Severe neurodevelopmental disease caused by a homozygous TLK2 variant

Abstract: A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating variants located throughout the gene, or missense changes principally located at the C-terminal end of the protein mostly resulting in haploinsufficiency of TLK2. Through whole exome sequencing, we identified a homozygous missense variant in TLK2 in a patient showing more severe symptoms than those previously described, including cerebellar vermis hypoplasia and West syndrome. Both parents are heterozygous for the variant and clinically unaffected highlighting that recessive variants in TLK2 can also be disease causing and may act through a different pathomechanism

Is Bilateral Facial Paralysis an Indicator of Respiratory Outcome in Guillain–Barré Syndrome?

Background and objectives: Bilateral facial paralysis is a rare and specific clinical manifestation of various neurological disorders. Bilateral facial paralysis has been reported as an essential feature of Guillain−Barré syndrome (GBS) for many years. We aim to describe the incidence of bilateral facial paralysis and prognosis in our GBS patients. Materials and Methods: A retrospective chart review of all patients with GBS and bilateral facial paralysis who were treated at the Inönü University Medical Faculty was performed. Results: A total of 45 cases of GBS were reviewed. Four out of 45 patients (8.8%) had associated bilateral facial paralysis. Only one of the patients also had acute multiple cranial neuropathies. All patients experienced sudden deterioration and respiratory distress. In one of our patients who had multiple cranial neuropathies, serum antiganglioside antibody assay was performed, and anti-GQ1b IgG antibody positivity was observed. The cerebrospinal fluid had albuminocytological dissociation in all patients, and axonal involvement was present in nerve conduction studies (NCS). Three patients improved with immunotherapy; one patient died due to cardiac arrest after resistant hypotension. Conclusion: Bilateral facial paralysis is a rare condition in children. We wanted to emphasize bilateral facial involvement and poor prognosis in our GBS patients

Efficacy of Levetiracetam Monotherapy in Childhood Epilepsy

Objectives:Levetiracetam (LEV) is an antiepileptic drug approved particularly for treatment of focal seizures. The aim of this study was to investigate efficacy and tolerability of LEV monotherapy in pediatric patients.Methods:In the present study, records of 225 children (aged 1 month-18 years) treated with LEV and with follow-up for at least 1 year were evaluated. Diagnosis of epilepsy included history of 2 or more unprovoked seizures. Demographic characteristics, reason for antiepileptic treatment, dosage of levetiracetam, duration of treatment, antiepileptic drugs used previously, seizure type, seizure duration, cranial magnetic resonance images, electroencephalogram results, seizure etiology, and side effects of the drug were documented.Results:Total of 225 patients, 95 girls and 130 boys, were enrolled in the study. Of those, 125 (55.6%) patients had generalized seizures, 90 (40%) had focal seizures, and 10 (4.4%) had other type of seizures. In treatment, 186 (82.7%) patients remained seizure-free. There was no difference in effectiveness of LEV on partial or generalized epilepsy. Overall, 8 (18%) patients had adverse events. Most common side effects observed were irritability and nervousness. There was no relationship between drug dosage and side effects.Conclusion:LEV monotherapy is effective in childhood epilepsy with focal or generalized seizures. It is well tolerated in spite of mild and transient side effects, which do not require drug discontinuation

Adaptation of the incomplete stories with doll family scale to Turkish children

Bu çalışmada sosyal ve duygusal gelişim kapsamında altı yaş çocuklarının bağlanma biçimlerini belirlemeye yönelik “Tamamlanmamış Oyuncak Bebek Ailesi Hikâyeleri Ölçeği”nin uyarlamasına ilişkin bilgi verilmiştir. Araştırmaya Muş’taki ilköğretim okullarının ana sınıfl arında eğitim gören 60 çocuk katılmıştır. Açımlayıcı faktör analizi sonucunda bulunan tek faktörün açıkladığı varyans % 55,92 olarak hesaplanmıştır. Doğrulayıcı faktör analizi sonucunda sınanan faktör yapısının gerçek verilerle iyi uyum gösterdiği doğrulanmıştır. Ölçeğin güvenilirliliği için iç tutarlılığa bakılmıştır. Bu amaçla Cronbach alfa (.83) ve Spearman Brown iki yarı test korelasyonu (.83) olarak hesaplanmıştır. Bu analizler doğrultusunda ölçeğin, geçerli, güvenilir ve Türk çocuklarına uygun olduğu kabul edilmiştir.In this study, information was given about the adaptation studies of the “Incomplete Stories with Doll Family Scale” which was developed for determining attachment at the age of six in terms of social and emotional development. 60 students from preschool departments of primary schools in Muş Province participated in the study. As a result of exploratory factor analysis, the variance of one factor was computed as 55.92%. Confirmatory factor analysis results confirmed that tested data fit well with the data. Cronbach alpha coeff icient (.83) and Spearman Brown split-half correlation (.83) were computed. As a result of these analyses, it is concluded that the scale is accepted to be reliable, valid, and suitable for Turkish children

Pediatric Wilson’s disease: findings in different presentations. A cross-sectional study

ABSTRACT BACKGROUND: Wilson’s disease (WD) may present with different manifestations: from an asymptomatic state to liver cirrhosis. Here, we aimed to evaluate clinical presentations and laboratory findings and prognoses among WD cases. DESIGN AND SETTING: Cross-sectional study based on patients’ records from the university hospital, İnönü University, Malatya, Turkey. METHODS: The medical records of 64 children with WD were evaluated focusing on the clinical, laboratory and liver biopsy findings in different clinical presentations. RESULTS: The mean age at diagnosis was 8.6 ± 3.26 years (range 3.5-17) and mean length of follow-up was 2.49 years (range 0-9). There were 18 cases (28.1%), 12 (18.8%), 9 (14.1%) and 6 (9.4%) of chronic liver disease, fulminant liver failure, neurological WD and acute hepatitis, respectively. Nineteen (29.7%) were asymptomatic. The most common sign and laboratory finding were jaundice (45.3%) and hypertransaminasemia (85.9%), respectively. The lowest serum zinc level was found in the fulminant liver failure group (P = 0.035). Hepatosteatosis was detected in 35% of the 20 patients who underwent liver biopsy. Among those with hepatosteatosis, 57.1% were asymptomatic. While 35% had copper staining, 25% presented iron accumulation in liver biopsies. Nine cases underwent liver transplantation and seven of these presented fulminant liver failure (77.8%). CONCLUSION: The presentation, symptoms and signs of our cases were similar to those in previously reported series, except for the high proportion of fulminant WD cases. Further studies are needed to clarify the relationship between zinc levels and development of a fulminant course and between iron status and WD

Methemoglobinemia after injection of prilocaine for pre-medication of circumcision

Methemoglobinemia may occur in congenital and acquired circumstances. Acquired methemoglobinemia occurs in individuals exposed to a various of agents. Prilocaine is a local anesthetic agent that is widely used in clinical practice, but as well usage at treatment dosage in infancy can cause methemoglobinemia. We report an infant who became methemoglobinemia after injection of prilocaine and spontaneous recovery with supportive treatment

Severe Complications of Varicella Zoster Virus Infection in Two Children

Infection with Varicella Zoster virus, which is the causative agent of chickenpox, is commonly seen during childhood. It has typically a benign course and can be substantially prevented by vaccination. Rarely, it may result in central nervous system infections. Herein, we report two cases of chickenpox-induced central nervous system infection, one in a refugee. Both patients were not previously vaccinated for varicella. Meningoencephalitis developed in one of the patients due to the varicella. In the other patient, thrombosis developed after meningoencephalitis. This article underlines that, although rare, chickenpox can lead to meningoencephalitis and related serious complications, and highlights the importance of chickenpox vaccination in Turkey where there is a high number of refugees