Goran Roić

Contraception-related deep venous thrombosis and pulmonary embolism in a 17-Year-old girl heterozygous for factor V leiden, prothrombin G20210A mutation, MTHFR C677T and homozygous for PAI-1 mutation: report of a family with multiple genetic risk factors and review of the literature.

We present the case of a 17-year-old girl who suddenly woke up with localized pain in the left groin and the inability to twist her leg. After comprehensive physician and laboratory examinations, deep venous thrombosis with consequent pulmonary embolism was ascertained. She had not experienced any recent trauma, but she had started to take oral contraceptives 6 months prior to the onset of the symptoms. Her parents and sisters had been asymptomatic throughout their lives, but the family history revealed a few thromboembolic accidents. Using DNA analysis, heterozygosity for factor V Leiden, prothrombin gene mutation G20210A and methylenetetrahydrofolate reductase C677T, as well as the homozygous 4G/4G genotype in the plasminogen activator inhibitor 1 were identified in our patient. Subsequently, DNA analysis was performed in all living family members, and multiple factors associated with thrombophilia were discovered. Our case confirms the multifactorial cause of thromboembolic events and emphasizes the importance of oral contraceptive use in the onset of venous thrombosis, especially in teenage females. In addition, this case indicates that teenage females with a family history of thrombosis who are making choices about contraception could most likely benefit from advanced thrombophilia testing.

Acute appendicitis perforated into the bladder

A previously healthy 8-year-old girl presented with a 2-week history of dysuria, lower abdominal pain, microscopic haematuria and leucocytosis with left shift. Intravenous urography demonstrated a laminated calcific density, possibly an appendicolith, in the right lower pelvis (Fig. 1). High-resolution US (Fig. 2A) and CT (Fig. 2B) demonstrated focal bladder wall thickening with a soft-tissue mass protruding into the bladder lumen. At surgery, focal thickening of the bladder wall with the appendiceal stump protruding into the bladder lumen was found. Appendectomy and partial resection of the bladder wall was performed. The major complications of perforated appendicitis are appendiceal abscess formation and peritonitis [1, 2, 3], but as we present in this case, perforation into the bladder lumen is possible.

Ataxia Telangiectasia and Juvenile Idiopathic Arthritis

We report, to the best of our knowledge, the first case of a child with typical ataxia telangiectasia (A-T) who developed juvenile idiopathic arthritis (JIA). The patient was a 15-year-old boy with A-T who presented with noninfectious polyarthritis. A-T is a rare, autosomal recessive disorder characterized by cerebellar atrophy, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and predisposition to cancer. The gene responsible for A-T is the A-T mutated (ATM) gene. Clinical manifestations of the disorder are the result of lacking ATM protein, which is involved in DNA repair, apoptosis, various checkpoints in the cell cycle, gene regulation, translation, initiation, and telomere maintenance. There are a few articles that describe deficiency of the DNA repair enzyme, ATM, in rheumatoid arthritis, but the connection between the absence of ATM protein and JIA has not been presented or studied yet. JIA is a heterogeneous group of diseases characterized by arthritis of unknown origin with onset before the age of 16 years. It is the most common childhood chronic rheumatic disease and causes significant disability. Because immunodeficiency can be part of A-T, infectious arthritis can occur, but chronic autoimmune arthritis in these patients is rare. We report a rare case of a 15-year-old boy with A-T and JIA. This case shows a possible relationship between altered function of ATM protein and the pathogenesis of JIA.

Complicated pyelogenic cyst

Published online: 14 June 2003 Springer-Verlag 2003 A previously healthy 4-year-old girl presented with a 2-day history of pain in the left flank, subfebrility, and leucocytosis with a left shift. The initial US of the left kidney demonstrated an irregular cystic structure with a thickened wall, internal echoes and poor acoustic enhancement (Fig. 1). Follow-up US after antibiotic therapy showed a significantly smaller cyst, a smooth spherical contour, no internal echoes and good acoustic enhancement (Fig. 2a). IVU (Fig. 2b) demonstrated a cyst-like structure that extended directly from the renal pelvis via a narrow isthmus, typical for a type-2 pyelogenic (calyceal) cyst. The aetiology of pyelogenic cysts is not clear, but their formation has been attributed to either a congenital anomaly or rupture of a small cyst or abscess into the calyx or renal pelvis [1, 2]. They are usually small and asymptomatic, but they can have complications,such as the development of milk of calcium and lithiasis; infection is very unusual [3].

Suvremeni pristup noćnom mokrenju u djece

Primarna noćna enureza je čest poremećaj u dječjoj dobi. Etiologija joj je multifaktorska, uz jaku genetičku predispoziciju, u uzrocima dominiraju noćna poliurija, manji funkcionalni kapacitet mokraćnog mjehura i djetetov čvrst san. Novija istraživanja pokazuju da psihičke promjene nisu uzrok, već posljedica noćne enureze. Uzevši u obzir fi ziološko sazrijevanje i uzroke, danas se preporuča aktivno liječenje noćnog mokrenja nakon navršene pete godine života. U članku su iznesene dosadašnje spoznaje o etiologiji primarne noćne enureze u djece, kao i o dijagnostici i suvremenim terapijskim metodama.

PReS-FINAL-2118: Painless contractures of fingers in a female child

We describe a 6-year-old girl with a sudden onset of symmetrical and painless joint contractures of fingers on both hands, without obvious skin changes, following an exercise (roller skating) while she was holding hard for a wall rail. She was first presented to the Department of Neuropaediatrics with the suspected diagnosis of a neuromuscular disorder. During initial patient consultations that included an rheumatologist a marked blood eosinophilia was found. No telangiectasia, calcinosis, megacapillary, sclerodactyly, or mucosal involvements were present. The patient showed neither Raynaud phenomenon nor digital ulceration.