Posterior reversible encephalopathy syndrome (PRES) is receiving increasing recognition in pediatrics. However, comparisons between PRES in pediatric oncology and post-bone marrow transplantation (BMT) are lacking. Therefore, we aimed to describe the risk factors and clinical and radiological features of PRES and investigate the differences between PRES in pediatric oncology and post-BMT. The PRES data of 13 patients from our center were combined with those of 217 cases from the PubMed, Scopus, and Web of Science databases. The patients were divided into either an oncology or a post-BMT group. We included 230 patients in the analysis, 26.1% of whom belonged to the post-BMT group. Oncology patients developed PRES at a younger age (p = 0.010) and were more likely to develop encephalopathy (p = 0.004). Systemic hypertension (S-HTN) preceding PRES occurred in 43.5% (66/154) of patients. Post-BMT patients were more likely to have S-HTN (p = 0.003). Cyclosporine levels were detected in 37 patients; 40.5% had supra-therapeutic levels. The radiological findings were atypical in 74.3% of patients, and delayed repeated imaging increased the occurrence of resolution (p = 0.004). Sixteen (7%) patients developed PRES recurrence after a median of 8 weeks, with the between-group difference being non-significant. Oncology patients were more likely to develop chronic epilepsy, while BMT patients were more likely to develop rare neurologic abnormalities (p < 0.001). In conclusion, atypical clinical presentation and imaging findings should not hinder the diagnosis of PRES. S-HTN is a risk factor, particularly in post-BMT patients. Supra-therapeutic levels of cyclosporine and previous exposure to immunosuppression did not increase the risk of recurrence.
Background Posterior reversible encephalopathy syndrome (PRES) is a clinical radiologic disease described initially over two decades ago. This usually reversible entity is becoming more recognized and reported due to the increased index of suspicion and subsequent early brain imaging. It is described in pediatric oncology and post bone marrow transplant (BMT) patients mainly as case reports and case series. The aim of this single institution retrospective study is to describe a cohort of pediatric patients with oncologic diseases and post BMT and incorporate them in a systematic review of the literature to evaluate for differences in risk factors for developing PRES in patients post BMT for oncologic diseases compared to those transplanted for a benign disorder. Methods We retrospectively analyzed 11 patients admitted to a single center in Saudi Arabia and conducted a systematic review of previously published case reports and case series from January 1996 to December 2016. Results A total of 61 case reports and series were evaluated, 42 papers met the inclusion criteria in addition to our 11 patients for a total of 124 patients of which 27 were post BMT. The post BMT patients were divided by the indication of BMT into malignant and benign groups (14 (53.8%) and 12 (46.2%), respectively). One patient had missing data on the indication of BMT and was excluded. PRES was more common in males 69 / 120 (57.5%) in general, however, more common in females 17 / 27 post BMT (63%, p 0.015). The median age of presentation was 9.5 years (range 1.4 to 16 years) and PRES occurred on a median day +42 post BMT (range +2 to +144 days), and seemed to occur earlier in patients with benign diseases compared to malignant (median day +24 and day +45 respectively, p 0.104). We studied immunosuppression, hypertension history, and acute elevation of blood pressure (BP) as risk factors for developing PRES. There were 25 patients on immunosuppression; 20 (80%) were on cyclosporine (CsA) and 5 (20%) on tacrolimus. There were only 10 patients post BMT with reported presence or absence of toxicity of immunosuppression, 8 in the benign group, of which 3 (37.5%) patients had toxic levels of CsA, and 2 in the malignant group both with reported elevated CsA levels while other reviews showed PRES occurred independent of CsA level. Four patients were resumed on the same immunosuppression after the resolution of PRES, 2 developed recurrences and both were from the malignant group. The presence of history of hypertension as a risk factor was more common in the post BMT group compared to the non BMT group (9 / 13 (69.2%), 14 of 62 (22.6%) respectively, p 0.001), particularly in patients of the malignant group compared to the benign, but not statistically significant (5 of 6 (83.3%), 4 of 7 (57.1%) respectively, p 0.308). Acute hypertension was noted in all the patients with malignant disease who reported the BP, however, was only in 9 / 12 (75%) patients with benign disease. We were not able to evaluate hypomagnesemia as a risk factor due to the deficiency in reporting electrolytes in the case series, possibly due to the diverse specialties describing the disease. MRI was the diagnostic modality of choice. In the post BMT group, 18 / 26 patients (69.2%) had involvement of areas other than the parietal and occipital lobe on imaging, most commonly the temporal lobe. All the patients resolved from the acute episode of PRES. MRI was repeated in 10 patients at a median of 4 weeks (range 0.4 to 44 weeks), 5 patients had complete resolution of the MRI findings and 5 showed improvement in findings, with no differences in the two groups. Recurrence of PRES occurred in 4 / 26 patients (15.4%). There were no differences in the recurrence in relation to the underlying cause of BMT, clinical presentation, or imaging. There were 9 deaths (34.6%), none were due to PRES nor related to recurrence. Conclusion Our review showed the risk of PRES post BMT increased in females, the presence of history of hypertension, and immunosuppressive therapy, particularly CsA, which is similar to the literature. The time of presentation of PRES and the weight of each risk factor appears to be different in relation to the cause of BMT, however, the study is limited by the small number and reporting bias. The risk factor differences may be better elicited in a large cohort study. Disclosures No relevant conflicts of interest to declare.
SummaryWhen human leucocyte antigen‐matched related donors are available, haematopoietic stem cell transplantation (HSCT) in children with severe aplastic anaemia (SAA) represents the standard of care. Cyclophosphamide (Cy) 200 mg/kg and anti‐thymocyte globulin (ATG) are frequently administered, but to‐date, no standard conditioning regimen exists. In this study, we investigated the efficacy of a unified HSCT conditioning protocol consisting of low‐dose Cy 80 mg/kg, fludarabine and ATG. Data were reviewed from children aged ≤14 years with either acquired SAA or non‐Fanconi anaemia inherited bone marrow failure syndrome (IBMFS) between 2011 and 2022 at various Saudi institutions. Graft‐versus‐host disease (GVHD) prophylaxis included mycophenolate mofetil and calcineurin inhibitors. HSCT was performed in 32 children (17 females and 15 males). Nine patients had deleterious mutations (two ERCC6L2, two ANKRD26, two TINF2, one LZTFL1, one RTEL1 and one DNAJC21). Four patients had short telomeres. All 32 patients engrafted successfully. At 3 years post‐transplant, the event‐free survival was 93% and overall survival was 95%. Two patients experienced secondary graft failure or myelodysplastic syndrome. A low probability of GVHD was observed (one acute GVHD II and one mild chronic GVHD). These data highlight how HSCT using low‐dose Cy as part of a fludarabine‐based regimen is safe and effective in SAA/non‐Fanconi anaemia IBMFS.
This paper presents a family case of two brothers and two sisters with congenital lower limb lymphoedema, nail dystrophy, and with esotropia in two of them. They are offspring of healthy parents who are first cousins. This combination of congenital lymphoedema, nail dystrophy and esotropia in this sibship differs from other reported cases of congenital lymphoedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.