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Congenital generalized hypertrichosis, in its most common form, is idiopathic. In the absence of underlying endocrine or metabolic disorders, congenital generalized hypertrichosis is rare in humans, affecting as few as one in a billion individuals and may be an isolated condition of the skin, or a component feature of other disorders or syndromes. Congenital generalized hypertrichosis terminalis is an extremely rare condition, a distinct subset of disorders with congenital hypertrichosis, presenting with excessive hair as the primary clinical feature. Congenital generalized hypertrichosis terminalis is characterized by universal excessive growth of pigmented terminal hair and often accompanied with gingival hyperplasia and/or a coarse face. Gingival hyperplasia may be delayed even until puberty. Its pathogenesis may be caused by one of the following mechanisms: conversion of vellus to terminal hairs and/or prolonged anagenetic stage, and/or increase in the number of hair follicles. Since the Middle Ages, less than 60 individuals with congenital hypertrichosis terminalis have been described, and, according to the most recent estimates, less than 40 cases were documented adequately and defi nitively in the literature. Recent articles identifi ed congenital generalized hypertrichosis terminalis as a genomic disorder. This report is a follow up of a six-year-old boy born from the fi rst normal pregnancy of non-consanguineous parents, starting from delivery. Our investigation revealed a history of: excessive hair growth and a coarse face from birth; increased body weight with high blood pressure and gingival hyperplasia at the age of four months. The parents denied any medication or chemical intake during pregnancy, as well as a history of hypertrichosis in their families. The child had a congenital hydronephrosis of the right kidney. Ultrasound and magnetic resonance imaging revealed severe congenital hydronephrosis of the right kidney and suspicion of hypertrophy of the left adrenal gland suggestive of an adenoma. The follow up showed normal values of hormones which excluded adrenal tumor. At the age of 8 months the patient underwent right-sided nephrectomy after several urinary infections. The child was admitted again to our Clinic at the age of four years, with generalized hypertrichosis, gingival hyperplasia and a coarse face without any other pathological signs. He has had a normal intellectual development, but was extremely shy, unconfi dent and dependent on his mother. The relevant laboratory investigations showed normal full blood count, biochemical, hormonal test results and normal function of the single kidney. Molecular chromosome analysis revealed heterozygous deletion on chromosome 17q12 region. Prolonged follow-up with routine checkups every 6-12 months was advised, including regular outpatient appointments particularly with an endocrinologist, because of the risk of diabetes mellitus, and with a nephrologist, for control of renal function. Laser hair removal was suggested and the patient under...

Background: Myocardial protection in reoperations in cardiac surgery is extremely difficult in patients with previous coronary surgery and a working LIMA-LAD graft, and it largely determines the outcome of surgery and long-term prognosis. We use a the method of percutaneous angiographic balloon LIMA occlusion and cardioplegic arrest. Aims: The aim of this study was to compare the data of patients with angiographic balloon LIMA-occlusion and those without occlusion in operations related to PVE, and previous coronary surgery with permeable LIMA graft, determining the degree of safety and benefits of method. Study design and Methods: A total of 20 patients undergoing surgery for prosthesis valve endocarditis with patent LIMA-LAD graft were analyzed retrospectively. We divide the patients into 2 groups. Group A patients - with LIMA occlusion and Group B patients - without LIMA occlusion). The pre-, intra- and postoperative results were compared and the degree of safety and benefits of the application of the method were studied. Results: 80% of patients in group A needed only dopamine infusion and 20% needed the addition of a second catecholamine (Adrenaline) at the end of CPB. In group B, the need for double catecholamine maintenance is in 50% of patients. The need for implantation of an intra-aortic balloon pump due to refractory heart failure was registered in 10% of patients in group A and in 20% of patients in group B. It was found that the average duration of mechanical ventilation in group A is 10.5 hours postoperatively, and in group B - 12.5 hours. The mean duration of catecholamine infusion in both groups was 3 days. The average stay in intensive care is shorter for patients in Group A - 2.5 days, and in Group B is 3.5 days. In terms of survival - mortality in the group with LIMA occlusion is 0%, while in the group without LIMA occlusion is 20%. Conclusion: Our reported results from the use of the LIMA balloon occlusion method in patients with prosthetic valve endocarditis who are high-risk and complicated patients and nevertheless the mortality in this group studied by us is 0% and no serious complications of the applied method have been registered. Therefore, we believe that the angiographic balloon LIMA occlusion is a reliable, easily applicable and relatively safe technique that improves the surgical results and prognosis of patients in need of reoperative cardiac surgery.

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