Abstract Background The aim of this study was to analyze the characteristics of pediatric posterior reversible encephalopathy syndrome (PRES) to determine clinical and radiologic differences between younger and older age groups, and to identify risk factors for development of any neurologic sequelae. Methods The study cohort consisted of confirmed pediatric PRES patients in a tertiary care university hospital from January, 2015, to December, 2020. Demographic and clinical properties, radiological manifestations, and neurologic outcomes were noted. Children aged ≤6 years were compared with those older than 6 years and factors affecting neurologic outcomes were evaluated. Results The most common underlying diseases were oncological (37%) and kidney diseases (29%). Epileptic seizures were the most frequent symptoms at initial clinical presentation. The regions in the brain that were most commonly involved were the occipital region ( n = 65, 96%), the parietal region ( n = 52, 77%), and the frontal lobe ( n = 35, 54%). Magnetic resonance imaging (MRI) findings were consistent with atypical patterns in most of the study cohort (71%). Patients with unfavorable clinical outcomes ( n = 13, 19.1%) had longer initial seizure times and longer encephalopathy times, lower leucocyte and absolute neutrophil counts, and lower neutrophil to lymphocyte ratios. No relationship was found between MRI findings, involvement patterns, and neurologic outcomes. Conclusions No clinically specific differences between two different age groups were found. Atypical imaging manifestations of pediatric PRES in our study had an incidence that was as high as those found in earlier adult studies. Multivariate logistic regression analysis showed that the initial neutrophil to lymphocyte ratio, absolute neutrophil counts, and white cell counts could not predict poor neurologic outcomes.
Alpers-Huttenlocher syndrome (AHS) is an uncommon autosomal recessive mitochondrial DNA depletion disease. The classic clinical triad of progressive developmental regression, liver degeneration, and seizures helps define the disorder, but a wide range of clinical expressions occur. The most common mutations in childhood have been identified in the cytochrome c oxidase Ⅰ and Ⅳ genes. The 7706G˃A missense mutation in the Cox Ⅱ gene was previously reported in one case after postmortem histological study. Consequently, our patient is the first patient diagnosed with AHS with a 7706G˃A missense mutation in the Cox Ⅱ gene while alive. We proposed that 7706G˃A missense mutation is rare and should be more lethal than other mutations that cause Alpers-Huttenlocher syndrome.
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.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.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.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.
Abstract Pseudotumor cerebri syndrome (PTCS) is characterized by raised intracranial pressure (ICP) with no neuroradiological abnormalities. Ocular ultrasound has been in use to measure optic nerve sheath diameter (ONSD), and retinal artery Doppler indices have been used for indirect assessment of ICP by pediatric intensivists. Here, we aimed to evaluate the correlation of the lumbar puncture (LP) opening pressure with the ultrasonographic ONSD and retinal resistive index (RRI) measures in patients with PTCS. And we wanted to find an answer to the following question: Can ultrasonographic ONSD measures serve as a follow-up tool in patients with PTCS? A prospective, single-center, case–control study was performed by pediatric intensive care and pediatric neurology departments. A total of 7 patients with PTCS were evaluated as patient group and 15 healthy children were evaluated as control group. The mean age of patient group was 138.8 ± 43.7 months. The mean right ONSD was 6.7 ± 0.5 mm and the mean left ONSD was 6.7 ± 0.6 mm. The mean right RRI value was 0.73 ± 0.03 and the mean left RRI was 0.73 ± 0.09. For the patient group, ONSD and RRI values of both eyes were statistically significant higher values than for the control group. The mean LP opening pressure was 56.57 ± 16.36 cmH2O. We detected strong, positive, and statistically significant correlations between the LP opening pressure and ONSD baseline measures for both the right eye (r = 0.882, p = 0.009) and the left eye (r = 0.649, p = 0.004). There was no correlation between opening pressure in LP and RRI measurements. We detected a statistically significant decrease in the right ONSD and left ONSD values and visual analog scale scores at the third-month follow-up. Our study results demonstrate that ultrasonographic ONSD measurements can be used as a noninvasive tool for assessment of the ICP at first admission and can be used as a follow-up tool in PTSC patients.
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder that is characterized by pleomorphic features involving many organ systems. Renal manifestations are the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC), and include renal cysts, angiomyolipomas (AMLs) and malignant tumors. In this study, we investigated patients with tuberous sclerosis in our clinic for renal involvement.
Methods
In our clinic, the renal manifestations of children with TSC between 0–18 years of age were evaluated. Age of the first diagnosis, TSC history of family, renal ultrasonography findings of angiomyolipomas and cysts such as size, quantity, location, renal function tests, urinalysis, presence of hypertension, additional organ involvement,and the presence of renal cell carcinoma were assessed.
Results
There were 17 (8 male and 9 female) patients with TSC. The mean age of the patients was 11.6 years and first diagnosis time was 2,3 years. Angiomyolipoma was the most frequent lesion (15 of 17 patients) and twelve of them were bilateral. At the time of diagnosis 3 patients had angiomyolipomas. The sizes of AMLs of the patients were smaller than 5cm. Six patients had also renal cysts and 2 of them with renal cysts had no AML. Additional organ involvement was observed in 3 patients. All of the patients had normal renal function tests and urinalysis.
Conclusion
The most common renal lesions in TSC are angiomyolipomas and kidney cysts. At the time of TSC diagnosis, all the children must be screened for renal involvement and changing of renal findings in TSC with time should not be forgetten since the new findings can be added to old ones.
The numerous antiepileptic drug (AED) withdrawal studies published in the last 40 years have relied mainly on heterogeneous study groups. There is still no general agreement on the criteria to predict safe discontinuation. The goal of this study was to assess the outcome of AED withdrawal in epileptic children.Three hundred and eight children with epilepsy were enrolled, and these patients followed at least 1 year after drug withdrawal. Time to seizure relapse and predictive factors were analyzed by survival methods.Among the 308 patients, 179 (58.1%) were boys and 129 (41.9%) were girls and the mean age at the seizure onset was 60.41 ± 36.54 months (2-144 months). The recurrence occurred in 73 (23.7%) patients. Mental retardation, history of febrile seizure, etiological of epilepsy, abnormal first electroencephalogram (EEG), abnormal neuroimaging findings, and total number of AED before remission were significantly associated with relapse risk according to univariate analysis. In the multivariate analysis, abnormal first EEG and number of AED before remission (polytherapy) were the risk factors influencing seizure recurrence.In our study, recurrence rate was 23.7% in children and most occurred during the 1(st) year. The potential risk factors of recurrence are history of febrile seizure, mental retardation, etiological of epilepsy, abnormal first EEG, abnormal neuroimaging findings, and total number of AED before remission. However, we found abnormal first EEG and polytherapy as risk factors of recurrence in multivariate analysis.
Melkersson-Rosenthal syndrome (MRS) is a rare neuromucocutaneous syndrome characterized by recurrent facial paralysis, orofacial edema and fissured tongue. Oligosymptomatic and monosymptomatic forms are more common than the triad. The presence of two manifestations or one manifestation with granulomatous cheilitis in biopsy is sufficient to make diagnosis of Melkersson-Rosenthal syndrome. We present a 12 years-old male who is diagnosed Melkersson-Rosenthal syndrome.
Pineal gland volume (PGV), which is associated with sleep and circadian rhythm, is known to be changed in some psychiatric disorders such as major depression, mood disorders and schizophrenia. This study aimed to compare the PGV of children with mild and moderate intellectual disability (ID) and healthy children.
Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures with an elevated cerebrospinal fluid/plasma glycine ratio and diagnosed as nonketotic hyperglycinemia. We report these cases as 2 novel homozygous mutations; a missense mutation c.593A>T (p.D198 V) in the glycine decarboxylase gene and a splicing mutation c.339G>A (Q113Q) in the aminomethyltransferase gene were detected. We would like to emphasize the genetic difference of our region in inherited metabolic diseases once again.