Ayşe Aysima Özçelik

Brachial artery pseudoaneurysm: Rare finding in childhood Behcet's disease

Behcet’s disease (BD) is a chronic multisystemic disorder characterized by recurrent oral aphthosis and genital ulcerations, skin lesions and uveitis. It can affect the gastrointestinal tract, musculoskeletal, pulmonary, neurological and cardiovascular systems. All sizes of vessels can be involved, in both of the arterial and venous systems. A 13-year-old girl presented with swelling and pain in the right upper arm for 3 months. She had recurrent oral ulcerations at least 8–10 times for the last 7–8 months. Her parents were first-degree cousins and her paternal aunt had BD. The patient had acneiform lesions on her face. There were no aphthous lesions in the buccal mucosa or genital region. She had an approximately 13 9 9 cm swelling in the right upper arm (Fig. 1a). We noted the lack of right brachial and radial pulses, and loss of deep sensory nerve in the right arm. Pathergy test was negative. Eye examination was normal. Laboratory results indicated high inflammatory markers: white blood cells, 16 900/mm; C-reactive protein, 134 mg/L (normal, 0–5 mg/L); erythrocyte sedimentation rate, 40 mm/h. All rheumatological tests and HLA-B51 were negative. An approximately 10 9 9 cm right brachial artery pseudoaneurysm was detected on Doppler ultrasonography (USG). BD was therefore suspected. We treated the patient with pulse methylprednisolone for 3 days, and subsequently with per oral steroid, azathioprine and colchicine. Median and ulnar motor conduction and ulnar sensory could not be obtained, and minimal median sensorial innervation was detected on electromyography. Magnetic resonance angiography showed an approximately 122 9 84 mm pseudoaneurysm with thrombosis (Fig. 1b). A definite diagnosis of brachial artery pseudoaneurysm was established on conventional angiography (Fig. 1c). Saphenous–brachial bypass was performed. On histopathology, the arterial wall was thickened, with narrowed lumen and neovascularization. There was foamy macrophage and lymphocyte accumulation in the all layers of the artery wall, together with fibrous thickening of the intima, and adventitial fibrosis. The right radial artery had rapid and resistant monophasic flow and the right ulnar artery could not be visualized on Doppler USG. In the fourth postoperative month, the brachial and radial pulses were too slight, and the fingers were slightly cold and mildly cyanotic. The patient had no deep tendon reflexes, especially in the ulnar area, and there was total forearm muscle atrophy together with loss of superficial ulnar sensory nerve. Superficial radial sensory loss was minimal. The patient had no hand dorsiflexion; hand muscle strength was 2/5, extremity muscle strength was 4/5, and she could not move the thumb and index finger, while other fingers had slight movements. In BD, venous lesions are characterized by thrombosis and arterial lesions are characterized by aneurysm, pseudoaneurysm, thrombosis and stenosis. In children, vascular involvement is seen in 7–12% of cases. Combined arterial and venous involvement occurs more often than arterial or venous involvement alone. Ozen et al. reported on seven pediatric patients. Two patients had superficial vein thrombosis, two patients had atrial or ventricular thrombosis, one had arterial involvement with pulmonary aneurysms, and two had thrombosis of the venous sinuses in the central nervous system. In the same article, the disease was diagnosed 3–24 months before the vascular involvement in four patients, and was concomitant with diagnosis in three patients. In the present patient, BD was diagnosed simultaneously with pseudoaneurysm. The present patient did not meet the full International Study Group (ISG) criteria, similarly to most of the pediatric BD patients. The patient did, however, fulfill the International Criteria for BD (ICBD) and new pediatric BD criteria, given that she had recurrent oral aphthosis history, acneiform lesions on the face, and right brachial pseudoaneurysm. With this clinical picture she scored 4 points according to the ICBD system, and 3 points according to the pediatric BD criteria. The patient received immunosuppressive therapy according to the European League Against Rheumatism (EULAR) recommendation for the management of vascular BD. Immunosuppressive treatment should be started in these patients with arterial disease before open surgical or endovascular intervention, and should be continued after the intervention. Long-term immunosuppressive therapy after open surgery or endovascular intervention is important to limit pseudoaneurysm recurrence. In conclusion, arterial vessel involvement is very rare and important in pediatric BD, and brachial artery pseudoaneurysm has not been reported in children. To the best of our knowledge, this is the first report of pediatric BD with brachial pseudoaneurysm in the literature. New diagnostic pediatric BD Correspondence: Beltinge Demircio glu Kılıc, MD, Department of Pediatric Nephrology, School of Medicine, Gaziantep University, Sahinbey, Gaziantep 27310, Turkey. Email: beltingeiklim @hotmail.com Received 30 March 2016; revised 3 August 2016; accepted 15 August 2016. doi: 10.1111/ped.13149

Congenital methemoglobinemia type 2 and cerebellar atrophy/hypoplasia

In methemoglobinemia, patients have higher metHb than the healthy population. It could be congenital, resulting from deficiency of enzymes which convert metHb back to Hb, or acquired as a result of various chemical agents. Two clinical types of recessive hereditary methemoglobinemia have been described. Type I is a benign form in which cyanosis is the sole clinical symptom. In type II, cyanosis is associated with severe progressive neurological disabilities, including mental retardation, microcephaly, and movement disorders [1].

The value of X-ray graphy in the diagnosis of the rhiozomelic chondrodysplasia punctata: a case report

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by typical facial appearances, contracture, proximal shortening of the extremities, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities, clefts of the vertebral bodies and mental retardation. Diagnosis is usually made based on clinical and radiological criteria. Peroxisome functions, such as the red blood cell concentration of plasmalogenes and the plasma concentrations of phytanic acid and very long chain fatty acids are biochemical indicators of RCDP. In this article, we present a case of the rare disorder RCDP manifested as proximal limb shortening, punctuate calcifications of the cartilage, vertebral clefts, cataracts and hypotonia. In conclusion, case with dysmorphic facial appearances, proximal shortening of the extremities, and contractures should be considered RCDP. Furthermore, direct X-Ray findings can contribute to diagnosis.

Aicardi-goutieres sendromu: Bir olgu sunumu

Aicardi- Goutieres Syndrome (AGS), is autosomal ressesive genetic disorder, clinically characterized by microcephaly, cerebral atrophy and white matter abnormalities, intellectual disabilty and motor reterdation, increased cerebrospinal fluid (CSF) lymphocytosis and interferon-alpha (IFN) in blood, intracranial calsification especially at basal ganglia. We should keep in mind Aicardi- Goutieres Syndrome for differential diagnosis while investigating a microcephalic newborn presented with intracrianal calsifications and seizure