Nystagmus And Beyond: A Rare Ocular Motility Disorder.

Joubert syndrome is a rare autosomal recessive disorder predominantly involving the cerebellar vermis and brain stem. It is characterized clinically by global developmental delay, abnormal ocular movements, hypotonia, ataxia, intellectual disability and neonatal breathing abnormalities. Due to its uncommon and unconventional presentation, its diagnosis is usually delayed. Diagnosis of this atypical disease essentially relies upon the atypical finding of the "molar tooth" sign on Magnetic Resonance Imaging (MRI). We report a case of a 5-year-old boy who presented with abnormal eye movements, regression of milestones and developmental delay. MRI investigation revealed the distinctive molar tooth sign and bat wing shaped 4th ventricle. It requires high levels of clinical suspicion and holistic approach to such children who present with delayed milestones and abnormal eye movements, to reach at early detection and diagnosis of such rare pathologies.

Percutaneous treatment of simple renal cysts with n-butyl cyanoacrylate and iodized oil.

PURPOSE: The aim of this study was to demonstrate the efficacy of n-butyl cyanoacrylate (NBCA) and iodized oil mixture in treatment of simple renal cysts. MATERIALS AND METHODS: Twenty-three patients with 27 symptomatic or large ( > 3 cm) simple cysts were treated by computed tomography (CT)-guided percutaneous aspiration and injection of NBCA and iodized oil mixture. The patients (17 men and 6 women, mean age, 57.2 +/- 10.5 years) were treated with as out-patients. The volume of the treated cysts was calculated with periodic noncontrast enhanced CT examinations 1 and 6 months after the procedure. The procedure was considered successful during follow-up when the diameter of the cyst was measured less than 50% of the initial diameter in CT . RESULTS: The sclerotherapy was technically successful in all patients. The diameter of the cysts ranged between 3.5 and 8 cm (mean, 5.6 +/- 1.3 cm), and 1 and 3.4 cm (mean, 2.1 +/- 0.6 cm) before and after sclerotherapy, respectively (P < 0.001). Average diameter reduction was 62.5% during the follow-up period. The mean follow- up lasted 9.1 months (6-14 months). Flank pain resolved in 20 of 23 symptomatic patients (87%). In three patients, the symptoms decreased slightly. At follow-up CT, the procedure was successful in 25 of 27 cysts (93%). We did not observe any complications related to the procedure. CONCLUSION: Percutaneous sclerotherapy with NBCA and iodized oil mixture was found to be a simple, safe, effective, well tolerated alternative technique for management of simple renal cysts.

[The percutaneous x-ray endoscopic surgery of simple kidney cysts]. / Perkutannaia rentgenoéndoskopicheskaia khirurgiia prostykh kist pochki.

An endoscopical method of treating solitary renal cysts (RC) > 5 cm in diameter has been used in the Research Institute of Urology since 1989. The method implies percutaneous puncture of the cyst controlled by x-ray television or ultrasound, dilatation of the cystostomy fistula, cystoscopy followed by resection or dissection of the cyst wall with a cold knife or electrosurgically. A total of 38 patients with large solitary cysts have been treated. A 6-12-month follow-up revealed no recurrences. Complications of the surgery were not reported. The method is easy to accomplish, effective and well tolerated.

[Significance of a nonionic renographic contrast medium (Iopamidol 300) in the roentgen diagnosis of the kidneys and urinary tract in children]. / Die Bedeutung eines nichtionischen nierengängigen Kontrastmittels (Iopamidol 300) in der Röntgendiagnostik der Nieren und Harnwege bei Kindern.

The ionic contrast media used so far have been associated with considerable risks in infants and children. The high osmolality of these media did not always permit a dosage sufficient for kidney imaging in the nephrographic and in the pyelographic phase. The new non-ionic contrast media have largely reduced these risks so that their general application in infants and young children should be recommended. Intravenous urographies using the non-ionic contrast medium Iopamidol 300 (Solutrast 300) were performed in 195 children aged one day to 12 years. Good to superior urograms were obtained in 85% of the investigations. No adverse reactions caused by the osmolality of the contrast media had been observed in spite of the relative high dosage. As a result of their low osmolality and non-ionic property a safe application of high doses was possible.

Nuclear medicine and complementary modalities in renal trauma.

The diagnosis of renal trauma for many years was achieved through history, clinical findings, the performance of a survey film of the abdomen, urinalysis, excretory urography, aortography, and selective renal artery arteriography. The development of the scintillation camera and the availability of 99mTc, as well as 99mTc labeled pharmaceuticals, approximately fifteen years ago has widened this diagnostic horizon. Exquisite new imaging modalities have become available recently. As a result of constantly improving technology, these techniques--including computed tomography, sonography, with real time enhancement, and digital video subtraction angiography--are utilized more and more frequently. The full impact of these newest wonders is not yet realized. Cost-effectiveness, radiation exposure, accumulative drug side-effects, availability of facilities and personnel and professional and technical training have become major considerations.

Kidney scintigraphy with 99mTc-DMSA and 131I-hippurate.

43 patients underwent an extended scintigraphic procedure with 99mTc-dimercaptosuccinylic acid in order to investigate its proper use for diagnosing morphological and functional kidney abnormalities. The group was comprised of patients without renal disease, and patients with diffuse parenchymal disease, obstructive uropathy, renal cysts and renal tumors. The study was followed by 131I-hippurate renography. We propose a simplified routine procedure with scintiphotos taken 10-15 min after injection for topographic information and 120 min after injection for renal morphology. This procedure allows excellent case finding of diffuse parenchymal disease of a special value in cases of radiological non-visualization. The technique is indicated, when iodine contrast media cannot be used for radiological examinations. DMSA studies, however, do not allow safe functional evaluation in all categories of patients. Neither can obstructive nephropathy be diagnosed unless the renal pelvis is dilated. Renal perfusion studies are contaminated by the perfusion of liver and spleen. Nevertheless, a tentative differentiation between cysts and tumours is possible, the former being hypoperfused the latter hyperperfused. When supplemented with gamma camera 131I-hippurate renography, the total scintigraphic procedure will also include split function determination and run-off evaluation.