Mushroom poisoning in childhood in Sivas, in the Middle Anatolia region, Turkey: common features in 79 patients

AMAÇ: Mantar zehirlenmesi çocukluk çağında önlenebilir ve yüksek mortaliteli bir zehirlenme nedenidir. Doğadan toplanan mantarlar yöresel alışkanlıklarla besin maddesi olarak bazen bilinçsizce tüketilmektedir. Görüntü, tat ve kokularıyla zehirli olan ve olmayan mantarların ayrımlarını sağlayacak tipik özellikler yoktur. GEREÇ ve YÖNTEMLER: Bu çalışmada Mayıs 2005 ile Haziran 2008 tarihleri arasında Cumhuriyet Üniversitesi Tıp Fakültesi Hastanesi çocuk acil servisine başvuran, mantar zehirlenmesi tanısı alan 79 çocuk hasta retrospektif olarak incelenmiştir. Mantar zehirlenme olguları cinsiyet, yaş, başvuru zamanı, latent fazın süresi, klinik ve laboratuar bulguları, hastanede kalış süreleri ve prognozları açısından değerlendirildi. BULGULAR: Olgularımızın %29,1'i yedi yaş ve altında, 33'ü kız (%41.7), 46'sı erkekti (%58.2) ve %59,4'ü yaz aylarında başvurmuştu. Basvuru anında gastrointestinal belirtiler %70,8'inde, nörolojik bulgular %17,7'sinde, dermatolojik bulgular %11,3'ünde ön plandaydı. Hastaların %86'sında zehirlenme belirtileri ilk bir saat içinde başlamış ancak hiçbirinde karaciğer yetmezliği bulguları görülmemiştir. Tedavide gastrointestinal lavaj, aktif kömür verilmesi, zorlu diürez gibi geleneksel eliminasyon yöntemleri ve IV penisilin G uygulanmıştır. Olguların hastanede kalış süreleri ortalama üç gündür. SONUÇ: Hastaların hiç birinde hemoperfuzyon veya plazmafereze gerek olmamıs ve hepsi sekelsiz taburcu edilmistir. Çocukluk çağında mantar zehirlenmeleri fatal seyirli olabileceği için bütün mantar zehirlenmesi olguları karacigğer böbrek yetmezliği ve koagulasyon bozuklukları açısından ciddi ele alınmalı ve bölgesel özellikler göz önünde bulundurulmalıdır.OBJECTIVE: Mushroom poisonings are the cause of intoxications with high mortality that can be prevented in childhood. Mushrooms picked as wild may be ignorance consumed sometimes as nourishment because of local habits in our region. There aren't any macroscopic, taste or smell characteristics to distinguish the safe mushrooms from the toxic ones. MATERIALand METHODS: In this study, we retrospectively analyzed 79 child patients who were diagnosed with mushroom poisoning at the pediatric emergency department of Cumhuriyet University Hospital from May 2005 to June 2008. The age, gender, application time, the duration of latent phase, clinical and laboratory findings, staying in hospital and prognosis of mushroom poisoning cases were investigated. RESULTS: 46 of the 79 patients (58.2%) were male and 33 patients (41.7%) were female. 23 patients (29.1%) were 7 years old and under, and 47 cases (59.4%) were hospitalized in summer. The first symptoms in admittance were gastrointestinal (70.8%), neurologic (17.7%) and dermatologic (11.3%), respectively. The duration of latent phase was under 1 hour in 68 patients (86%) and there weren't hepatic failure in any patient. Therapeutic strategy comprised conventional elimination methods such as gastrointestinal lavage, charcoal administration, forced diuresis and IV penicillinGadministration. The hospitalization of patients were mean 3 days. CONCLUSION: Hemoperfusion and plasmapheresis weren't necessary in any patient and they were discharged without any squeal. Since mushroom poisoning may have fatal prognosis in childhood, the patients with mushroom poisoning should be considered seriously for hepatic, renal failure and coagulation disorders and for regional characteristics

Resistant Chorea Successfully Treated With Intravenous Immunoglobulin: A Case Report*

Sydenham’s chorea (SC) is common cause of acquired chorea in childhood. SC occurs mainly in children with untreated streptococcal infections. An effective list of therapeutic options has been used to treat this disorder: antiepileptic drugs (valproic acid, carbamazepine etc.), haloperidol, chlorpromazine, amphetamines, steroids, plasma exchange and intravenous immunoglobulins (IVIG). We report a 12-year-old girl with carditis and severely generalized chorea and successfully treated with IVIG. This case report shows that IVIG is an effective treatment for the chorea cases resistant to anticonvulsants, dopamine antagonists and steroids, although larger studies are needed to confirm this conclusion

Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation

Berber, Ergül (Arel Author)

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Background: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures. Case Report: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy. Conclusion: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic

Crimean-Congo hemorrhagic fever disease due to tick bite with very long incubation periods

SummaryBackgroundCrimean-Congo hemorrhagic fever (CCHF) is a zoonotic viral disease with a high mortality rate, and is one of the viral hemorrhagic fever syndromes. The average mortality rate of CCHF is 3–30%. Research indicates that the longest incubation period after a tick bite is 12 days in CCHF disease. However, in clinical practice, we encounter patients with CCHF as a result of tick bites with much longer incubation periods (max. 53 days) than those reported in the literature. We present herein CCHF cases presumably infected through tick bites and having incubation periods longer than the upper limit reported in the literature.MethodsWe analyzed the cases of the 825 CCHF patients admitted to our hospital from 2007 to 2010 and found that 312 of them had undoubtedly been bitten by a tick. We searched the patient records for information on the incubation period and found that 12 patients had experienced an incubation period of over 12 days, which is the longest incubation period stated in the literature for patients definitely bitten by a tick.ResultsA total of 12 patients (eight males and four females, with a mean age of 45 years) were recruited into this study. Five (41.7%) of the 12 patients had positive CCHF virus-specific IgM antibodies, three (25%) had a positive reverse transcription polymerase chain reaction test for CCHF virus, and four (33.3%) had positive results in both tests during the acute and/or convalescent phase of the disease. In these cases, the interval between tick bite and the onset of symptoms was a mean of 23.6 days (range 13–53 days).ConclusionPhysicians serving in endemic regions should be aware of these longer incubation periods after a tick bite. It is suggested that they perform more follow-ups on clinically and serologically highly suspected patients than they currently do

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children

Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Turkiye were retrospectively investigated. Results: Fifty-four patients (mean age:15.2 years (+/- 5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (+/- 4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. Conclusions: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature

Evaluation of serum selenium levels in children with recurrent febril convulsions

Giriş: Febril konvülziyon (FK), altı ay beş yaş arası çocuklarda merkezi sinir sistemi (MSS) enfeksiyonu, elektrolit dengesizliği, MSS’ni doğrudan etkileyen hastalıklar ve afebril konvülziyon öyküsü olmaksızın nörolojik olarak sağlıklı çocuklarda görülen ateşle birlikte ortaya çıkan konvülziyonlar olarak tanımlanmıştır. Çalışmamızda tekrarlayan FK geçiren hastalardaki serum selenyum düzeylerini belirleyerek, tekrarlayan FK ile ilişkisini tespit etmeyi amaçladık. Gereç ve Yöntem: Tekrarlayan febril konvülziyon tanısı konan 61 çocuk olgu çalışmaya alındı. Aynı tarihler arasında pediatri polikliniğine rutin takip için başvuran ateş ve konvülziyon öyküsü olmayan 54 sağlıklı çocuk kontrol gurubu olarak seçildi. Çalışma ve kontrol grubundaki hastaların serumlarında atomik absorbsiyon spektrometri cihazında hidrür oluşturma yöntemi ile serum selenyum düzeyleri ölçüldü. Bulgular: Tekrarlayan FK olgularında ortalama serum selenyum düzeyi 67,10±8,87 μg/L, kontrol grubunda 81,99±13,13 μg/L olarak saptandı. Serum selenyum düzeyinin tekrarlayan FK olgularında kontrol olgularına göre daha düşük olması istatistiksel olarak anlamlı bulundu (p<0,05). Sonuç: Tekrarlayan FK’lu olgularda serum selenyum düzeylerinin düşük bulunması, bu eksikliğin nöbetleri başlatabileceğini veya nöbetlerin tekrarlamasına neden olabileceğini düşündürmektedir. Ancak daha ileri araştırmalara ihtiyaç vardır.Introduction: The febrile convulsion (FC) occurs in neurologically normal children aged between six months and five years and it is defined as convulsions occurred during fever and in the absence of central nervous system (CNS) infection, electrolyte imbalance, diseases affecting directly CNS, and history of afebrile convulsion. The aims of this study were to determine the serum levels of selenium in patients with recurrent FC and to compare them with those of healthy children. Materials and Methods: The study included 61 pediatric patients diagnosed with recurrent FC. At the same session, 54 healthy children who admitted to our pediatric clinic for routine controls without history of fever and convulsion, are assigned as control group. The serum level of selenium was measured by atomic absorption spectrometric method (hydride technique). Results: Mean level of selenium was determined as 67.10±8.87 μg/L in patients and 81.99±13.13 μg/L in control group; the difference was statistically significant (p<0.05). Discussion: The lower serum levels of selenium in patients with recurrent FC may be the cause of triggering of convulsion or may contribute to its recurrence. Further studies are necessary to clarify this relationship

First case of MELAS syndrome presenting with local brain edema requiring decompressive craniectomy

Mitochondrial encephalomyopathy, lactic acidosis, and recurrent stroke-like episodes (MELAS) syndrome is a rare but one of the most common maternally inherited multisystem disorder. Although patients with MELAS present a variable clinical profile, stroke like lesions have been detected in 90% of cases, with stroke being the first presenting symptom in 25% of cases. However, cases of local brain edema requiring decompressive craniectomy has not been reported. A 12-year-old male patient was admitted to our pediatric intensive care unit with altered mental status, seizures, and vision loss. The patient was stuporous and presented neck stiffness. Complete blood count, serum electrolytes, biochemistry (including lactate level), acute phase reactants, and repeated blood gas analysis were unremarkable. Brain magnetic resonance imaging (MRI) revealed an edematous stroke-like lesion in the right occipital lobe accompanied by brain swelling. Intravenous ceftriaxone, acyclovir, intravenous immunoglobulin (IVIG), and pulse steroid therapy were started for possible diagnosis of viral/bacterial/autoimmune encephalitis; levetiracetam, phenytoin, and an infusion of sodium thiopental were started for refractory status epilepticus; and a 3% NaCl infusion was started for local brain edema. The results of serum autoimmune encephalitis panel were negative. Further investigations for rheumatic, vascular, and metabolic disorders were unremarkable. Despite these supportive treatments, the patient was clinically decompensated due to brain swelling that progressed to the left midline shift, and he underwent decompressive craniectomy. Histologic examination of brain biopsy specimen revealed non-specific encephalitis findings. A pathogenic variant of the MT-TL1 gene (m.3243A>T), responsible for MELAS, was detected. The patient's condition dramatically improved after specific treatment for MELAS. If the diagnosis and treatment are delayed, MELAS syndrome can cause serious brain edema, which may ultimately require decompressive craniectomy

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. Methods: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. Results: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. Conclusion: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients