Temporary tattooing with black henna is becoming increasingly popular among children and young adults. Complications are seen depending on additives added to henna for different purposes. Two sisters, aged 8 and 11, had a temporary tattoo. The tattoos began to disappear after 2 weeks. At the end of a month, pigmentation completely disappeared and hypertrichosis was observed on the site of the tattoo figures. There were no dermatitis findings in both cases. It was observed that hypertrichosis resolved spontaneously in two months. We think that it is meaningful to see the same effect by the same factor in two children with similar genetic background. In addition, knowing this benign complication related to temporary tattooing will prevent unnecessary invasive diagnostic and therapeutic interventions.
Objective: Zinc is an important trace element in terms of children being able to grow and develop normally and to be protected from diseases and it is also essential for most of the enzymes to be able to function normally. In this study, we aimed to evaluate the serum zinc status of children who admitted to our hospital.
Klippel-Trenaunay Weber Sendromu (KTWS) kutanöz vasküler malformasyonlar, kemik ve yumuşak doku hipertrofisi ve varisli damarlar ile karakterize konjenital bir sendromdur. KTWS'de hem periferik hem de viseral tutulum görülebilir ve bu önemli bir morbidite ve mortalite kaynağı olabilir. Pulmoner emboli, tromboflebit, kanama, staz dermatiti ve kutanöz ülserasyon gibi komplikasyonların önlenmesinde erken tanı önemlidir. Kliniğimize olası KTWS tanısı ile 9 günlük yenidoğan sunuldu. Çocuklukta bu hastalığın erken teşhisi önemlidir ve venöz yetmezliği önlemek için uygun destek tedavisi başlatılır.
Çocuklarda Nörometabolik ve Nörodejeneratif Hastalıklarda Öykü, Muayene ve Temel Yaklaşımlar Cengiz HAVALI Kalıtsal Metabolizma Hastalıklarında Laboratuvar İncelemeleri Mehmet Şerif CANSEVER Çocuklarda Temel Radyolojik Görüntüleme Yöntemleri ve Beyin Görüntülemesinde Uygun Yaklaşım Seçimi Derya BAKO Çocuklarda Beyin Manyetik Rezonans Görüntüleme Özge YAPICI Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklara Manyetik Rezonans Görüntüleme Temelli Radyolojik Yaklaşım Derya BAKO Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Manyetik Rezonans Spektroskopi Sinan GENÇ Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklara Genetik Yaklaşım Orhan GÖRÜKMEZ Mitokondriyal Hastalıklarda Heteroplazmi Dinamikleri ve Moleküler Genetik Testlerin Kullanımı Ali TOPAK Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Kardiyak Değerlendirme Mete Han KIZILKAYA Çocukluk Çağı Nörodejeneratif ve Nörometabolik Hastalıklarda Göz Bulguları Asiye EKİNCİ Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Hematolojik Bulgular Bilgen IŞIK Nöroenflamasyon Eren ÇAĞAN Nörodejeneratif Hastalıklar ve İmmün Sistem Eren ÇAĞAN Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Kök Hücre Nakli Bilgen IŞIK Çocukluk Çağı Nörometabolik ve Nörodejeneratif Hastalıklarda Gen Tedavisi Özlem GÖRÜKMEZ OLGU 1 Cengiz HAVALI OLGU 2 Mine Çiğdem ŞENOĞLU OLGU 3 Sevil DORUM OLGU 4 Esra SARIGEÇİLİ OLGU 5 Dilek GÜNEŞ OLGU 6 Rabia TÜTÜNCÜ TOKER OLGU 7 Pembe SOYLU ÜSTKOYUNCU, Songül GÖKAY OLGU 8 Fatma KAYA OLGU 9 Beyza Belde DOĞAN OLGU 10 Sebile KILAVUZ OLGU 11 Ayfer SAKARYA GÜNEŞ OLGU 12 Sevim TÜRAY OLGU 13 Ayşe Ergül BOZACI OLGU 14 Didem SOYDEMİR OLGU 15 Aliye GÜLBAHÇE OLGU 16 Ayfer SAKARYA GÜNEŞ OLGU 17 Elif Perihan ÖNCEL OLGU 18 Emine GÖKSOY OLGU 19 Pınar ÖZBUDAK OLGU 20 Hülya İNCE OLGU 21 Serçin TAŞAR OLGU 22 Habibe KOÇ UÇAR, Berrak BİLGİNER GÜRBÜZ OLGU 23 Rabia TÜTÜNCÜ TOKER OLGU 24 Gülhan KARAKAYA MOLLA OLGU 25 Ayşenur METİN OLGU 26 Gülşah KALAY OLGU 27 Canan ÜSTÜN OLGU 28 Zeynep Beyza KUŞKU OLGU 29 Özgen HÜR OLGU 30 Beyza Belde DOĞAN OLGU 31 Cumali ALAN OLGU 32 Pınar ÖZBUDAK OLGU 33 Serkan KIRIK OLGU 34 Ayşe Nur COŞKUN OLGU 35 İpek DOKUREL ÇETİN OLGU 36 Sevim TÜRAY OLGU 37 Mutluay ARSLAN OLGU 38 Selen HAS ÖZHAN OLGU 39 Hilal AYDIN OLGU 40 Gül YÜCEL OLGU 41 Esra ÜLGEN TEMEL OLGU 42 İlknur CANKURT OLGU 43 Beyza Belde DOĞAN OLGU 44 Çağatay GÜNAY OLGU 45 Aliye GÜLBAHÇE OLGU 46 Dilek GÜNEŞ OLGU 47 Asburce OLGAC OLGU 48 Mehtap KAĞNICI OLGU 49 Nazlı Balcan KARACA OLGU 50 Halil ÇELİK OLGU 51 Esra SARIGEÇİLİ OLGU 52 Serap BİLGE OLGU 53 Hakan ERÇELEBİ OLGU 54 Gül YÜCEL OLGU 55 Asburce OLGAC OLGU 56 Emine Gülben YURDAGÜL OLGU 57 Berrak BİLGİNER GÜRBÜZ, Habibe KOÇ UÇAR OLGU 58 Fatih Mehmet Akif ÖZDEMİR OLGU 59 Özge TOPTAŞ DEDEOĞLU OLGU 60 Fatih Mehmet Akif ÖZDEMİR OLGU 61 Şeyma Nur KARATAŞ OLGU 62 Sevil DORUM, Cengiz HAVALI OLGU 63 Gamze AYVAZOĞLU Nörometabolik Hastalıklar ve Karaciğer Nilüfer ÜLKÜ ŞAHİN OLGU 64 Didem SOYDEMİR
P ediatric autoimmune neuropsychiatric disorders that are associated with streptococci (PANDAS) are significant concerning possible complex history of the disease and relation to Streptococcus pyogenes (group A streptococcus -GAS) infection, tics, obsessive-compulsive disorders (OCD) and Sydenham's chorea (SC) as a neurological sign of acute rheumatic fever (ARF). [1]There used to be many confusing clinical situations before the discovery of PANDAS, but as Dr. Susan Swedo described the first 50 cases (Swedo et al. 1998), these patients, similar to SC, were distinguished from the cases with tic disorders and OCD.For this purpose, five diagnostic criteria were defined to define PANDAS by evaluating other criteria and studies related to SC and OCD: [1,2] 1. Obsessive-compulsive disorder and/or tic disorder (Tourette, chronic motor or vocal tic disorder) Pediatric onset (between 3 years-onset of puberty)Paediatric autoimmune neuropsychiatric disorders associated with streptococci (PANDAS) are important neuropsychiatric disorders in childhood.Streptococcus pyogenes infection associated with tics, obsessive-compulsive disorders, and chorea co-occurrence is important.Swedo et al. have increased the awareness of this situation since 1998.How streptococcal infections give rise to this condition is not clear yet, but the severity of the symptoms is reduced by the treatment of streptococcal infections is important.Eight-year-nine-month-old girl presented with complaints of a 2-year history of upper respiratory tract infections and increased severity of blinking of eyes, throat cleaning, tic disorder and obsession with hand cleaning.In addition, choreiform movements were present and fluoxetine did not improve the symptoms.The patient was followed-up and treated with PANDAS pre-diagnosis.Streptococcus treatment and prophylaxis decreased the patient's complaints.A six-year-four months old boy, admitted with abnormal hand and body movements, which increased severity after the school period, and causing deteriorated fine motor skills during infectious periods for two years.There were also complaints with vocal tics and obsessive-compulsive disorder in the form of throat cleaning.Treatment of S. pyogenes was administered in throat culture.After the penicillin prophylaxis, the complaints decreased.In this study, two patients were presented with choreiform movements, obsessive-compulsive disorder and tic disorder due to follow-up PANDAS diagnosis.PANDAS should be considered in children with neuropsychiatric disorders, especially symptoms associated with infection periods.
Hereditary angioedema (HAE) is characterised by recurrent episodes of angioedema and can be fatal.The present study aimed to screen HAE.A total of 60 individuals were screened. The frequency and severity of symptoms were scored from 0 to 8. Measurements were taken of C4 and C1 esterase inhibitor protein (C1-INH) levels. Mutation in the C1 inhibitor gene was examined in 9 patients with HAE.A positive correlation between the C1 esterase inhibitor protein levels and C4 level was detected in the group as a whole (p < 0.001, r = 0.725, n = 60). Anegative correlation between the C1 esterase inhibitor protein level and severity score was observed in the whole group (p < 0.001, r = -0.486, n = 60). A negative correlation was also detected in the entire group between the C4 level and severity score (p = 0.002, r = -0.389, n = 60). In the patients with HAE, a positive correlation between the C1 esterase inhibitor protein level and C4 levels was detected (p = 0.034, r = 0.705, n = 9). A heterozygous c. 601A > T nonsense variant was identified at the C1 esterase inhibitor gene-SERPING1-in patients with Type 1 HAE.It is well known that there is a prolonged delay in the diagnosis of HAE. The present study demonstrates that it is very important and even life-saving to screen for HAE on the basis of an index case.
Background Congenital myasthenic syndromes (CMS) are a group of hereditary diseases of the neuromuscular junction. CMS are extremely rare diseases that cause hypotonia; however, scoliosis may theoretically be helpful in early diagnosis of CMS. The objective of this study was to emphasize the clinical features of the patients we followed up with the diagnosis of CMS and demonstrate that scoliosis is an important finding in the diagnosis of CMS in the presence of hypotonia/weakness. Materials and methods In this retrospective study, data were retrieved by examining the digital files of the patients who presented to Aydın Maternity and Children's Hospital and Elazığ Fethi Sekin City Hospital Pediatric Neurology Clinics between 2018 and 2023. The diagnosis of CMS was strongly supported by a combination of clinical characteristics, neurophysiological studies, genetic tests, AChR antibodies, and serum creatine kinase measurement. The presence of scoliosis was evaluated by an orthopedics and traumatology specialist. Results Eleven CMS patients with accompanying scoliosis were included in the study. The mean age of the patients was 69.4±39.28 months. The age of the patients at the time of diagnosis was 42.7±35.19 months. Among the patients, eight were males (72.7%), and three were females (27.2%). Seven patients (63.6%) had COLQ mutations. Electromyography was conducted on eight patients, with one of them showing no pathological findings, while seven exhibited decremental responses. All patients had ptosis, while six (54.5%) had bulbar signs. Ten patients (90.9%) had weakness. Nine patients (81.8%) experienced frequent recurrent lower respiratory tract infections. Both the patient with CHAT mutation and RAPSN mutation had arthrogryposis. Conclusion In this study, CMS stands out as an essential consideration in the differential diagnosis, particularly when scoliosis accompanies early-onset muscle weakness.
Araknoid kistler, beyin veya omurilik ile araknoid membran arasında bulunan, iyi huylu, beyin omurilik sıvısı dolu keseciklerdir. Genellikle araknoid kistler, beyin görüntülemesinde tesadüfen saptanırlar, ancak bazen genişleme veya kanama nedeniyle semptomlara neden olabilirler. Bu yazıda son 1 yıldır giderek artan baş ağrısı ve eşlik eden görme bulanıklığı tarif eden 16 yaşında erkek hasta sunulmuştur.