Thalassaemia intermedia - the most common complications and treatment

Бета таласемия интермедия е заболяване с разнообразен клиничен фенотип, който може да варира между Таласемия майор (ТМ) и Таласемия минор. Възможно е и клинично припокриване между тези три състояния. Случаи на ТИ са описани за първи път през 1955 год. като „твърде тежки,за да бъдат наречени минорни форми и твърде леки, за да се причислят към Таласемия майор` от Риети-Грепи-Микели. Пациентите могат да бъдат напълно асимтоматични до късна възраст, проявявайки само лека анемия и поддържайки самостоятелно хемоглобинови нива около 70-100 g/L. В извънредни случаи се прилагат хемотрансфузии. От друга страна пациентите с по-тежки форми на ТИ се презентират в по-ранна възраст (2-6 год.) и също могат да преживеят без редовни трансфузии, но това ще доведе до изоставане в растежа и физическото развитие на тези деца. Разнообразната клинична изява на ТИ изисква индивидуален терапевтичен подход към всеки пациент. Въпрки наличието на разнообразни препоръки лечението все още представлява предизвикателство за всеки хематолог.The clinical phenotype of thalassaemia intermedia (TI) lies between those of thalassaemia minor and major, although a clinical overlap between the three conditions is also possible. TI was first described in 1955 by Rietti-Greppi-Micheli, who explained that those patients are `too haematologically severe to be called minor, but too mild to be called major`. TI has a wide clinical spectrum. Some of the patients could be completely asymptomatic until adult life, manifesting only mild anaemia and managing to maintain haemoglobin (Hb) levels between 7-10 g/dL. At some point they could require only occasional blood transfusions. The more severe cases of TI usually present between 2 and 6 years. They are also able to survive without regular transfusion therapy, but the growth and development of those children would be delayed. The broad clinical spectrum of TI requires an individualised treatment approach to those patients. Regardless of the fact that multiple treatment options are possible, the treatment of TI is still a challenging task for every haematologist

ABDUCENS NERVE PALSY AND THROMBOSIS OF THE CEREBRAL VEINS AND SINUSES - A DIAGNOSTIC PITFALL

Thrombosis of the cerebral veins and sinuses is an infrequent cerebrovascular disorder. Because the highly variable symptoms, recent neuroimaging plays a key role in the diagnosis. Abducens nerve palsy as a focal neurological deficit is a rare clinical manifestation in these patients. We present two cases with sudden onset of diplopia and headache. Case 1: A 3-year old girl with B cell lymphoblastic leukemia developed bilateral abducens deficit and bilateral optic disc edema after treatment including L-asparaginase. Thrombosis of the right jugular vein, sagittal and right sigmoid sinuses was visualized on magnetic resonance imaging (MRI) and magnetic resonance venography (MRV). Symptoms gradually resolved after treatment with enoxiparine and MRV demonstrated recanalization.Case 2: A 75-year old female with medical history of arterial hypertension presented with headache and sudden left abduction deficit. Computerized tomography (CT) scan was normal. MRI and MRV revealed aging brain and disruption of venous flow at the left internal jugular vein, suspecting thrombosis. Extracranial colour duplex sonography and CT angiography proved haemodinamic equivalent of left internal jugular vein thrombosis due to sclerotic pathology of aortic arch.Our first case illustrates the role of improved neuroimaging techniques as the best method for diagnosis of cerebral veins and sinuses thrombosis, presenting with abducens nerve palsy. With second case the potential neuroimaging pitfalls concerning the accurate diagnosis of these cerebrovascular disorders with neuro-ophthalmologic manifestation are discussed

Treatment of Childhood Acute Myeloid Leukemia in Bulgaria

Background: During the last four decades the prognosis of childhood acute myeloid leukemia (AML) has been substantially improved due to an increase in complete remission (CR) rates, event-free survival (EFS) and reduced early mortality. The relapsed AML still remains a therapeutic challenge

Втора научна сесия за преподаватели и студенти 3-4 Октомври 2013, Варна

Варненски медицински форум (Varna Medical Forum) V. 2, Suppl 3(2013