Investor Presentaiton

IJMS INTERNATIONAL JOURNAL of MEDICAL STUDENTS 11th WIMC s68 Abstracts Abstracts nous. Manifestation of the disease is related to the affected organ and can include mass effects from tumor size, hormone secretion and malignancy. Diagnosis is mostly accidental. Case: The present study reports a case of MEN 1 associated with juvenile cerebral palsy. A 37-year-old male patient with MEN1 has exhibited major clinical manifestation of MEN 1, such as prolactinoma, hyperparathyroidism and insulinoma. 16 years ago he was successfully operated, and prolactinoma tumor and two enlarged parathyroid glands were re- moved. There were no signs of malignancy in the removed material. Since then patient has been under pharmacological treatment with Bromergon due to prolactinoma and Diazoxide due to insulinoma. Patient has not expressed any complications of cerebral palsy such as physical disability or mental retardation. The patient stays under the surveillance of the Department. In July 2014 he was admitted to the Department of Endocrinology and Internal Medicine in Warsaw due to a loss of consciousness. Considering the patient's whole cli- nical picture, it seems that the fainting might have been caused by hypoglycemia in course of viral gastroenteritis. Since then, episodes of loss of consciousness have not occurred. In physical examination, there were no signs of arrhythmia, recent neurological symptoms or hypoglycemia episodes. Morning prolactin level was at 15,75 ng/ ml. Abdominal ultrasound showed no new lesions in the pancreas in comparison to ultrasound 2 years ago. Laboratory tests showed an increased calcium and parathormone level, even though the patient had no signs of hypercalcemia. In parathyroid ultrasound a lesion (which seems to be enlarged lower right parathyroid) was present. Further treatment recommendations for the patient included a sur- gery and more tests. Conclusions: Described clinical case shows an extremely rare example of MEN 1 associated with previous childhood disease. MEN 1 is a promising model to understand endocrine and other tumors. To the best of our knowledge, there have not been any report of MEN 1 associated with cerebral palsy 19 Fabry Disease In Patient With Previous Wrong Diagnosis Olga Chrząstek Medical University of Warsaw Background: Fabry disease (angiokeratoma corporis diffusum) is an X-linked recessive disease. It happens due to a defect of alpha- galactosidase resulting in the accumulation of globotriaosylceramide (Gb3) in a lysosomes in variety of cell types. Kidneys, heart and cen- tral nervous system are often affected. Clinical consequences include progressive renal and cardiac dysfunction. Peripheral neuropathy, chronic burning pain felt in hands and feet as well as episodic pain- ful crises and angiokeratoma are described. The condition affects males, however females, who have been described as carriers of the defective gene may exhibit a wide spectrum of symptoms. In Euro- pe the enzyme replacement therapy (ERT) was introduced in 2001. Case: A 49-years old man was admitted to hospital in April 2003 for diagnosis of chronic kidney failure etiology. After many diagnostic examinations, the etiology wasn't found. In anamnesis: from child- hood the patient reported chronic burning pain of hands and feet as well as episodic painful sensations related to temperature change. Because of that the patient had regularly taken various analgetic drugs. The patient's mother presented Osler-Weber-Rendu syndrome and hypertension. At the age of 12, Osler-Weber-Rendu syndrome was histopathologically confirmed in our patient. Since that time, the patient was under the supervision of a rheumatologist, later a hematologist. At the age of 24, because of atrial fibrillation (AF) car- dioversion was performed. Multifocal vascular damage of cerebrum and cerebellum after stroke in November 2002 was presented. Also hypertension was diagnosed. Finally, end stage renal disease was diagnosed in our patient (2006). After 3 years of renal replacement therapy, a-galactosidase A (GLA) activity in leukocytes and plasma has been tested. A decreased level of the enzyme confirmed Fabry disease. That enabled to begin enzyme replacement therapy for his 9-years old daughter who had painful sensations in her hands. In 2007 our patient received renal graft. Conclusions: The aim of this case presentation is to highlight the problem of wrong diagnosis in the past and the consequences arising from it. Atypical symptoms reported by the patient should attract our attention. Also rare di- seases should be taken into consideration especially when causal treatment is available. 20 Torsades De Pointes And A Brain Tumour In A Patient Presen- ting With Seizures Monika Madrova 1; Adam Lukac; Lukas Mach 1,2 1 Masaryk University, Brno, Czech Republic; 2 International Clinical Research Centre, St. Anne's University Hospital Brno, Czech Republic Background: Seizures have been previously described to occur in association with heart rhythm disturbances, but possible underlying pathophysiological links have not been clearly elucidated, and yet prompt identification and treatment of cardiac arrhythmias could reduce morbidity in some patients presenting with new onset of seizures. We report on a patient in whom seizure activity resolved after treatment of a cardiac arrhythmia. Case: A 45-year-old lady was brought to emergency department (ED) after 2 witnessed sei- zure episodes. Her medical history was significant for hypertension treated with bisoprolol, lacidipine, amiloride, and hydrochlorothiazi- de. She had not previously experienced any seizures. Shortly after ED admission another seizure associated with loss of conscious- ness, clonic spams, and urine incontinence occurred. The patient was administered diazepam and urgent computed tomography of brain was performed. This showed hyperdense extra-axial tumour (39x29x25mm) located on apex of the right temporal bone pyramid without perifocal oedema or expansion. Blood tests revealed se- vere hypokalaemia (2.5 mmol/l), and repeated 12-lead ECG recor- dings were significant for QT interval prolongation, and polytopic ventricular ectopic beats. Two more seizure episodes occurred, and at this time 12-lead ECG during the seizure was obtained. Torsades de pointes polymorphic ventricular tachycardia was present throug- hout the seizure episode. Urgent correction of low serum potassium was commenced, and magnesium sulphate was administered. The seizure symptoms subsided with spontaneous conversion to sinus rhythm. No further seizures developed after electrolyte balance res- titution. The patient was discharged from hospital on day 5 from admission, and outpatient neurosurgical consultation was requested Conclusions: Two possible explanations for seizure activity coincided in this patient, intracranial mass, and polymorphic ventricular tachy- cardia. Given the lack of perifocal oedema and brain parenchyma invasion the tumour appeared to be a less likely explanation. Also, the resolution of symptoms after sinus rhythm restoration supported the notion that the arrhythmia was the causative factor. This case highlights the importance of extensive cardiovascular monitoring and full clinical work-up including brain imaging of patients with new onset of seizures. 21 Dystonia: A Problematic Diagnosis Adam Gałczyński, Elżbieta Julia Borys, Katarzyna Stefania Ochyra Jagiellonian University/Medical College Background: Dystonia is a movement disorder that causes sustained muscle contractions, repetitive twisting movements and abnormal postures of the face, neck, trunk, arms or legs. It results from si- multaneous contraction of agonist and antagonist muscles. It can be caused be a genetic disorder or acquired structural lesions, but it can also be induced by drug use, especially by antipsychotics; an estima- ted 1-4% of patients treated with second generation antipsychotics may be affected by this illness. Dystonia is the second most popular (32%) manifestation of a psychogenic movement disorder. Diagnosis is problematic, particularly in cases where many risk factors coexist, but it is crucial for proper treatment and affects the prognosis. Case: A 31-year-old female patient diagnosed with paranoid schizophrenia, with a 12-year history of psychiatric hospitalizations, developed a movement disorder in the course of her treatment. In 2009, she presented to the psychiatric hospital with involuntary head and ex- tremity movements. Due to the use of risperidone, a second genera- tion antipsychotic, a tardive dyskinesia was suspected. Neurological consultation and testing ruled out an organic cause of symptoms. In the course of the following years, the symptoms reappeared in a different form and the diagnosis had to be re-evaluated. In 2011, the patient presented with painful torticollis and twisting arm mo- vements. The symptoms fluctuated and depended on the patient's present emotional state rather than on used drugs. Torsion dystonia and Huntington Disease were ruled out by genetic testing. Neuroi- maging and an EMG of the sternocleidomastoid muscle showed no evidence of a possible organic cause of symptoms. Gait impairment, abasia and astasis contributed to the final diagnosis of dissociative motor disorder in the course of schizophrenia. Conclusions: Patients with psychogenic movement disorders have debilitating symptoms that can lead to long-term disability and seriously affect their quality of life. They require structured and multidisciplinary treatment sup- ported by neurological and psychiatric follow-up. The final diagnosis should be made not only through the exclusion of organic cause, but also with an in-depth analysis of the onset, precipitating factors and presentation of the movement disorder. The patient's acceptance of the psychogenic origin of symptoms is fundamental for the positive outcome of treatment. 22 Hirsutism With Hair-An Syndrome And Features Of Acanthosis Nigricans In 21-Year-Old Female Patient Kamil Wocial, Marta Muszel, Mikołaj Radziszewski Medical University of Warsaw, Department of Internal Medi- cine and Endocrinology, Students' Scientific Group "Endocri- nus" Background: HAIR-AN syndrome is characterized by hyperandroge- nism (HA- elevated concentration of androgens in serum with clini- cal manifestations, such as hirsutism, acne, androgenic alopecia), insulin resistance (IR) and features of acanthosis nigricans (AN- skin condition characterized by areas of dark, velvety discoloration in body folds and creases). It is perceived to appear clinically in ado- lescent women, however, it is diagnosed in adulthood as well. It occurs in 5-10% of women with hyperandrogenism. Case: A 21-year- old woman was admitted to the hospital due to incrementally esca- lating chin and cheeks hair, oligomenorrhoea. She notified fatigue, muscle pain, increased blood pressure's values and weight gain about 30 kilograms over the last three years. She did not report galactorrhoea, blurred vision, drowsiness, sweating and sexual dys- function. On physical examination she presented third degree obe- sity, abdominal skin stretch marks, features of AN around neck. In case of observed hirsutism the patient achieved Ferriman-Gallwey score of 29 points. Differential diagnosis included: hyperprolactine- mia, acromegaly, thyroid disturbances, Cushing's syndrome, ovary and adrenal tumors, non-classical adrenal hyperplasia. Computed tomography scan was performed and no lesions in adrenal glands were found. Results of ambulatory conducted transvaginal ultraso- nography (TV US) showed no abnormalities in ovaries, but diagnostic value of this TV US is questionable. Laboratory studies indicated in- creased concentrations of serum testosterone and insulin, decreased steroid hormones binding globulin level, hypercholesterolemia. Ho- meostasis model assessment insulin resistance (HOMA IR) equaled 16,54. Levels of pituitary hormones, thyroid parameters, cortisol and 17-hydroxyprogesteron were within normal ranges. HAIR-AN was es- tablished as a final diagnosis. Treatment was aimed at decreasing insulin resistance (metformine) and body mass (diet and exercise), performing bariatric surgery has been proposed to take under consi- deration. Conclusions: Hyperandrogenism, AN may be manifestations of malignancies and endocrine disorders such as hypercortisolemia or prolactinemia, so thorough diagnostic procedure is necessary in all cases. Properly performed diagnostic process of hirsutism and AN is necessary in order to find optimal treatment for the patient. 23 Exacerbation of Multiple Sclerosis Induced By Reverse Takot- subo Cardiomyopathy Paulina Głowacka, Maria Gąska, Paulina Karolczak, Dorota Ochijewicz Medical University of Warsaw, 1st Department of Cardiology Background: Takotsubo cardiomyopathy (TTC) is characterized by transient myocardial contractility impairment without significant changes in coronary artery. Clinical presentation of TTC mimics acute coronary syndrome. A rare variant of TTC is reverse TTC in which the basal segments of the left ventricle are akinetic. Case: 43-year-old woman with history of multiple sclerosis (MS) was admitted to the emergency department with dyspnoea, chest pain and the left upper limb numbness. These symptoms were induced by psychical stress. Tnl (2,439ng/ml), CKMBmass (9,3ng/ml) and NTproBNP (5918pg/ml) were elevated. Electrocardiography demonstrated ST segment eleva- tion in V1, V2 leads and ST segment depression in II, III, aVF, V4-V5 leads. The QTc interval was prolonged to 478ms. There weren't signi- ficant changes in coronary arteries. The echocardiography revealed akinesis of basal segments, hypokinesis of middle segments of the left ventricle. The ejection fraction (EF) was 34%. During hospitali- zation we observed improvement of left ventricle function. After 10 days EF increased to 58%. Because of vomiting and nausea compu- ter tomography and lumbar puncture were performed. Patient was consulted by neurologist who excluded recurrence of MS. Patient was also consulted by psychologist. After 7 days hospitalization pa- tient was discharged in general good condition and ACE inhibitors, B-blokers, eplerenone and IPP therapy. Nevertheless two weeks la- ter she was admitted to the hospital with an exacerbation of MS. Conclusions: TTC occurs most often as a response to severe mental or physical stress. As shown in the described case it can also be a trigger aggravating chronic disease. Mental stress in our patient caused symptoms of TTC. After recovery recurrence of MS was ob- served. In the literature one can find cases of neurogenic acute left ventricular failure accompanied by MS. In this case, symptoms of TTC occurred at first and when they resolved the exacerbation of MS was observed. 24 Sarcoidosis An Enemy Hard To Defeat Magdalena Cichocka', Mikołaj Radziszewski', Elżbieta Grabc- zak², MD, PhD 1 Students' Scientific Group "Alveolus", Department of Inter- nal Diseases, Pulmonology and Allergology, Medical Universi- ty of Warsaw 2 Department of Internal Diseases, Pulmonology and Allergo- logy, Medical University of Warsaw Background: Sarcoidosis is a multisystem inflammatory disease of unknown etiology characterized by the presence of non-caseating granulomas. It mainly affects lungs, but may have any extrathora- cic localization. Exclusion of tuberculosis, fungal infection and neo- plastic diseases is mandatory for the diagnosis. Case: A 44-year old man with a history of 18 year-lasting sarcoidosis was admitted to the hospital due to cervical lymphadenopathy and hoarseness for 3 months. The past medical history included hypertension, allergic asthma, third-stage of renal failure, Pott's disease, cataract surgery. He underwent glucocorticoid and methotrexate treatment for sarcoi- dosis and antituberculous therapy for spine tuberculosis. On admis- sion patient was in a good general condition. The enlarged cervical, submandibular and axillar lymph nodes were palpable. A computed tomography scan revealed nodules and mass-like opacities in midd- le parts of the lungs. Laboratory tests showed hypereosinophilia, hipoalbuminaemia, hypergammaglobulinaemia with all antibody classes increase, hypercalcaemia, hypercalciuria. The cancer antigen 19-9 level was increased with no evidence of neoplastic disease. The sputum samples were obtained and bronchoscopy with bronchoal- veolar lavage (BAL), transbronchial needle aspiration of mediastinal lymph nodes and cervical lymph node biopsy were performed. En- doscopy revealed larynx inflammation and congested bronchial mu- cosa. Direct smear and culture of BAL fluid for acid fast bacilli were negative, but sputum samples were thrice positive for Mycobacte- rium abscessus. Candida albicans and Streptococcus species were also detected. The lymph node histopathological examination revea- led non-caseating granulomas. The antimycobacterial treatment was implemented first despite suspected progression of sarcoidosis. Con- clusions: Sarcoidosis treatment should be considered carefully and the complex diagnostic process has to be implemented for exclusion INTERNATIONAL JOURNAL of MEDICAL STUDENTS www.ijms.info • 2015 Vol 3 Suppl 1 www.ijms.info • 2015 Vol 3 Suppl 1 11th WIMC INTERNATIONAL JOURNAL of MEDICAL STUDENTS $69