports and the liver transplant clinic patient records retrospectively for patients who had liver transplant for Wilson disease between January 2010 and June 2015, at Turgut Ozal Medical Center. Archival slides were reevaluated. When needed, relevant clinical and laboratory data were obtained from patient medical records. RESULTS During the selected period, there were 33 patients fitting the study criteria (22 male, 11 female, mean age of 22 ± 11 y). All patients had mild to moderate septal inflammation. We found that 29 patients (88%) showed glycogenated hepatocyte nuclei and 27 patients (79%) showed nuclear pleomorphism. Other histopathologic findings were cholestasis (48%) and macrovesicular steatosis (39%). There was no special finding in hilar regions except for 2 patients who had recanalized portal vein thrombosis. In terms of copper histochemistry, 2 copper stains, Timm silver sulfide and rhodanine, were performed in all cases, with orcein staining only done for 25 of the cases. Positivity rates for these copper stains were 85%, 82%, and 36%. Periodic acid-Schiff-diastase- and periodic acid-Schiff-positive granules were detected in 7 of 33 patients (21%). Iron deposition was seen in 12 patients (focal and/or minimal in 11, more than focal in 1). There was no dysplasia or malignancy in any of the patients. CONCLUSIONS On routine hematoxylin and eosin-stained slides, detection of glycogenated hepatocyte nuclei and the finding of the nuclear pleomorphism should alert the pathologist for the possibility of Wilson disease, especially with cryptogenic liver disease. Timm stain is a more convenient histochemical stain in revealing copper deposition in liver.

Objective: This study aimed to evaluate strain and strain rate echocardiography in children with Wilson's disease to detect early cardiac dysfunction.Methods: In this study, 21 patients with Wilson's disease and a control group of 20 age-and gender-matched healthy children were included. All the patients and the control group were evaluated with two-dimensional (2D) and colour-coded conventional transthoracic echocardiography by the same paediatric cardiologist using the same echocardiography machine (Vivid E9, GE Healthcare, Norway) in standard precordial positions, according to the American Society of Echocardiography recommendations 2D strain and strain rate echocardiography were performed after the ECG probes of the echocardiography machine were adjusted for ECG monitoring. Longitudinal, transverse and radial strain, and strain rate were assessed from six basal and six mid-ventricular segments of the left ventricle, as recommended by the American Society of Echocardiography.Results: Left ventricular wall thickness, systolic and diastolic diameters, left ventricular diameters normalised to body surface area, end-systolic and end-diastolic volumes, cardiac output and cardiac index values were within normal limits and statistically similar in the patient and control groups (p > 0.05).Global strain and strain rate: the patient group had a statistically significant lower peak A longitudinal velocity of the left basal point and peak E longitudinal velocity of the left basal (VAbasR) point, and higher global peak A longitudinal/ circumferential strain rate (GSRa) compared to the corresponding values of the control group (p < 0.05). Radial strain and strain rate: end-systolic rotation [ROT (ES)] was statistically significantly lower in the patient group (p < 0.05). Longitudinal strain and strain rate: end-systolic longitudinal strain [SLSC (ES)] and positive peak transverse strain (STSR peak P) were statistically significantly lower in the patient group (p < 0.05).Segmental analysis showed that rotational strain measurement of the anterior and lateral segments of the patient group were statistically significantly lower than the corresponding values of the control group (p < 0.05). Segmental analysis showed statistically significantly lower values of end-systolic longitudinal strain [STSR (ES)] of the basal lateral (p < 0.05) and end-systolic longitudinal strain [SLSC (ES)] of the basal septal segment (p < 0.05) in the patient group.End-systolic longitudinal strain [SLSC (ES)] and positive peak transverse strain (STSR peak P) were statistically significantly lower in the patient group (p < 0.05). Segmental analysis showed statistically significantly lower values of end-systolic longitudinal strain [SLSC (ES)] of the mid-anterior and basal anterior segments (p < 0.05), end-systolic longitudinal strain [STSR (ES)] measurements of the posterior and mid-posterior segments, end-systolic longitudinal displacement [LDC (ES)] of the basal posterior, mid-posterior and mid-antero-septal segments in the patient group.Conclusion: Cardiac arrhythmias, cardiomyopathy and sudden cardiac death are rare complications but may be seen in children with Wilson's disease due to copper accumulation in the heart tissue. Strain and strain rate echocardiography is a relatively new and useful echocardiographic technique to evaluate cardiac function and cardiac deformation abnormalities. Our study showed that despite normal systolic function, patients with Wilson's disease showed diastolic dysfunction and regional deformation abnormalities, especially rotational strain and strain rate abnormalities.