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

Alleviation of Aluminum-Induced Oxidative Stress, Trace Element, and Mineral Levels in Rat Tissues Protective Role of Pomegranate Juice (Punica Granatum L.)

The present investigation examined the impact of pomegranate (Punica granatum L.) juice on trace elements, minerals, and oxidative stress in relation to the potential harm inflicted by aluminum chloride (AlCl3) in rats. Rats were split into four groups at random for this purpose: control (C), pomegranate juice (PJ), aluminum chloride (A), and PJ + A. For 30 days, PJ was orally administered by gavage at a rate of 4 mL/kg every other day, whereas AlCl3 was administered intraperitoneally at 8.3 mg/kg. Spectrophotometric analysis was used to measure the levels of malondialdehyde (MDA), glutathione (GSH), superoxide dismutase (SOD), and catalase (CAT) enzyme activity in various tissues. In addition, high-resolution continuum source flame atomic absorption spectrometry (HR-CS FAAS) was used to determine the amounts of the elements Al, Cu, Fe, Mn, Zn, Ca, and Mg in the tissues. It was discovered that when PJ therapy was applied to all tissues, the antioxidant enzymes SOD and CAT activity increased, the GSH level rose, and the MDA level, a sign of lipid peroxidation, decreased. Al and Ca levels increased in the A group relative to the C group in all tissues, whereas they decreased in the A + PJ group relative to the A group. Group A exhibited a proportionate increase in Fe levels in the liver and renal tissues compared with group C. Furthermore, the A group’s brain tissue had a higher Fe level than the C group’s. The A + PJ group’s brain tissue had a lower Fe level than the A group’s. Our findings demonstrate that PJ therapy greatly decreased Al buildup and oxidative stress in tissues while controlling variations in trace element levels. In addition, it is concluded that PJ might have value as a strong chelating agent to prevent Al poisoning. © 2023, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature

Clinical and radiological evaluation with Neurofibromatosis Type 1 and investigation of patients with growth retardation.

TEZ10128Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 2013.Kaynakça (s. 79-83) var.xi, 87 s. : res. (bzs. rnk.), tablo ; 29 cm.Amaç : Bu çalışmada, NF-1 tanısıyla takip edilen çocukların klinik ve radyolojik bulgu ve komplikasyonlarının değerlendirilmesi ve boy kısalığı olan ve olmayanların endokrinolojik olarak, hormonal dağılımları arasındaki ilişkinin araştırılması amaçlandı. Gereç ve Yöntem : Bu çalışmaya 2012 Ocak ve 2013 Ocak tarihleri arasında Çukurova Üniversitesi Çocuk Nöroloji Polikliniğine düzenli takibe gelen NIH 1988 kriterlerine göre NF-1 tanısı alan 48 hasta alındı. Tüm hastalarda büyüme izlemi (vücut ağırlığı, boy, baş çevresi), arteryel kan basıncı ölçümleri, fizik muayeneleri aynı hekim tarafından standartlara uygun biçimde yapıldı. Olgular muayenede NF-1’e ait mevcut olabilecek bulgular yönünden çocuk nöroloji uzmanı ile birlikte ve bulgu ve komlikasyonlara yönelik göz, ç. kardiyoloji, ç.endokrin uzmanı ve psikolog tarafından standartlara uygun biçimde değerlendirildi. Hastalardan alınan 5cc lik serum örneklerinde FSH, LH, testosteron, estrojen, TSH, FT4, FT3, GH, serum IGF-1 ve IGFBP-3 düzeyleri ölçüldü. Bulgular : Olguların yaş ortalaması 9.57 yaş olup; 18’i kız (% 37.5), 30’u erkek (% 62.5). Hastaların 32’si (% 66.7) herediter, 16’sı (% 33.3) ise sporadik geçişliyken, herediter olanların 8’i (% 26) anneden, 23’ü (% 74) babadan geçişli idi. Hastalar klinik ve radyolojik olarak değerlendirildiğinde; heredite ve yaş ile arasında anlamlı bir ilişki saptanmadı (p>0.05). MRG’deki hiperintensite ile inguinal çillenme, makrosefali ve boy kısalığı, epilepsi ve mental retardasyon, puberte ile kemik displazisi, kemik displazisi ve pleksiform nörofibrom arasında anlamlı bir ilişki saptandı (p0.05). Prepubertal dönemde boy kısalığı ile FT4 düzeyleri, boy kısalığı ile TSH düzeyleri arasında anlamlı bir ilişki saptandı (p0.05). there were signifant relevance between hyperintensity at MRI images and inguinal freckles, macrocephaly and short stature,epilepsy and mental retardation, puberty and bone dysplasia,bone dysplasia and plexiform neurofibroma (p0.05).there were significant relevance between short stature at prepubertal ages and ft4 levels, short stature at prepubertal ages and TSH levels (p<0.05). Conclusion : Even if there were relevance between some clinical and radiological findings, we don’t know the pathophysiology and mechanisms. Furthermore, there were some relevances between some signs like short stature and macrocephaly that are not included at diagnostic criterias of NF-1. Short stature at pubertal ages and IGF-1 levels showed significant diffference. Since this difference is not associated with malnutrition, hormonal factors may play a role at the etiology of short stature at NF-1 patients. We need more researchs to understand the mystery of NF-1 which has a great number of gene family.Bu çalışma Ç.Ü. Bilimsel Araştırma Projeleri Birimi tarafından desteklenmiştir. Proje No: TF2012LTP4

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

Reply to "Impact of drug-resistant epilepsy on sleep in children: How they behave?"

..

How do children with drug-resistant epilepsy sleep? A clinical and video-PSG study

Aim: The aim of this study was to assess sleep architecture and sleep problems among three homogenous groups of children including children with drug-resistant focal epilepsy, children with newly diagnosed, drug-naive focal epilepsy, and healthy children using overnight video-polysomnography (V-PSG) and a sleep questionnaire.Methods: We compared sleep architecture among 44 children with drug-resistant focal epilepsy, 41 children with newly diagnosed, drug naive focal epilepsy, and 36 healthy children. All children underwent an overnight V-PSG recording, and their parents completed the Children's Sleep Habits Questionnaire (CSHQ). Sleep recordings were scored according to the American Academy of Sleep Medicine criteria.Results: Compared with children with newly diagnosed epilepsy and healthy controls, children with drug-resistant epilepsy receiving antiepileptic treatment showed disturbed sleep architecture, a significant reduction in time in bed, total sleep time, sleep efficiency, NREM3%, REM%, and a significant increase in awakenings, wake after sleep onset, and periodic leg movement. Children with drug-naive, newly diagnosed focal epilepsy showed a statistically significant increase in sleep onset latency, rapid eye movement (REM) latency, N1%, awakenings, and a significant decrease in time in bed when compared with the controls. Children with drug-resistant epilepsy had the highest CSHQ total scores, while children with drug-naive, newly diagnosed focal epilepsy had higher scores than healthy children.Conclusion: This is one of the few polysomnographic studies adding to the limited research on the sleep macrostructure of children with drug-resistant epilepsy compared with children with drug-naive, newly diagnosed focal epilepsy and healthy children by obtaining objective measurements of sleep concurrently with a validated questionnaire. Children with drug-resistant epilepsy had a greater incidence of sleep disturbance on the basis of qualitative aspects and architecture of sleep than children with newly diagnosed epilepsy, suggesting the need for referral of children with drug-resistant epilepsy for overnight sleep evaluation in order to improve the clinical management and optimize therapeutic strategies

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. Case Report: Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis. Conclusion: We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I.Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. Case Report: Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis. Conclusion: We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I