A CASE OF HEMORRHAGIC SHOCK AND ENCEPHALOPATHY SYNDROME WITHOUT NEUROLOGIC SEQUEL

Hemorajik şok ensefalopati sendromu süt çocukluğu döneminde ani olarak başlayan şok, ensefalopati, dissemine intravasküler koagülasyon, metabolik asidoz ve çoklu organ yetmezliği ile giden, nadir görülen bir tablodur. Nedeni bilinmeyen bu sendromun mortalite ve nörolojik morbidite oranı oldukça yüksektir. Hemorajik şok ensefalopati sendromu tanısı konulduktan sonra nörolojik sekelsiz iyileşen 9 aylık bir olgu literatürler eşliğinde tartışıldı. Anahtar sözcükler: İshal, ateş, çoklu organ yetmezliği, hemorajik şok ensefalopati sendromu SUMMARY Hemorrhagic shock and encephalopathy syndrome is a severe disease that affect infants of less than 1 year of age and characterized by sudden onset of shock, encephalopathy, disseminated intravascular coagulation, metabolic acidosis and multiple organ dysfunction. The etiology of this syndrome is unknown and is associated with significant mortality and neurologic morbidity. We discussed a case of hemorrhagic shock and encephalopathy syndrome aged 9 months who recovered without neurologic morbidity and also the literature related with this syndrome was reviewed

Wpływ dystrybucji tkanki tłuszczowej oraz wybranych adipokin na insulinooporność w stanie przedcukrzycowym

  Introduction: The risk of developing insulin resistance and metabolic syndrome is particularly high in central obesity. In this study we evaluated the effects of fat distribution and some adipokines on insulin resistance in prediabetic patients. Material and methods: Eighty-seven age- and sex-matched patients were divided into three groups according to their 75-gram oral glucose tolerance test results as follows: impaired fasting glucose group, impaired glucose tolerance group, and normal glucose tolerance group. Fasting insulin levels were measured. Homeostatic model assessment of insulin resistance was calculated. Body fat mass measurements were assessed by bioelectric impedance analyser and abdominal fat thicknesses (subcutaneous, visceral, and preperitoneal) by ultrasonography. The fasting serum levels of several adipokines [adiponectin, leptin, resistin, vaspin, visfatin, retinol-binding protein-4 (RBP-4), tumour necrosis factor-alpha (TNF-alpha)] were measured by ELISA method. Results: The mean body mass index, fat mass measurements, and abdominal fat thicknesses of the groups were similar. There were no differences between groups in terms of the mean fasting insulin, vaspin, RBP-4, leptin, resistin, and TNF-alpha. In comparison of the prediabetic and normal groups, the levels of adiponectin (p < 0.001) and visfatin (p < 0.001) were lower in the prediabetic group. Furthermore, we found that high body mass index (p < 0.01) and fat mass (p < 0.01) and low adiponectin (p < 0.05) levels have roles in the development of insulin resistance in the prediabetic group. Conclusions: We suggested that in the prediabetic period not only obesity but also decreased adiponectin levels play some role in the pathogenesis of insulin resistance. (Endokrynol Pol 2016; 67 (3): 277–282)    Wstęp: Ryzyko rozwoju insulinooporności i zespołu metabolicznego zwiększa się zwłaszcza u osób z otyłością centralną. W niniejszym badaniu oceniono wpływ dystrybucji tkanki tłuszczowej i wybranych adipokin na insulinooporność u osób ze stanem przedcukrzycowym. Materiał i metody: Osiemdziesięciu siedmiu chorych dobranych pod względem wieku I płci podzielono na 3 grupy w zależności od wyniku testu doustnego obciążenia 75 g glukozy: osoby z nieprawidłową glikemią na czczo, osoby z nieprawidłową tolerancją glukozy i osoby z prawidłową tolerancją glukozy. Zmierzono stężenie insulin na czczo. Do oszacowania insulinooporności zastosowano model homeostazy. Masę tkanki tłuszczowej oceniono za pomocą analizatora bioimpedancji elektrycznej, a grubość brzusznej tkanki tłuszczowej (podskórnej, trzewnej i przedotrzewnowej) zmierzono metodą ultrasonograficzną. Stężenie na czczo w surowicy kilku adipokin (adiponektyna, leptyna, rezystyna, waspina, wisfatyna, białko wiążące retinol-4 [RBP-4], czynnik martwicy nowotworów alfa [TNF-alfa]) zmierzono, stosując metodę ELISA. Wyniki: Średni wskaźnik masy ciała, masa tkanki tłuszczowej I grubość brzusznej tkanki tłuszczowej były podobne we wszystkich grupach. Nie stwierdzono różnic między grupami pod względem średniego stężenia insuliny na czczo ani stężeń waspiny, RBP-4, leptyny, rezystyny i TNF-alfa. W porównaniu grup ze stanem cukrzycowym i grupy z prawidłową tolerancją glukozy wykazano, że stężenia adiponektyny (p < 0,001) i wisfatyny (p < 0,001) były niższe u osób ze stanem przedcukrzycowym. Ponadto stwierdzono, że wysoki wskaźnik masy ciała (p < 0,01) i duża masa tkanki tłuszczowej (p < 0,01) oraz niskie stężenie adiponektyny (p < 0,05) przyczyniają się do rozwoju insulinooporności u osób ze stanem przedcukrzycowym. Wnioski: Autorzy sugerują, że nie tylko otyłość, ale również obniżenie stężenia adiponektyny odgrywają pewną rolę w patogenezie insulinooporności w okresie przedcukrzycowym. (Endokrynol Pol 2016; 67 (3): 277–282)

DYKE-DAVIDOFF-MASSON SYNDROME: MYOCLONIC SEIZURES AND HEMIHYPERTROPHY IN LATE CHILDHOOD: A CASE REPORT

Dyke-Davidoff-Masson Syndrome (DDMS) is a rare syndrome characterized with specific clinical and radiological findings due to involvement of the developing brain with cerebral hemiatrophy of one hemisphere. The syndrome was first described from Dyke, Davidoff and Masson in 1933 in a series of nine patients. Syndrome has two forms, congenital and acquired forms and etiological factors vary due to involvement of the brain. Most common clinical symptom are focal or secondary generalized seizures. Hemiparesis, facial asymmetry, intellectual disability, mental retardation, and hemihypertrophy also seen in clinical process. In magnetic resonance imaging (MRI) DDMS has unique radiological findings. Seizures are commonly refractory to treatment and aim of the treatment is to control seizures and improve mental and intellectual capabilities. Prognosis is good when clinical findings occur after two years old

THE FACTORS THAT AFFECT DEVELOPING ANAL FISSURE IN CHILDHOOD

Amaç: Anodermal yırtık ya da kesik olarak tanımlanan anal fissür oluşumunda konstipasyon başta olmak üzere birçok faktör etkilidir. Bu çalışmanın amacı anne sütüyle beslenmenin, defekasyonun, anal bölge temizliği ve bakımının anal fissür gelişimine etkisinin belirlenmesidir. Gereç ve yöntem: Bu çalışmaya İzmir Bornova Atatürk Sağlık Ocağı ve Celal Bayar Üniversitesi Tıp Fakültesi Pediatrik Gastroenteroloji Polikliniğine Ocak-Mart 2006 arasında başvuran yaşları 1-17 ay arası (ortalama  standart sapma 6,6  4,0 ay) 72 bebek (40 erkek 32 kız) alındı. Bunlar anal fissür saptanan ve saptanmayan bebekler olarak iki gruba ayrıldı. Bebeğin yaşı, beslenmesi, defekasyon ritmi, gaita kıvamı, doğumdan sonraki gaita çıkış zamanı, konstipasyon için tedavi görüp görmediği, önceki anal fissür öyküsü ve yıkanma sıklığı kaydedildi. Hazır bez kullanımı, anal bölge bakımı ve temizliğinde kullanılan ajanlar soruldu. Bebeklerin tümüne ayrıntılı anal bakı yapıldı. Bulgular: Anal fissürü olan grupta 29, olmayan grupta 43 bebek vardı. Anne sütü ile beslenme anal fissür gelişiminden koruyucu bulundu (eksponensiyel B = 0,11, %95 CI = 0,02 - 0,76). Defekasyon ritmi ve gaita kıvamı iki grup arasında anlamlı farklı olmasına karşın regresyon analizinde anlamlı farklı bulunmadı (sırası ile p=0,09 ve 0,29). Anal bölge temizliğinde ıslak mendil kullanımının anal fissür riskini anlamlı arttırdığı saptandı (eksponensiyel B= 11,0, %95 CI= 2,13 - 57,6). Önceki anal fissür öyküsü regresyon analizinde anlamlılığını yitirdi (eksponensiyel B= 4,34, %95 güven aralığı= 0,89 - 20,99). Regresyon analizi modeline alındığında yaştaki her 1 aylık artışın fissür riskini 1,4 kat arttırdığı bulundu. Doğumdan sonra ilk defekasyon zamanı, konstipasyon tedavisi, yıkanma sıklığı ve anal bölge bakımının her iki grup arasında anlamlı farklılık göstermedi. Sonuç: Anne sütü alımının anal fissür gelişimi riskini azalttığı, ıslak mendil kullanımının ise arttırdığı düşünülmüştür. Objective: Many factors especially constipation play a role in the development of anal fissure that is defined as anodermal tear or cut. The aim of this study was to evaluate the influence of breast feeding, defecation, anal hygiene and care on development of anal fissure. Material and method: The study included 72 children (40 males 32 females) aged 1-17 months (mean  standard deviation 6.6  4.0 months) who presented to Izmir Bornova Ataturk Health Center and Celal Bayar University Pediatric Gastroenterology Outpatient Department between January-March 2006. These were grouped into two as babies with and without an anal fissure. Age, nutrition, defecation rhythm, stool consistency, time of first defecation after birth, history of constipation treatment, history of previous anal fissure and bathing frequency were recorded. Use of diapers, agents used in anal care and hygiene were questioned. All the children had anal examination. Results: The anal fissure group included 29 babies whereas the one without anal fissure included 43 babies. Breast feeding was found to be protective against anal fissure development (eksponential B = 0.11, %95 confidence interval = 0.02-0.76). Defecation rhythm and stool consistency was not found to be significant in regression analysis although they were significantly different between the two groups (p=0.09 ve 0.29 respectively). Use of baby wipes for cleaning anal region was detected to increase risk of anal fissures significantly (eksponential B= 11.0, %95 CI= 2.13-57.6). Previous history of anal fissure lost its significance in regression analysis (eksponential B= 4.34, %95 confidence interval = 0.89-20.99). It was detected that increase of one month of age increased the risk of anal fissure development by 1.4 times. Time of defection after birth, bathing frequency and anal care was not significantly different between the groups. Conclusion: It was thought that the risk of anal fissure development decreased with breast feeding while it increased with the use of wet wipes

A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period. A case of a 4-month-old female patient presented to our hospital with status epilepticus. Her seizures started in the neonatal period and partial response to phenobarbital was seen. Her seizures could not be controlled with appropriate antiepileptic treatment. The seizure stopped with 100 mg of intravenous pyridoxine administration. The diagnosis of PDE was considered and ALDH7A1 gene mutation analysis revealed homozygous missense mutation. Pyridoxine should be administrated in case of intractable seizures and should be included in status epilepticus treatment protocol. Diagnosis of PDE should be considered especially in our country where consanguineous marriage is frequently seen

A Neuroblastoma Case Presenting with Seizures Resistant to Anti-Epileptic Treatments

Seizure is a rare symptom of paraneoplastic syndrome seen in neuroblastoma without a previous history. A 4-month-old male patient who was followed up with a preliminary diagnosis of an adrenal mass in pediatric oncology was admitted to hospital with a seizure. A diagnosis of undifferentiated neuroblastoma was made with a biopsy from an adrenal mass. Seizures were resistant to anti-epileptic therapy and they were completely under control with steroids on the 4th day of treatment. Electroencephalography (EEG) disturbances disappeared and no neurologic deficit was detected. This case, which presented with isolated seizure symptoms of neuroblastoma and was treated with steroids, was a very rare presentation in which symptoms and EEG disturbances disappeared. In neuroblastoma, autoimmunity may be involved in the pathogenesis of seizures, which is a rare finding of paraneoplastic syndrome and the option of immunotherapy should be considered

Vitamin A status of healthy children in Manisa, Turkey

<p>Abstract</p> <p>Background</p> <p>Vitamin A deficiency is a major public health nutrition problem in the developing world. Even subclinical Vitamin A deficiency is associated with increased childhood mortality. Severe maternal vitamin A deficiency may cause increased mortality in the first months of life. There have been a limited number of studies regarding vitamin A status in Turkey. The aim of this study was to assess vitamin A status of healthy children in Manisa, Turkey.</p> <p>Methods</p> <p>Vitamin A status of 100 healthy children aged 36-48 months is evaluated. The children were seen during routine examination. Serum retinol concentrations were measured by high-performance liquid chromatography. Duration of breast feeding, age solid foods introduced, use of supplementary vitamins, weight and height, and intake of specific groups of nutrients on a daily, weekly and monthly basis were collected from a questionnaire completed by the mothers. Height and weight z-scores were calculated according to national standards. Mothers of 20 of the 100 children were known to have normal serum and breast milk retinol concentrations. Children with normal serum retinol concentration were compared with the children with VAD. Student's t-test and Mann-Whitney test were used to compare independent variables. The Pearson correlation analysis test was used to test relation between numeric variables.</p> <p>Results</p> <p>Mean retinol concentration was 0.98 ± 0.32 μmol/L in the whole study group. Serum retinol concentrations were normal (>0.70 μmol/L) in 89% of the children. When children with normal serum retinol concentrations were compared with those with retinol concentrations lower than 0.70 μmol/L, there was no difference in terms of age, gender, weight and height at the time of study, z-scores, birth weight, birth length, duration of breast feeding, time to begin solid food, rate of supplementary vitamin use, and rate of infections (P > 0.05). There was not any relation between vitamin A concentrations and weight and height at the time of study, z-scores, birth weight, birth length, duration of breast feeding, time to begin solid food, vitamin use, and frequency of intake of specific groups of nutrients (P > 0.05).</p> <p>Conclusions</p> <p>This study showed that VAD is a moderate health problem in Manisa.</p

Cardiac rhabdomyoma and tuberous sclerosis: A case report

Tuberoz sklerozis, mental retardasyon, epilepsi ve adenoma sebaseum triadı ile karakterize otozomal dominant geçişli nörokutaneoz bir sendromdur. Deri, beyin, böbrek, kalp ve göz tutulumu tuberoz sklerozda sıktır. Çocukluk çağında kardiyak tümörler oldukça nadirdir. Çocukluk çağında en sık görülen primer kardiyak tümör kardiyak rabdomiyomadır ve genelde tuberoz skleroz ile ilişkilidir. Çocukluk çağında kardiyak rabdomyoma spontan regresyon özelliği ile genellikle benign olarak kabul edilir. Bu olgu sunumunda infantil spazm şeklinde nöbetleri olan ve yapılan ekokardiyografide sağ ventrikülde rabdomiyoma saptanan bir yaşındaki kız olgu sunulmuştur. Olgunun 6 ay sonraki ekokardiyografik incelemesinde belirgin regresyon vardı. Bu olgu sunumunda, tuberoz sklerozlu olguların yarısından fazlasında görülen ve genellikle asemptomatik olan kardiyak rabdomiyomaların spontan regresyon özelliği ve gerek tanıda gerekse izlemde ekokardiyogramın öneminin unutulmaması gerektiği vurgulanmak istenilmiştir.Tuberous sclerosis is an autosomal dominantly inherited neurocutaneous syndrome that is characterized by triad of mental retardation, seizures and adenoma sebaceum. The skin, brain, kidney, heart and eye are frequently involved in patients with Tuberous sclerosis. Cardiac tumors in childhood are extremely rare. Cardiac rhabdomyoma, the most common primary cardiac tumor of childhood, is frequently associated with tuberous sclerosis. Cardiac rhabdomyoma is generally a benign condition in which spontaneous regression is the rule in childhood. In this case report we presented a 1 year-old-girl with seizures as an infantil spasm and rigth ventricuie rhabdomyoma as found by ECHO. After 6 months there was a significant regression in the echocardiographic findings. In this case report we emphasized that cardiac rhabdomyoma in tuberous sclerosis is seen in more than half of the patients and it is usually asymptomatic anda spontaneous regression is characteristic and echocardiography is important for diagnosis and follow-up