Growth hormone deficiency and multiple Enchondromatosis (Ollier disease) in a boy with short stature

We present a boy diagnosed and treated with growth hormone (GH) for isolated GH deficiency. During 2 year follow up he did not catch up in both height and weight. Although there was no skeletal disproportionality, nor any other complaints, his walk began changing and lower limbs deformity appeared (genua vara). Extensive skeletal radiological survey found multiple enchondromatosis (knees, iliac bones) and Ollier disease was diagnosed. There is no specific treatment for this condition, but its presence questions future GH therapy. The poor response to growth hormone treatment and the risk of developing malignant transformation in the future raises the important questions of the real benefits and the possible harms of its maintenance

A rare case of campomelic dysplasia: a case report

We report an uncommon case of campomelic dysplasia in a24-year-old patient nuliparva, pregnantin 38g.w. with breech presentation, admitted at the Specialized Obstetrics and Gynecology Hospital. The ultrasound Examination visualized Intrauterine Growth Retardation (IUGR) as well as severe angulation and rhizomelic Short ening of the femur and tibia. Those ultrasonography features suggested the presence of campomelic dysplasia. After aplanned Cesarian section, a female baby was delivered, weighing 2250 gr. Thepostnata lX ray was managed and the diagnosis was confirmed without other abnormallites. The genetic testing established normal karyo types of the parents and we suggested the new SOX9 mutation of the baby. No individual Feature is pathognomonic of this condition, however the most typical characteristic sign of campomelic Dysplasiais the marked anterior bowing of the long bones, particularly of the femur and tibia.Scripta Scientifica Medica 2011;43(2):73-7

Ileal substitution of a radiologically injured duplex female ureter via novel antireflux technique

A 34-year-old female patient underwent total hysterectomy and pelvic irradiation for uterine malignancy, which led to iatrogenic fibrotic injury of the distal ureter. Reconstructive surgery was performed, and the ureter was replaced by an isolated ileal segment. Ureteroileal anastomosis was created using the antireflux serous-lined extramural tunnel technique, while the distal end of the isolated ileal segment was widely anastomosed with the bladder. Within a 1-year follow-up, excellent results were achieved, with complete recovery of the patient's renal function and previous quality of life. This technique could be a viable option when large ureteral defects are encountered

Ultrasound diagnosis of congenital kidney anomalies in childhood

Вродените аномалии на отделителната система в детска възраст са честа патология в детската нефрология. Познаването на клиничната им проява и възможностите за диагностика определят своевременно поставяне на диагнозата и е профилактика на хроничното бъбречно заболяване. Ултразвуковото изследване дава възможност за диагностициране на някои аномалии на бъбреците още след 20 г.с., както и постна-тално. Аномалии като бъбречна агенезия, хипоплазия, хидронефроза, нарушения в структурата и позицията на бъбреците имат характерен ехографски образ. Ултразвуковото изследване е водещо в алгоритъма от образни изследвания в диагностиката на аномалиите на бъбреците в детска възраст. То се наложи като рутинно в клиничната практика. Всички деца на 6-месечна възраст подлежат на ултразвуково изследване на отделителната система с оглед търсене и откриване на аномалии. Доказването им определя правилния терапевтичен подход: оперативно лечение при необходимост или проследяване с цел профилактика на инфекциите на пикочните пътища.Congenital anomalies of the excretory system in childhood are a common pathology in pediatric nephrology. Knowing the clinical manifestations and the diagnostic opportunities leads to a timely diagnosis and prophylaxis of chronic kidney disease. Ultrasound examinations allow diagnosis of some kidney abnormalities after as early as 20 weeks of age, as well as postnatally. Anomalies such as renal agenesia, hypoplasia, hydronephrosis, structure and position disturbances have a characteristic echographic pattern. Ultrasound research is leading in the algorithm of medical imaging studies in the diagnosis of kidney anomalies in childhood. It has become routine in clinical practice. All children at 6 months of age are subject to ultrasound examination of the urinary system to search for and detect anomalies. Discovering them defines the right therapeutic approach: operative treatment as needed or follow-up prevention of urinary tract infections. It has become routine in clinical practice

Ultrasound diagnostics of congenital kidney anomalies in children

Вродените аномалии на отделителната система в детска възраст са честа патология в детската нефрология. Познаването на клиничната им проява и възможностите за диагностика определя своевременно поставяне на диагнозата и е профилактика на хроничното бъбречно заболяване. Ултразвуковото изследване дава възможност за диагностициране на някои аномалии на бъбреците още след 20 г.с., както и постнатално. Аномалии като бъбречна агенезия, хипоплазия, хидронефроза, нарушения в структурата и позицията на бъбреците имат характерен ехографски образ. Ултразвуковото изследване е водещо в алгоритъма от образни изследвания в диагностиката на аномалиите на бъбреците в детска възраст. То се наложи като рутинно в клиничната практика. Всички деца на 6 месечна възраст подлежат на ултразвуково изследване на отделителната система с оглед търсене и откриване на аномалии. Доказването им определя правилния терапевтичен подход: оперативно лечение при необходимост или проследяване с цел профилактика на инфекциите на пикочните пътища.The congenital anomalies of the excretory system in children are a frequent pathology in pediatric nephrology. The proper understanding of their clinical presentation and the diagnostic possibilities determines the timely diagnosis, and acts as chronic kidney disease prevention. Ultrasound diagnostics provide the possibility of diagnosing some kidney anomalies even after the 20th gestational week, as well as postnatally. Anomalies such as renal agenesis, hypoplasia, hydronephrosis, and impairment of the structure and position of the kidneys have a characteristic ultrasound image. Ultrasound diagnostics have a major role in the algorithm of imaging studies when diagnosing kidney anomalies in children. They have become routine in clinical practice. All 6-month-old children are subjected to ultrasound diagnostics of the excretory system with the aim of searching and discovering possible anomalies. Their diagnosis determines the proper therapeutic approach: surgical treatment, if needed, or monitoring with the aim of preventing urinary tract infections

Unilateral proptosis: a diagnostic clinical and neuroimaging challenge

INTRODUCTION: The differential diagnosis of unilateral proptosis includes tumors, infections often related with immunological process, trauma, vascular diseases or axial myopia.CASE REPORTS: We present two patients with unilateral proptosis. A 34-yeard old caucasian man with a 3-months history of proptosis of the left eye with diplopia and normal visual acuity; initial CT scan examination showed highly suggestive finding for orbital apex tumor or glioma of the optic nerve, but a second CT scan with complementary projections was performed and a highly swollen inferior rectus muscle simulating an orbital apex tumor was visible. A diagnosis of unilateral thyroid ophthalmopathy was made. A 56-year old caucasian woman with unilateral exophthalmus and medical history of Graves’ hyperthyroidism; previously Graves’ ophthalmopathy was suggested. Fundoscopy showed myopic fundus. The CT scan revealed normal extraocular muscles without swollen.CONCLUSION: These two cases of unilateral proptosis are described because of their clinical and radiological differential diagnosis. We suggest that the accurate diagnosis of a unilateral proptosis remains a big challenge to the neuroophthalmologist, endocrinologist, immunologist, neurosurgeon and radiologist

Arterial spin labeling MRI - clinical applications

Arterial spin labeling (ASL) is a modern magnetic-resonance technique for evaluation of brain perfusion. One of its most important advantages is that there is no need for an injection of an exogenous contrast material. ASL generates an image by magnetically `labeling` water molecules in arterial vessels. Thus, ASL is an alternative to the invasive techniques requiring intravenous contrast medium, and in some cases, it even proves to be a better choice. There is a wide clinical application for ASL, ranging from stroke, brain neoplasms and vascular malformations, to neurodegenerative and psychiatric disorders

MRI features of cerebral small vessel disease

Cerebral small vessel disease affects brain vessels with the smallest caliber - small arteries, arterioles, venules, capillaries. There is strong association with cognitive impairment, dementia, psychiatric conditions, gait disturbances. The main markers of cerebral small vessel disease in neuroimaging are white matter hyperintensities, lacunes, microbleeds, enlarged perivascular spaces - all of which long considered to be of a separate etiology and pathogenesis. Today we have enough reason to believe that they are part of the same pathological process, in which the main role is played by the endothelium. Advances in neuroimaging allow us to give more attention to cerebral small vessel disease - an extremely important scientific and social problem.Cerebral small vessel disease affects brain vessels with the smallest caliber - small arteries, arterioles, venules, capillaries. There is strong association with cognitive impairment, dementia, psychiatric conditions, gait disturbances. The main markers of cerebral small vessel disease in neuroimaging are white matter hyperintensities, lacunes, microbleeds, enlarged perivascular spaces - all of which long considered to be of a separate etiology and pathogenesis. Today we have enough reason to believe that they are part of the same pathological process, in which the main role is played by the endothelium. Advances in neuroimaging allow us to give more attention to cerebral small vessel disease - an extremely important scientific and social problem

Pulmonary Langerhans cell histiocytosis - a rare type of a rare disease

Introduction: Langerhans cell histiocytosis is a rare disease (0.4 in 100,000) with a still highly debated aetiology - either a reactive or a neoplastic process. It is most commonly divided into single-system and multisystem disease. The pulmonary form is part of the former group and occurs mostly in adolescent and adult smokers (2nd through 4th decade of life).Aim: The aim of this report is to provide more clinical data of one rarely documented disorder.Materials and Methods: We present a 42-year-old male patient with a respiration-associated pain of unknown origin. His physical examination was unremarkable. A CT scan was indicated, revealing multiple thin-walled cystic lesions and multiple small nodules in the pulmonary parenchyma, predominantly in the middle and upper lung segments, which was suggestive of pulmonary Langerhans cell histiocytosis. Through a video assisted thoracoscopy, several of the nodules were resected and sent for biopsy.Results: The patient was discharged on the day after the operation. The biopsy confirmed the diagnosis of Langerhans cell histiocytosis. Since systemic corticosteroids were contraindicated in this particular case, the patient was counseled to cease smoking. On the follow-up CT a tendency for a reversal of the condition was observed.Conclusion: The pulmonary form of Langerhans cell histiocytosis is a rare disease, most commonly seen in relatively young smokers with non-specific presentation. The biopsy is the only definitive diagnostic procedure. The disease may resolve spontaneously or after smoking cessation. In more severe cases corticosteroids, chemotherapy or lung transplantation may be considered