The increased intracranial pressure (ICP) syndrome may emerge depending on many different neurological factors and the early diagnosis and treatment are important for the prevention of neurologic ...damage and related mortality. In recent years, the follow-up of increased ICP with non-invasive methods has been rising. In this study, our objective was to determine the significance and any possible correlation between Optic Nerve Sheath Diameter (ONSD) and Near Infrared Spectroscopy (NIRS) in children with increased ICP.
Patients who were hospitalized in our pediatric ICU at Çukurova University Medical Faculty between June 2018 and June 2019 due to the suspicion of increased ICP were included in this study. The demographic characteristics of patients, diagnosis at admission, results of the cranial CT and MRI examinations, and results of the simultaneous ONSD and NIRS measurements were recorded.
A total of 36 patients were included in our study. With respect to the diagnosis, non-traumatic causes were at the forefront in 30 patients (83.3%), and the most common causes were meningoencephalitis (n = 9; 25%) and non-traumatic bleeding (n = 7; 19.4%). Six of the patients were under the age of one year (16.7%), and the mean values of ONSD and NIRS were 4.8 ± 0.7 mm and 71.1 ± 12.4% respectively in this group. Fourteen patients were in the one to ten year age group and the mean values of ONSD and NIRS were 6.1 ± 0.6 mm and 72.7 ± 9.3% respectively. Sixteen patients were over ten years of age (44.4%), and the mean values of ONSD and NIRS were 5.6 ± 0.7 mm and 74.2 ± 16% respectively. There was no correlation between the ONSD and NIRS values (r:0.307; p = 0.068).
Our study showed that ONSD measurements were helpful in children with increased ICP and reflected the increase in ICP. However, our study also demonstrated that ONSD was not in correlation with the NIRS monitoring. We believe that there is a need for further studies focused on the use of ONSD and NIRS in the monitoring of increased ICP.
Background
Sudden onset of unilateral weakness of the upper and lower muscles of one side of the face is defined as peripheral facial nerve palsy. Peripheral facial nerve palsy is often idiopathic ...and sometimes it could be due to infectious, traumatic, neoplastic, and immune causes. This study aimed to report the clinical manifestation, evaluation, and prognosis in children with peripheral facial nerve palsy.
Methods
57 children under 18 years of age diagnosed with peripheral facial nerve palsy at Çukurova University, Balcalı Hospital, between January 2018 and September 2021, were included in the study.
Results
The mean age of the children at the time of diagnosis was 9.6 ± 7, 4 years. Thirty-two (56.1%) of the patients were female and 25 (43.9%) were male. A total of 57 patients were diagnosed with peripheral facial nerve palsy and categorized into many groups by etiology: idiopathic Bell’s palsy in 27 (47.5%), infectious in 11 (19.2%), traumatic in 6 (10.5%), and others (due to congenital, immune, neoplastic, Melkersson–Rosenthal syndrome, drug toxicity, and iatrogenic causes) in 13 (22.8%). Forty-six of the children achieved full recovery under oral steroids within 1–7 months. Four patients with acute leukemia, myelodysplastic syndrome, Mobius syndrome and trauma did not recover and two patients (schwannoma, trauma) showed partial improvement. Five patients could not come to follow-up control.
Conclusion
Peripheral facial nerve palsy is a rare condition in children with different causes. It could be idiopathic, congenital, or due to infectious, traumatic, neoplastic, and immune reasons. So, when a child presents with facial palsy, a complete clinical history and a detailed clinical examination are recommended. Giving attention to the red flag is very important. Peripheral facial nerve palsy in children is considered to have a good prognosis.
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content ...genome-wide small interfering RNA (siRNA) screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised-learning approach, using SYSCILIA gold standard, Cildb3.0, a centriole siRNA screen and the GTex project, identifying 591 likely candidates. Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in KIAA0586. A c.428del base deletion in 0.1% of the general population was found in trans with a second mutation in an additional set of 9 of 163 unexplained JS patients. KIAA0586 is an orthologue of chick Talpid3, required for ciliogenesis and Sonic hedgehog signaling. Our results uncover a relatively high frequency cause for JS and contribute a list of candidates for future gene discoveries in ciliopathies.
Cystic fibrosis (CF) is the most common autosomal recessive disease with fatal outcome in Caucasians with a frequency of 1 in 2500 live births. It is caused by mutations in a single gene on the long ...arm of chromosome 7 encoding a protein called the cystic fibrosis transmembrane regulator (CFTR)1. CF is a progressive disease that involves exocrine glands, lungs, gastrointestinal system, pancreas, liver, kidneys and reproductive system. Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an another rare autosomal recessive neurological disorder characterized by macrocephaly, motor and cognitive decline, ataxia, spasticity and occasional seizures. MLC gene locus has been mapped as MLC 1 gene at chromosome 22q2. In literature, there are only a few reliable reports of concomitant diagnosis of CF and other diseases3,4, whereas, not with MLC. Here we report the case of an Turkish 15-year-old boy with CF and MLC.
Abstract Background The syndrome of malignant migrating partial seizures in infancy is a rare epileptic syndrome with a devastating course characterized by early onset of continuous pharmacoresistent ...multifocal seizures arising from multiple independent sites of both hemispheres with unknown etiology. Patient A 2-month-old boy with the characteristic clinical and electroencephalograph pattern of migrating partial seizures in infancy was treated with potassium bromide. His seizures were unresponsive to the conventional and new generation antiepileptic drugs. Results The seizure frequency was reduced markedly with potassium bromide. Conclusions Potassium bromide, an old antiepileptic drug, is useful in the treatment of malignant migrating partial seizures in infancy.
The aim of this study was to determine the clinical characteristics of children demonstrating neurological complications with pandemic influenza (H1N1). We reviewed the medical and laboratory records ...of all children who were hospitalized with neurological symptoms and who had proven influenza virus infection by reverse transcriptase–polymerase chain reaction on nasal and throat swabs. Eight children aged between 10 months and 7 years had neurological complications due to pandemic influenza (H1N1) and five of them were female. Four of them were previously healthy; there was chronic renal failure (CRF) in one and neurologic disease in three patients. Seven of them had seizure and altered consciousness. Seven of them were followed in pediatric intensive care units. We performed lumbar puncture in four patients and their cerebrospinal fluid examinations showed pleocytosis in one and no cell in three specimens. Neuroimaging was performed in four patients and three of them had abnormalities. We diagnosed aseptic meningitis in one, acute disseminated encephalomyelitis (ADEM) in one, acute necrotizing encephalopathy (ANE) in one, meningoencephalitis in one, and status epilepticus in four patients. All patients were treated with oseltamivir and antiepileptic drugs. One patient with CRF died; four previously healthy patients recovered fully, and three patients who had neurologic disorder returned to their previous neurological status. In conclusion, during pandemic influenza (H1N1) infection, neurological complications may be seen in addition to the respiratory infection. The type of neurological involvement may be variable such as triggering seizure, aseptic meningitis, encephalitis, ADEM, and ANE. Neurological complications frequently recover fully especially in previously healthy children, but sometimes a severe clinical course occurs.
Cardiac manifestations of neurofibromatosis type 1 (NF1) may include hypertension, congenital heart disease, and hypertrophic cardiomyopathy. The aim of this study was to evaluate cardiac ...abnormalities in patients with NF1.
Sixty-five NF1 patients (mean age: 9±4.48 years) were retrospectively studied. Standard electrocardiography and echocardiography were performed in all patients.
Cardiac abnormalities were found in 11 of the 65 patients (15.3%). Five patients had mitral valve regurgitation, 2 patients had secundum atrial septal defect, 1 patient had pulmonary valvular stenosis, 1 patient had ventricular septal defect, 1 patient had tricuspid valve regurgitation, and 1 patient had aortic valve regurgitation.
Cardiac abnormalities have potential long-term hemodynamic consequences that justify an early diagnosis. Thus, for any patient with NF1, a cardiologic assessment is mandatory at the time of diagnosis and with regular follow-up intervals.
Purpose: In various studies low telomerase activity have been shown to have a protective role in some types of cancer. Patients with neurofibromatosis type-1 (NF1) are at risk of developing certain ...types of cancer. Prognosis is generally better in patients with NF1 than those without NF1. In the present study, we aimed to measure telomerase activity in patients with NF1 and in controls.Materials and Methods: Telomerase activity was investigated in peripheral blood samples with human telomerase reverse transcriptase (hTERT) mRNA by using real time reverse transcriptase polymerase chain reaction (RT-PCR) method and Light Cycler 480 system.Results: hTERT expression was investigated in blood samples of 48 patients with a diagnosis of NF1 and in 37 controls. Telomerase activity was positive in 36 of 48 (75%) patients with NF1 and 23 of 37 patients (73%) without NF1. Telomerase activity was positive in 31 of 36 patients (86%) with NF1 having a benign or malignant tumor, whereas it was positive in 5 of 12 NF1 patients (41.6%) without a tumor. Conclusion: Detection of hTERT expression in patients with NF1 can be used as a useful marker for tumorigenesis. Additional studies need to be done to know whether detection of hTERT expression in low-grade tumors would help predict progression to high-grade tumors.
Amaç: Çeşitli kanser türlerinde yapılan çalışmalarda düşük telomeraz aktivitesinin bazı kanser tiplerinde koruyucu etkisi olduğundan bahsedilmektedir. Nörofibromatozis Tip-1 (NF1) hastalarının bazı kanser türleri için yüksek risk altında olduğu bilinmektedir. İlginç olarak NF1 hastalarında ortaya çıkan kanserlerde prognoz genel olarak aynı tanılı NF1 olmayan hastalara göre daha iyi olmakta ve sağkalım daha uzun olmaktadır. Bu çalışmada NF1 hastalarında telomeraz aktivitesinin ölçülerek kronik hastalığı olmayan bireylerdeki değerlerle karşılaştırılması amaçlanmıştır. Gereç ve Yöntem: Telomeraz aktivitesinin belirlenmesi amacıyla hTERT mRNA çalışması periferik kan örneklerinden “real-time reverse transcriptase polymerase chain reaction” (RT-PCR) yöntemiyle ve “Light Cycler 480” sistemi kullanılarak yapıldı.Bulgular: Çocukluk çağında NF1 tanısı almış 48 hasta ve kontrol grubu olarak 37 hastanın kan örneklerinde hTERT ekpresyonu çalışıldı. NF1 hastaları arasında telomeraz aktivitesi 36 hastada (%75) saptanırken telomeraz aktivitesi kontrol grubunda 27 çocukta (%73) pozitif bulundu. Malign veya benign tümörü olan 36 NF1 hastasının 31’inde (% 86) telomeraz pozitifliği mevcut iken herhangi bir tümör saptanmayan 12 NF1 hastasının 5’inde (%41.6) telomeraz aktivitesi pozitif bulundu. Aradaki fark istatistiksel olarak anlamlı idi. Sonuç: NF1 hastalarında benign veya malign tümör gelişimi açısından telomeraz aktivitesi ölçümü tümör belirleyici işlevi görebilir. Düşük dereceli tümörlerde hTERT ekspresyonunun yüksek dereceli tümörlere progresyonu tahmin etmede yardımcı olup olamayacağı konusunda daha fazla çalışmaya ihtiyaç vardır.
Purpose: Clinical and neuroimaging findings, aetiologies,
treatment modalities and durations, response to treatment,
and neurological sequelae of the patients diagnosed with
pseudotumor cerebri were ...reviewed.
Materials and Methods: A total of 27 patients who
followed up in the Department of Pediatric Neurology at
Çukurova Medical Faculty between June 2015 and May
2018 were included in this study. Age, gender distribution,
anthropometric measurements, cerebrospinal fluid
pressures, neurological, ophthalmologic, neuroimaging
and neurological sequelae findings, treatment modalities
and durations, response to therapy of 27 patients were
reviewed retrospectively.
Results: Mean cerebrospinal fluid pressure was
43.29.1cmH2O. The most frequent cause in aetiology
were obesity (33.3%), iron deficiency anemia (18.5%) and
venous sinus thrombosis (14.8%). All patients were treated
with acetazolamid, 59.3% patients received only
acetazolamid and 25.9% of patients received combined
therapy with acetazolamide and topiramate and 14.8% of
patients received combined therapy with acetazolamide
and steroids. Of the patients, 25 had excellent neurological
and ophtalmological outcome with medical treatment.
Conclusion: The most frequently-seen neurological
sequelae in pseudotumor cerebri is permanent visual
impairment This irreversible situation affects the whole life
of child. Therefore it is quite important to think about the
diagnosis of pseudotumor cerebri for the children with
complaints of headache, visual impairment and diplopia,
and to subject them to treatment quickly and properly.