Acute necrotizing encephalopathy associated with RANBP2 mutation: Value of MRI findings for diagnosis and intervention

Introduction: Acute necrotizing encephalopathy (ANEC) is a rare entity characterized by encephalopathy following a febrile illness. Most patients are sporadic; however, recurrent and familial cases have been associated with RAN-binding protein 2 (RANBP2) mutation. Well-defined MRI findings can even be life-saving with early diagnosis and treatment. Methods: In this article, nine pediatric cases diagnosed with ANEC1 both clinically and radiologically, and with least one variation in the RANBP2 gene, are presented. Results: All patients were previously healthy and presented with encephalopathy after an acute febrile infection. The patients of 44% had a similar attack history in their family. Influenza A/B was detected in 7 patients (78%). One patient was admitted at age 32 years old. The first clinical findings of patients were encephalopathy (100%), seizure (44%), vision problems (33%), ataxia (11%), and monoplegia (11%). Recurrent attacks were seen in two (22%) patients. Brain MRI findings including bilateral thalamus, external capsules, and brainstem involvements were highly suggestive for RANBP2 mutation. Based on MRI findings, genetic analyses were quickly performed and confirmed. All of the patients were treated with empirical encephalitis treatment, oseltamivir, intravenous immunoglobulin (IVIG), high-dose steroid and, if necessary, plasmapheresis, but three (33%) patients died despite treatment. Conclusion: ANEC associated with RANBP2 mutation may occur early or late-onset and can be recurrent and fatal. Therefore, early diagnosis and treatment have the potential to modify the severity of this encephalopathy. Well-defined MRI findings are highly instructive for early diagnosis

Nötrofil-Lenfosit Oranlarının, Platelet Belirteçlerinin ve Sodyum Düzeyinin Febril Nöbetler ile İlişkisi

Amaç: Çocuk acil servise febril nöbet ile başvuran hastaların laboratuvar parametrelerini belirlemek ve bunların basit ve komplike nöbet ayrımındaki önemini göstermektir. Gereç ve Yöntem: Aralık 2019-Mart 2020 tarihleri arasında Adana Şehir Hastanesi Çocuk Acil Bölümü’ne febril nöbet ile başvuran hastaların başvurudan sonraki ilk bir saat içindeki nötrofil-lenfosit oranları, platelet değerleri ve sodyum düzeyleri incelendi. Bulgular: 138 basit ve komplike febril nöbet hastası çalışmaya alındı. 111’i (% 80,4) basit febril nöbet 27’si (% 19,5) komplike febril nöbetti. Nötrofil/lenfosit oranları ile Mean Platelet volüm/platelet oranları arasında basit ve komplike nöbet ayrım bakımından anlamlı bir farklılık saptanmadı (p> 0,05). Ancak febril nöbet ile başvuran hastaların % 65,2’de hiponatremi olup basit ve komplike nöbetler bakımından anlamlı farklılık mevcuttu (p:0,006). Tekrarlayan nöbet riski yönünden farklılık saptanmadı (p> 0,05). Sonuç: Hiponatreminin febril nöbete yatkınlık sağlayan bir neden olabileceği düşünüldü

Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes.

Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Turkiye. Clinical and paraclinical features were compared between patients with dis-ease onset before 12 years (earlier onset) and >= 12 years (later onset) as well as between our current (2015-2021) and previous (< 2015) cohorts. Results: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset < 12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. Conclusion: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought