Miller-fisher syndrome: a case report

Miller-Fisher syndrome is characterized by gait ataxia, external ophtalmoplegia and areflexia and thought as an uncommon variant of Guillain Barre syndrome. Miller-Fisher syndrome is observed in about 5-8% of all Guillain Barre syndrome cases. Acute onset of external ophthalmoplegia is a cardinal feature of Miller-Fisher syndrome. Miller-Fisher syndrome can be distinguished from Guillain Barre syndrome by a few clinical features. Because of the laboratory findings are not spesific for Miller-Fisher syndrome, the diagnosis is made only with suspicion of the disease. Miller-Fisher syndrome was diagnosed at a five years old girl with gait ataxia, ophthalmoplegia, hyporeflexia, cerebrospinal fluid and electromyographic findings. Intravenous immunoglobulin 1g/kg/dose was used for two days. The aim of the case is presented here to remind this very uncommon antity

Crouzon syndrome: neonatal case report

Altı günlük kız bebek sarılık, baş, yüz ve gözlerdeki şekil bozukluığu nedeniyle getirildiği hastanemize tetkik ve tedavi amacıyla yatırıldı. Yapılan fizik muayenesinde brakisefali, ekzoftalmus, gaga şeklinde burun, yüksek damak anomalisi ve kranial sütürlerde sinostoz saptandı. Fizik muayene bulguları ve görüntüleme yöntemleri ile Crouzon sendromu tanısı kondu. Olgu nadir görülmesi ve fenotipik özellikleriyle tanı konulabilmesi nedeniyle sunuldu.Six day old girl was admitted to hospital for jaundice and abnormalities of the head, face and eyes. Her physical examination showed synostosis of cranial sutures, brachycephaly, beak-like nose, exophthalmos and high arched palate. Crouzon syndrome was diagnosed by physical examination and imaging tecniques. This case was presented due to it's importance as a rarely seen syndrome and for being diagnosed due to phenotypic characteristics features

Congenital rubella syndrome: report of aneonate

Mekonyum aspirasyon sendromu, sarılık, konjenital kalp hastalığı tanıları ile hastanemize sevk edilen kırk saatlik olguda mikrosefali, mikroftalmi, hepatosplenomegali, katarakt, ventriküler septal defekt, pulmoner stenoz, trombositopeni, peteşi ve direkt hiperbilirubinemi saptandı. Serumda antirubella IgM pozitifliğinin gösterilmesi üzerine konjenital rubella sendromu tanısı kondu. Olgu kız çocuklarında rubella immunizasyonunun doğurganlık çağından önce sağlanmasının önemini vurgulamak amacıyla sunulduA fourty hour-old neonate was referred to our hospital with the diagnosis of meconium aspiration syndrome, jaundice and congenital heart disease. Microcephaly, microphtalmia, petechiae, hepatosplenomegaly, cataract, ventricular septal defect, pulmonary stenosis, thrombocytopenia and direct hyperbilirubinemia were found.With these findings and a positive serum antirubella IgM serology, congenital rubella syndrome was diagnosed. This case is reported to emphasize the importance of rubella immunization for girls before they reach childbearing age

Neonatal transport

Bu çalışmada hastanemiz yenidoğan servisine sevk edilen yenidoğan bebeklerin gönderilme nedenleri ve nakil koşulları incelendi. Bebeklerin %59.9'u term, %40.1'i preterm idi. Nakil aracı olarak term bebeklerin %47.1'inde, pretermlerin %70.3'ünde ambulans, term bebeklerin %52.9'unda, preterm bebeklerin %29.7'sinde otomobil kullanılmıştı. Term (%29.2) ve preterm (%48.0) bebeklerde en sık sevk nedeni solunum sorunları idi. Ambulans ile nakledilen olguların %45.7'sine doktor, %54.3'üne hemşire veya diğer sağlık personeli eşlik etmekteydi. Nakil öncesi olguların %55.3'ü için hastanemize haber verilmemiş, %39'una epikriz yazılmamıştı. Olguların %77.2'si parenteral sıvı desteği sağlanmadan sevk edilmiş, transport sırasında ise olguların %48.2'sine oksijen verilememişti. Preterm bebeklerin %36.2'si küvöz içinde gönderilmişti. Olguların %25.4'ünde hipotermi, %31.2'sinde hipoglisemi ve %33.8'inde hipoksi saptandı. Term bebeklerin %3.8'i, preterm bebeklerin %9.2'si hastanemize geldikten sonraki ilk 24 saat içinde kaybedi i. Bu sonuçlar yenidoğanların nakil öncesi ve nakil sürecinde stabilizasyonunun, nakil öncesi perifer sağlık merkezleri ile yenidoğan merkezimiz arasındaki haberleşmenin, personel eğitiminin, nakil araçlarındaki donanımın yeterli düzeyde olmadığını göstermektedir.In this study the referral reasons and transport conditions of newborns referred to our neonatology unit were investigated. 59.9% of babies were term and 40.1% of babies were preterm. While 47.1% of term and 70.3% of preterm babies were transported by ambulances; 52.9% of term and 29.7% preterm babies were transported by cars. The respiratory distress syndrome was determined as the most common referral diagnosis in term (29.2%) and preterm (48%) babies. In 45.7% of the cases a doctor and in 54.3% of the cases a nurse or other medical personnel escorted the baby during transport by ambulance. Prior to transport no information had been given to our hospital for 55.3% of the cases and 39.0% of the cases had no referral letter. 77.2% of the cases was referred without parenteral fluid support and oxygen was not administred to 48.2% of the cases during transport. Only 36.2% of preterm babies was transported in an incubator. Hypothermia was found in 25.4%, hypoglycemia in 31.2% and hypoxia in 33.8% of the cases. 3.8% of term and 9.2% of preterm babies died within 24 hours after theiradmission to our hospital These results show that stabilization of the newborn before and during transport, communication between community hospital and our neonatology unit prior to transport, personnel training and equipment of the transport vehicle were not adequate

Hinman syndrome: case report

Hinman sendromu yapısal ve nörolojik bir neden olmaksızın eksternal sfinkterin iseme sırasında gevseyememesi ile karakterize bir hastalıktır. Dört yasındaki kız olgu kesik kesik idrar yapma, gece, gündüz ıslak kalma ve tekrarlayan idrar yolu enfeksiyonu yakınmaları ile yatırıldı. Bu yakınmalarının 7 ay önce basladıgı ögrenildi. Fizik muayenesinde glob vezikal saptanan hastanın yapılan batın ultrasonografisinde her iki böbrek pelvisinde dilatasyon, voiding sistoüretrografide mesane kapasitesinde azalma, kontur düzensizligi saptandı, vezikoüreteral reflü gösterilemedi. Ürodinamik çalısmaile detrusor sfinkter dissinerjisi saptandı ve Hinman sendromu tanısı kondu. Olgu ilgi çekici olması nedeniyle literatür esliginde sunuldu.Hinman syndrome, also called detrusor-sphincter dyssynergia is characterized by failure of the external sphinchter to relax during voiding in the absence of a definable structural and neurological cause. A four year-old girl was admitted hospital with the complaints of intermittant stream, daytime wetting and recurrent urinary tract infections. It was learned that these complaints had begun seven months ago. Globe vesicale was found in the physical examination; and abdominal ultrasonography revealed bilateral renal pelvic dilatation and decreased capasity; and irregular contour of bladder were detected in the voiding cystourethrogram but vesicoureteral reflux was not found. Detrussor sphyncter dyssynergia was determined according to the results of urodynamic studies and she was diagnosed as Hinman syndrome. This case was presented with a reviev of the literature since it was interesting

İntravenous immunglobulin therapy in a casewith chronic bullous disease of childhood

Çocukluk çağının kronik büllöz hastalığı nadir görülen, etiyolojisi tam olarak bilinmeyen subepidermal büllü hastalıklardandır. Bu hastalıkta direkt immunofloresan yöntemi ile epidermal bazal membranda IgA'nın lineer depolanması patognomoniktir. Tedavide sıkılıkla dapson kullanılır. Intravenöz immunglobulin tedavide yeni bir yaklaşımdır. Oniki aylık erkek hasta özellikle ağız çevresinde olmak üzere yüzünde, kalçasında, kol ve bacaklarında çok sayıda bül varlığı yakınması ile başvuru üzerine hastaneye yatırıldı. Cilt biyopsi örneğinin direkt immunofloresan yöntemiyle incelenmesinde dermoepidermal hat boyunca IgA depolandığı görüldü. Bu bulgularla olguya çocukluk çağı kronik büllöz hastalığı tanısı konuldu. Olguda tedavi amacıyla intravenöz immunglobulin kullanıldı ve üç gün içinde tüm lezyonların tamamen iyilestiği belirlendi. Hasta bir yıldır herhangi bir tekrarlama görülmeksizin takip edilmektedir.Chronic bullous disease of childhood, one of the subepidermal bullous diseases is uncommon, and its etiology has not fully understood. A linear deposition of IgA at the epidermal basement membrane on direct immunoflorescence is pathognomonic for the disease. Dapson is commonly used in the therapy. Intravenous immunglobulin is a recent choice in the treatment. A twelve-months old boy was admitted to the hospital with the complaints of mutipl blisters on his face, especially perioral region, buttocks and extremities. Examination of the skin biopsy specimen with direct immunoflorescence method showed linear deposits of IgA along the dermoepidermal junction. In the light of the findings, condition was diagnosed as chronic bullous disease of childhood. Following the intravenous immunglobulin use for treatment, the skin lesions revealed rapid healing within three days

Foreign body aspiration in childhood

Amaç: Solunum sistemine aspire edilen yabancı cisimlerin belirlenip, çıkarılması komplikasyonların önlenmesi açısından önemlidir. Bu nedenle 10 aylık sürede yabancı cisim aspirasyonu süphesi ile klinigimize yatan 22 hasta retrospektif olarak degerlendirildi. Hastalar ve yöntem: Hastaların 16'sı erkek, 6'sı kız ve yasları 11 ay ile 57 ay arasında idi (ortalama 24 ay). En sık basvuru sikayeti; öksürük, hısıltılı solunum ve morarma olup, hastaların sadece 8'i solunum sıkıntısı ile basvurmustu. Olguların 15'inde fizik muayene bulguları, 14' ünde ise akciger grafisi bulguları tanıyı desteklemekteydi. Yabancı cisim öyküsü olan 19 olgunun 14'ünde akciger dinleme bulguları, 11'inde radyoloji pozitif saptandı. Öyküsü olmayan 3 olgunun 1'inde akciger dinleme bulguları varken, hepsinde radyoloji pozitif bulundu. Bulgular: Hastaların 21'inde (%95,5) bronkoskopide yabancı cisim çıkarıldı. Bir olguda yabancı cisim bulunamadı ve bol mukus aspire edildi. Yabancı cisim öyküsü oldugu halde fizik muayenede ve akciger grafisinde herhangi bir bulgusu olmayan 4 olgunun 3'ünde yabancı cisim çıkarılması öykünün öneminin vurgulanması açısından degerli bulundu. Çıkarılan yabancı cisimlerin 15'i organik, 2'si inorganik idi, 2'sinin orijini belirlenemedi. Iki hastada darlık yapan granülasyon dokusu tespit edildi ve bu granülasyon dokuları kürete edildiginde; 1'inde bitkiye benzer materyal saptanırken digerinde granülasyon dokusu içinde yabancı cisime rastlanmadı. Yabancı cisimlerin hastaların 10'unda (%47.6) sol ana bronstan çıkarılması ilginç bulundu. Hastaneye basvuru sürelerine göre olgular klinik, semptomatoloji ve radyolojik bulgulara göre karsılastırıldıgında iki grup arasında sadece radyolojik bulgular açısından anlamlı fark bulundu(p=0.0045). Sonuç: Bu çalısma 6 yas altı çocukluk döneminde yabancı cisim aspirasyonlarının sanılandan daha sık oldugu, yabancı cisimden süphelenmenin ve iyi bir öykünün en önemli tanı kriterleri oldugunun hatırlatılması amacıyla sunuldu.Aim: Determining and removing the aspirated foreign bodies from airways is important in preventing complications. Thus, 22 patients who had admitted to our clinic with the suspicion of airway foreign body within a period of 10 months were retrospectively evaluated. Material and methods: Sixteen patients were boys and six were girls, and their ages differed from 11 to 57 months (median 24 months). The common complaints were cough, wheezing and cyanosis. Only 8 patients were admitted to the hospital with respiratory distress. The physical examination revealed the diagnosis in fifteen of the patiens. On the other hand, the chest roentgenography revealed the diagnosis in thirteen. The foreign bodies were removed by bronchoscopy in 21 patients (95.5%). In spite of positive history, no signs and symptoms were determined by physical examination and chest roentgenography in 3 of 4 patients, the foreign body was removed from airway and it was accepted valuable to stress the importance of history. Results: Fifteen of the removed foreign bodies were organic, 2 were inorganic, and 2 could no be determined. In 2 patients the granulation tissue which had caused obstruction in the airway was curetted and in one patient a plant- like material was obtained. Only in one patient no foreign body was obtained. In 10 patients (47.6%) the foreign body was removed from left main bronchi, in 8 patients (38.1%) from right main bronchi, in 2 patients from trachea and in 1 patient from bilateral bronches. Conclusion: We presented this study to remind that in making the diagnosis of airway foreign body, which is more common in infancy than expected, suspicion and history are the most important diagnostic criteria

Evaluation of musroom intoxications presenting at the emercency department of dr. behçet uz children's hospital

Mantar zehirlenmeleri tüm dünyada sıkça görülen önemli bir sorundur. Eriskinlerde mantar zehirlenmeleri tüm akut zehirlenme vakalarının yaklasık %7'sini olusturmaktadır. Klinik, mantarın cinsine göre hafif bir bulantı kusmadan, karaciger yetmezligine kadar degismektedir. Bu çalısmada, Ocak-Aralık 2002 tarihleri arasında Dr. Behçet Uz Çocuk Hastanesi Acil Servisi'ne mantar zehirlenmesi nedeni ile basvuran 21 olgu retrospektif olarak degerlendirildi. Olguların 11'i (%52) kız, 10'u (%48) erkekti. 21 olgunun 9'unun (%43) 10 yas ve üzerinde oldugu ve 17'sinin (%81) sonbahar aylarında basvurdugu belirlendi. En sık gelis sikayeti; 17 olguda (%81) bulantı ve kusma, 5 olguda (%24) buna ek olarak ishal idi. 7 olguda (%33) kolinerjik semptomlar, 3 olguda karaciger yetmezlik bulguları ve 6 olguda (%28) nörolojik bulgular vardı. Ölüm 3 olguda (%14) karaciger yetmezligi nedeni ile olurken 18 olgu (%85) sekelsiz iyilesti. Sonuç olarak, Izmir ili ve çevresindeki mantar zehirlenmelerinin genellikle 10 yasın üzerinde ve sonbahar aylarında gerçeklestigi ve karaciger yetmezligi gelisenlerin dısında çogunlukla sekelsiz iyilestigi saptanmıstır.Mushroom toxicity is a worldwide concern. In the adult population, mushroom toxicity constitutes seven percent of all acute intoxications. The clinical feature may vary from mild nausea and vomiting to hepatic insufficiency according to the type of mushroom. In this study, we analyzed 21 patients who were seen at the Emercency Department of Dr. Behçet Uz Chıldren's Hospıtal from January 2002 to December 2002. 11 of the 21 patients (52%) were female and 10 of them (48%) were male. 9 of the 21 patients (43%) were older than 10 years and 17 of the 21 patients (81%) were hospitalized in spring. The most common symptoms were vomiting in 17 patients (81%) and diarrhea in 5 patients (24%).We observed cholinergic symptoms in 7 patients (33%), hepatic insufficiency in 3 patients (14%) and neurologic symptoms in 6 patients (28%). Death occured in 3 patients as a result of hepatic insufficiency and the rest of the patients recovered without any sequelae. Mushroom intoxications in Izmir and envira were mostly diagnosed in children older than 10 years and in spring. Most of the patients recovered without any problems, except patients who developed hepatic insufficiency

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168