Search

Juvenile dermatomyositis (JDM) is an inflammatory myopathy which causes severe morbidity and high mortality if untreated. In this study, we aimed to define the T-helper cell profile in the muscle biopsies of JDM patients. Muscle biopsies of twenty-six patients (50% female) were included in the study. Immunohistochemical expression of CD3, CD20, CD138, CD68, IL-17, Foxp3, IFN-ɣ, IFN-alpha and IL-4 was studied and muscle biopsies were scored using the JDM muscle biopsy scoring tool. Inflammatory cells were in small clusters in perimysium and perivascular area or scattered throughout the endomysium in most biopsies; however in 2 biopsies, lymphoid follicle-like big clusters were observed, and in one, there was a very dense and diffuse inflammatory infiltration nearly destroying all the muscle architecture. Seventy-three per cent of the biopsies had T cells, 88% had B cells, 57% had plasma cells, and all had macrophages. As for T-helper cell subtypes, 80% of the biopsies were Th1 positive, 92% Th17 positive and 30% Treg positive. No IL-4 positive inflammatory cell was detected, and only 2 biopsies showed IFN-alpha positivity. The mean JDM biopsy score was 17.6, meaning moderate to severe muscular involvement. Visual analogue score of the pathologist was strongly correlated with histopathological features. B cells, macrophages, plasma cells and T cells constitute the inflammatory milieu of the JDM muscle biopsies. As for T cells, JDM is a disease mainly related with Th1 and Th17 T-helper cell subtypes and to some extend Treg. Th2 cells are not involved in the pathogenesis.

Munchausen syndrome by proxy (MSBP) is a rare form of child abuse in which a caregiver deliberately exaggerates, fabricates, and/or induces health problems in those in their care. The condition is extremely difficult to characterize and diagnose, as it manifests in many forms, often confusing the medical team. Insufficient knowledge regarding the syndrome and rare consideration of the differential diagnosis results in failure to recognize the problem. Literature suggests that an increase in physician awareness of the disorder can prevent or reduce its morbidity and mortality. For this reason, we believe that case series can help increase current knowledge on epidemiology, aetiology, diagnostic criteria, advised management of MSBP, and the psychological portrait of the perpetrator. Additionally, no data from Turkey has previously been presented on this issue. This study aimed to report characteristics of MSPB victims and alleged perpetrator, which were diagnosed and managed by a multidisciplinary team.

Hypertrophic osteoarthropathy (HOA) is characterized by clubbing, periosteal new bone formation and polyarthritis. The pathogenesis of clubbing involves an increased expression of platelet-derived growth factor (PDGF) and vascular endothelial growth factor (VEGF) from the digitally lodged platelet clumps, which bypass the pulmonary capillary network as a result of various systemic disorders. Intrathoracic neoplasms are rare causes of HOA in children. We report here a 14-year-old boy with digital clubbing, who eventually received the diagnosis of intrathoracic Hodgkin lymphoma (HL) and HOA. Eight cases previously reported with these two diagnoses are reviewed to emphasize the prognostic significance of HOA in childhood HL. Conclusion: Given the pathogenesis of clubbing and the prognostic significance of HOA, intrathoracic disease should be considered when HOA is detected in a child with a known or suspected malignant disease, and the occurrence of HOA during follow-up should alert the physicians for possible recurrence of the neoplastic disease or intrathoracic involvement.

Acute proliferative glomerulonephritis is characterized by glomerular hypercellularity that can be caused by many different etiologies and pathogenetic mechanisms. A balance between cell birth by mitosis and cell death by apoptosis is crucial. In this study, apoptosis and the regenerative activity (Ki67/apoptosis index) were investigated in acute proliferative glomerulonephritis. Thirty-five children with biopsy-proven acute proliferative glomerulonephritis and five controls with MCD were studied retrospectively. According to the clinical outcome, patients were divided into 2 groups: group 1 (n =21) were patients with normal renal functions at follow-up; group 2 (n =8) were patients with end-stage renal failure or those who died. Immunohistochemical staining of proliferating cells (Ki67) was done. In situ end labeling of DNA was used to evaluate apoptosis. Glomerular cell apoptosis was 45% in the patients with acute proliferative glomerulonephritis and 3% in controls ( p0.001). Apoptotic cells were identified in the tubulointerstitial compartment with higher and heavier immunostaining in patients than controls (p =0.001). Tubular proliferative index (= tubular proliferation/tubular apoptosis ratio) was significantly higher in group 1 patients than in group 2 patients (2.03+/-2% versus 0.32+/-0.6%, p =0.002). Tubulointerstitial regenerative ratio (=tubular proliferation/interstitial proliferation ratio) was significantly higher in controls than in patients (3.4+/-1.9 versus 1.52+/-0.8, p =0.01). In addition, it was significantly increased in group 1 patients when compared with those in group 2 patients (1.89+/-0.8 versus 0.73+/-0.2, p =0.001). Since 17 patients presented with postinfectious proliferative glomerulonephritis, which is known to exhibit better course, we also evaluated those parameters in patients with postinfectious proliferative glomerulonephritis separately. We found statistically significant differences only in the tubulointerstitial regenerative ratio, which was higher in postinfectious cases when compared with those in other cases [1.60 interquartile range (IQR) 1.54 versus 1.22 IQR 1.26, respectively, p =0.003]. In conclusion, tubular proliferative index and tubulointerstitial regenerative ratio might be useful parameters for predicting final functional outcome in acute proliferative glomerulonephritis. Further studies, however, are still needed to clarify the importance of these histopathological parameters.

A 5-year-old boy was admitted to the hospital with complaints of abdominal pain, weight loss (2 kg lost in 2 months) and sweating lasting for 2 months. Past medical history was unremarkable. On physical examination his body temperature was 36.8°C (axillary), and the rest of the physical examination was unremarkable. The peripheral blood count showed a hemoglobin level of 14.2 g/dl, a hematocrit value of 41.7%, a platelet count of 318,000/ mm and a white blood cell count of 5,900/mm with normal differential. No atypical cells were seen in his peripheral blood smear. The erythrocyte sedimentation rate was 31 mm/h, and the serum biochemistries were normal except for a temporary increase in transaminases. Creactive protein was 64.2 mg/l (N: 0–10). Levels of urinary catecholamine metabolites, α-fetoprotein, and β-human chorionic gonadotropin were normal. Bone marrow aspiration revealed hypercellularity, but no malignant infiltration was seen. Abdominal computed tomography and magnetic resonance imaging studies showed a retroperitoneal pararenal soft tissue mass extending to the pre-aortic area and occupying mainly the left surrenal region (Fig. 1). The adrenal gland could not be discerned in the mass. The lesion consisted of cystic and solid components. There were also a few lymph nodes varying from 0.5 cm to 1 cm in size in the para-aortic region. At laparotomy, a 6 cm×5 cm×4 cm retroperitoneal mass was found in the left suprarenal region.

This case report describes congenital nephrotic syndrome in a 2-month-old girl associated with cytomegalovirus infection. Histological examination on renal biopsy showed diffuse mesangial sclerosis and cytomegalic inclusion bodies in the tubular cells and in some glomeruli. Cytomegalovirus (CMV) polymerase chain reaction (PCR) titer in serum was high. Remission of pulmonary and renal symptoms was achieved with ganciclovir in 3 weeks. No recurrence of proteinuria was observed during the follow-up period of 14 months. These finding suggested a causal relationship between congenital nephrotic syndrome and cytomegalovirus infection.

In familial Mediterranean fever (FMF), a genetically inherited disease characterized by fever and serositis, renal involvement is mainly AA amyloidosis. We report a patient with FMF who developed mesangial proliferative glomerulonephritis; presumably in response to colchicine treatment, the activity of the disease decreased and renal function tests and urinary findings normalized. This report emphasizes the concurrent existence of mesangial proliferative glomerulonephritis with FMF in the absence of renal amyloidosis. Due to increased inflammatory response observed in FMF, immunologic glomerular injury, a common cause of glomerulonephritis, may occur more frequently in patients with FMF.

We report a case of acute renal failure due to acute pyelonephritis with microabscess formation. Despite antibiotic therapy renal function deteriorated, necessitating peritoneal dialysis. Although rare, acute pyelonephritis is an important consideration in the differential diagnosis of acute renal failure, and prompt antibiotic therapy is crucial to insure a favourable outcome.

Two patients with phenylketonuria and scleroderma-like skin lesions are presented. Since scleroderma is a rare collagen disease of childhood, the occurrence of these two disorders in the same patient does not seem to be coincidental but raises the possibility of a causal relationship. Improvement in the skin lesions of the patients after the commencement of a low-phenylalanine diet supports this hypothesis.