The utility of magnetic resonance angiography in children with nutcracker syndrome

Background/aim: The presented study aimed to evaluate the utility of magnetic resonance angiography (MRA) in the pediatric population with nutcracker syndrome. Materials and methods: Patients with suggestive clinical symptoms and laboratory findings and got the diagnosis of nutcracker syndrome with Doppler ultrasonography between January 2011­2019 were included in the study. In addition, children who had renal MRA due to hypertension were evaluated as the control group. MRA images of all patients were examined retrospectively by three radiologists at different levels of experience, and the superior mesenteric artery angle, aorta-mesenteric distance, left renal vein diameter both in the regions of aorta-mesenteric, and renal hilum were recorded. Results: Forty-five patients diagnosed with nutcracker syndrome were included in the study. The mean age of patients was 12 (4­16) and 30 (67%) were female. As the control group, 25 patients with hypertension who had MRA were included and they had a mean age of 12 (1­18) and 19 (76%) were male. The mean superior mesenteric artery angle was 26.5 ° (16­73 ± 12) in the patient group and 57.8 ° (25­139, ± 33) in the control group (p < 0.001); the mean aorta-mesenteric distance was 3.3 mm (1.7­6.5, ± 1.1) in the patient group and 8 mm (3.4­32, ± 5.9) in the control group (p < 0.001). MRA measurements of three radiologists were consistent with each other. Conclusion: MRA imaging can be applied as an alternative diagnostic method for Doppler ultrasonography and multidetector CT examinations by radiologists with different experience levels in pediatric patients with nutcracker syndrome.

Could plasma based therapies still be considered in selected cases with atypical hemolytic uremic syndrome?

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) occurs due to defective regulation of the alternative complement pathway (ACP) on vascular endothelial cells. Plasma based therapy (PT) was the mainstay of the treatment for aHUS for many years until the introduction of therapies targeting blockage of the complement system. The aim of this study was to evaluate patients with aHUS who had been treated with plasma based therapies alone. METHODS: The outcomes of seven genetically confirmed aHUS patients (2 girls, 5 males) were evaluated by means of clinical presentation, response to plasma therapy, course of the disease during the follow-up period and last status. RESULTS: The median age of the patients at admission was 6.7 years (IQR 0.7-7.8). Three patients received plasma exchange therapy and the other four patients were treated with plasma infusions. One patient was lost to follow-up after one year; the median duration of follow-up for other patients was 3.7 years (IQR 2.7-6.5). During the follow up, two patients from our historical records when complement blocking therapies had not been in clinical use yet in Turkey, underwent kidney transplantation. One transplant patient experienced an acute rejection episode without graft loss. The remaining five patients had a glomerular filtration rate of more than 90 ml/min./1.73 m < sup > 2 < /sup > at the last visit. CONCLUSION: Although we had a relatively small patient population, our findings indicate that PT might still be considered in selected patients particularly in countries where complement blocking therapies are difficult to reach due to their unavailability or costs that are not covered by the health care systems.

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.

Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD). In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1. Disease causing mutations have been found in fifteen patients from thirteen families (18%). Novel mutations have been found (c.458T>A (p.L153X), c.733_734delAA (p.Lys245Valfs*11), c.52 C>T (p.L18F)) in three of 13 families. There were 3-year lag time between initial symptoms and the time of PH1 is suspected; additionally, 5.5-year lag time between initial symptoms and definitive diagnosis. Consanguinity was detected in 77% of the patients with mutation. After genetic diagnosis, one patient received combined kidney and liver transplantation. AGXT gene sequencing is now the choice of diagnosis of PH1 due to its non-invasive nature compared to liver enzyme assay. Early diagnosis and accurate treatment in PH1 is important for better patient outcomes.

Is Sinusitis Innocent?--Unilateral Subdural Empyema in an Immunocompetent Child.

Subdural empyema related to Streptococcus constellatus is extremely rare in an immunocompetent child, and also there is no reported case along with Staphylococcus lugdunensis infection. Although Streptococcus constellatus has been determined as a co-pathogen with anerobic bacteria in many infections, it has not been reported in combination with Staphylococcus lugdunensis. The authors describe a case of previously healthy 16-y-old child with unilateral subdural empyema due to these bacteria. Sinusitis was the only predisposing factor in the index case. The authors propose that some cases of culture-negative intracranial infections may be due to these infectious agents. Therefore, these agents should be considered as causes of intracranial infection in persistent complaints such as fever and headache after sinusitis in children. It is important to treat them with effective antibiotics and early surgical intervention for favorable outcome, because fatal cases were reported due to Streptococcus constellatus infections.

An unusual cause of terminal hematuria in a child: Eosinophilic cystitis.

Eosinophilic cystitis is a rare inflammatory disease of the bladder; it rarely occurs in children. Patients typically show irritative urination symptoms frequently, with a possible need for urgency, alongside dysuria, gross haematuria, suprapubic pain and painful urination. Sometimes bladder mass accumulation with the possibility of malignancy is also observed. We present an 8-year-old male patient who gained admission for terminal hematuria and discuss the management of eosinophilic cystitis.