Duran Arslan

Is plasma exchange effective in prevention of hepatic transplantation in fulminant Wilson disease with hepatic failure

778 W ilson disease (WD) is an autosomal recessive disorder characterized by the accumulation of copper in the body, especially in the liver, brain, kidney, and cornea (1,2). Liver involvement can manifest itself as cirrhosis, chronic active hepatitis, or fulminant hepatic failure (2). Mortality is particularly high in patients in whom fulminant hepatic failure is accompanied by hemolytic crisis (3). Hepatic transplantation is the only treatment for these individuals when copper-chelating agents are insufficient (3,4). Chelating agents such as D-penicillamine and trientine are the primary medications used for treatment (3). Moreover, methods such as plasma exchange (PE) can be lifesaving in the early periods of fulminant hepatic failure when copper should be immediately eliminated from the circulation (3,5). PE is a procedure that involves the removal of patient’s plasma from the blood, substituting a plasma-replacement solution of fresh frozen plasma (FFP) and returning ‘‘treated’’ plasma to the blood circulation. By this procedure, unwanted plasma components are removed and the remaining plasma is returned to the body (6). This procedure can be performed on patients with WD and copper can be removed quickly from the blood. In this way, hemolysis that is caused by the oxidative effects of copper can be eliminated and hepatic functions can be stabilized (4,7,8). PE is effective in treating hepatic encephalopathy and clinical homeostasis in fulminant hepatic failure; it can also eliminate the need for urgent liver transplantation in some cases (5,7–9). We present data on a 9-year-old girl who presented with hemolytic crisis and jaundice. She was diagnosed with fulminant WD in the early phases and avoided having a liver transplant after the successful implementation of PE in our intensive care unit.

Variable clinical presentation in primary lymphoedema: report of two cases.

Lymphoedema is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system. Lymphoedema may be primary or secondary and can be inherited. Primary lymphoedema (primary lymphatic dysplasia) is a chronic oedema caused by a developmental abnormality of the lymphatic system. Primary lymphoedema most commonly affects the lower limbs, but other body parts can also be affected. It can be associated with some specific syndromes (i.e. Hennekam syndrome) and genetic disorders. In this article, we report on two patients with congenital multisegmental lymphoedema and Hennekam syndrome, both primary lymphoedemas.

Gastric signet ring carcinoma in a patient with ataxia-telangiectasia: a case report and review of the literature.

Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency disease characterized by progressive cerebellar ataxia, telangiectasia, sinopulmoner recurrent infections, and cancer susceptibility. Individuals with A-T are known to be at increased risk of certain malignancies including leukemia, lymphoma, and breast and gastric cancer. We present an 18-year-old case of A-T with Hashimoto thyroiditis who admitted with complaints of nausea, vomiting, anorexia, and weight loss. An upper endoscopic biopsy revealed gastric signet ring cell carcinoma. To the best of our knowledge, we report the first case of signet ring cell carcinoma in the patient with A-T. Our experience with occurrence of Hashimoto thyroiditis and gastric signet ring cell carcinoma in the same case of A-T underlines that the clinicians handling A-T must be vigilant about both malignancy and autoimmune disorders.

Orbital myositis associated with focal active colitis in a teenage girl

Orbital myositis (OM) is an idiopathic inflammation of the extraocular muscles in the absence of thyroid disease. The general clinical presentation is acute orbital pain worsened by eye movements. OM is usually idiopathic; the pathophysiology of the disease depends on an autoimmune reaction against the orbital tissue [1–3]. This clinical condition may be associated with several systemic diseases. We reported a child who presented with focal active colitis associated OM.

Cervicothoracolumbar spinal epidural abscess and cerebral salt wasting

BACKGROUND CONTEXT Spinal epidural abscess (SEA) is a rare infectious disease. However, if left unrecognized and untreated, the clinical outcome of SEA can be devastating. PURPOSE To report a rare clinical presentation of a cervicothoracolumbar SEA with cerebral salt wasting (CSW). STUDY DESIGN Case report. METHODS Clinical history, physical and laboratory findings, and magnetic resonance imaging studies of a patient with cervicothoracolumbar SEA and CSW. RESULTS We report the case of a 15-year-old boy with cervicothoracolumbar SEA complicated with CSW and treated with conservative methods. CONCLUSIONS In conclusion, CSW can be seen at the follow-up period of the SEA and the clinicians must be aware of this entity.

Magnetic Susceptibility Changes in the Basal Ganglia and Brain Stem of Patients with Wilson’s Disease: Evaluation with Quantitative Susceptibility Mapping

Objectives: Wilson’s disease (WD) is characterized with the accumulation of copper in the liver and brain. The objective of this study is to quantitatively measure the susceptibility changes of basal ganglia and brain stem of pediatric patients with neurological WD using quantitative susceptibility mapping (QSM) in comparison to healthy controls. Methods: Eleven patients with neurological WD (mean age 15 ± 3.3 years, range 10–22 years) and 14 age-matched controls were prospectively recruited. Both groups were scanned on a 1.5 Tesla clinical scanner. In addition to T1- and T2-weighted MR images, a 3D multi-echo spoiled gradient echo (GRE) sequence was acquired and QSM images were derived offline. The quantitative measurement of susceptibility of corpus striatum, thalamus of each hemisphere, midbrain, and pons were assessed with the region of interest analysis on the QSM images. The susceptibility values for the patient and control groups were compared using two-sample t-test. Results: One patient with WD had T1 shortening in the bilateral globus pallidus. Another one had hyperintensity in the bilateral putamen, caudate nuclei, and substantia nigra on T2-weighted images. The rest of the patients with WD and all subjects of the control group had no signal abnormalities on conventional MR images. The susceptibility measures of right side of globus pallidus, putamen, thalamus, midbrain, and entire pons were significantly different in patients compared to controls (P < 0.05). Conclusion: QSM method exhibits increased susceptibility differences of basal ganglia and brain stem in patients with WD that have neurologic impairment even if no signal alteration is detected on T1- and T2-weighted MR images.

Percutaneous management of bile duct stones in children: results of 12 cases

PURPOSE We aimed to evaluate the effectiveness of percutaneous transhepatic removal of bile duct stones in children. METHODS The study included 12 pediatric patients (4 males, 8 females; age range, 1-16 years; mean age, 6.6 years) who underwent percutaneous transhepatic removal of bile duct stones between September 2007 and December 2015. Demographic data, patient symptoms, indications for interventions, technical and clinical outcomes of the procedure, and complications were retrospectively evaluated. RESULTS Of 12 children, five children with cholelithiasis underwent cholecystectomy subsequently. The overall technical and clinical success rate was 100%. One patient had cholangitis as a complication during the follow-up and was treated medically. CONCLUSION Percutaneous transhepatic removal of bile duct stones is a safe and effective method for the treatment of children with biliary stone disease. It is a feasible alternative when the endoscopic procedure is unavailable or fails.

Neurological features and management of Wilson disease in children: an evaluation of 12 cases

AIM Wilsons disease is an autosomal recessive disorder of copper metabolism which leads to copper overload in different tissues of the body. The aim of this study was to present the neurologic features of Wilsons disease and to assess the clinical course of neurological findings in children receiving anti-copper treatment. MATERIAL AND METHODS Twelve children with a diagnosis of Wilsons disease and findings of central nervous system involvement who were followed up in the Department of Pediatric Neurology and Pediatric Gastroenterology of the School of Medicine at Erciyes University were enrolled in the study. RESULTS The study cases consisted of five boys (42%) and seven girls (58%). The mean age at the time of diagnosis was 9.9±3.4 years (5-15 years). The mean duration of follow-up was 49.0±36.4 months (15-128 months). Neurological findings at presentation included headache in seven cases (58%), tremor in seven cases (58%), dystonia in three cases (25%), ataxia in two cases (17%), dizziness in two cases (17%), numbness in the hands and acute weakness in one case (8%) and syncope in one case (8%). Headache, dizziness, syncope, numbness in hands and acute weakness symptoms resolved completely within six months after receiving treatment. Movement disorders either decreased or remained stable in seven of the eight cases. However, one patient developed progressively worsening dystonia despite to all treatments. CONCLUSIONS Wilsons disease can be manifested with signs and symptoms of central nervous system in the childhood. Wilsons disease should be considered in all children presenting with movement disorders. A complete neurological assessment should be carried out in all cases with Wilsons disease.

Misdiagnosis of gastroesophageal reflux disease as epileptic seizures in children

BACKGROUND Gastroesophageal reflux disease (GERD) can mimic epileptic seizure, and may be misdiagnosed as epilepsy. On the other hand, GERD can be more commonly seen in children with neurological disorders such as cerebral palsy (CP); this co-incidence may complicate the management of patients by mimicking refractory seizures. OBJECTIVE The purpose of our study was to evaluate the clinical features, definite diagnoses and treatment approaches of the patients with clinically suspected GERD who were referred to the division of pediatric neurology with a suspected diagnosis of epileptic seizure. We also aimed to investigate the occurrence of GERD in children with epilepsy and/or CP. METHODS Fifty-seven children who had a final diagnosis of GERD but were initially suspected of having epileptic seizures were assessed prospectively. RESULTS All patients were assigned to 3 groups according to definite diagnoses as follows: patients with only GERD who were misdiagnosed as having epileptic seizure (group 1: n=16; 28.1%), those with comorbidity of epilepsy and GERD (group 2: n=21; 36.8%), and those with the coexistence of GERD with epilepsy and CP (group 3: n=20; 35.1%). Five patients (8.8%) did not respond to anti-reflux treatment and laparoscopic reflux surgery was performed. The positive effect of GERD therapy on paroxysmal nonepileptic events was observed in 51/57 (89.5%) patients. CONCLUSIONS GERD is one of the important causes of paroxysmal nonepileptic events. In addition, GERD must be kept in mind at the initial diagnosis and also in the long-term management of patients with neurological disorders such as epilepsy and CP.

Amino acid levels in children with celiac disease

BACKGROUND & AIM plasma amino acid levels may show differences in regard to physiological changes, diet and diseases. The aim of the study is to measure the amino acid levels in children with celiac disease and compare them with the controls. MATERIAL AND METHODS sixty-two children with classic celiac disease and 62 age and sex matched healthy control were enrolled in this study. Plasma amino acid levels of the children were measured by using tandem mass spectrometry. RESULTS celiac children had significant lower plasma levels of citrülline, glutamine and cystine than control (p.