Esra Gurkas

Reduced Retinal Nerve Fiber Layer Thickness and Macular Volume in Pediatric Multiple Sclerosis

Retinal atrophy is well known in adult-onset multiple sclerosis but remains unexplored in children. We aimed to determine retinal nerve fiber layer thickness and macular volume in pediatric patients, with and without optic neuritis and their relations with visual evoked potentials. We also examined macular volume changes at month 12. Retinal nerve fiber layer thickness of all quadrants and macular volume were measured in 28 relapsing remitting multiple sclerosis eyes and 30 control eyes using optical coherence tomography and were found reduced in patients compared with controls. This reduction was more prominent in eyes with longer time interval from optic neuritis. Retinal nerve fiber thickness was lower in eyes with delayed visual evoked potentials. Visual evoked potential amplitudes were reduced in affected eyes compared to patients without optic neuritis. Macular volume reduced nonsignificantly in patients at month 12. Retinal atrophy occurs in pediatric multiple sclerosis, and previous optic neuritis accelerates this atrophy.

Opsoclonus-myoclonus syndrome following rotavirus gastroenteritis.

Opsoclonus–myoclonus syndrome (OMS) is a rare neurologic disorder characterized by opsoclonus, myoclonus, ataxia and behavioral disturbance. In the pathogenesis, an autoimmune process with infectious or paraneoplastic trigger has been suggested. We describe the case of a 22‐month‐old girl with OMS following rotavirus gastroenteritis. Rotavirus should be considered in the differential diagnosis of OMS in children.

Subacute Sclerosing Panencephalitis Presenting as Schizophrenia With an Alpha Coma Pattern in a Child

Subacute sclerosing panencephalitis, a progressive neurodegenerative disorder of the central nervous system, can present atypically with uncharacteristic electroencephalographic (EEG) features at its onset albeit typically with progressive mental deterioration, behavioral changes, and myoclonic jerks. An atypical presentation of subacute sclerosing panencephalitis can lead to a delay in diagnosis, thus hindering early treatment. Herein, we describe a 14-year-old girl who presented with insomnia, amnesia, auditory and visual hallucinations. The patient’s electroencephalography on admission showed an alpha coma pattern. In spite of antipsychiatric treatment (olanzapine 20 mg/d) for 3 months, a progressive deterioration in neurologic function was observed. Subacute sclerosing panencephalitis was suspected and diagnosis was confirmed by increased titers of measles antibodies in the cerebrospinal fluid. The attention of pediatricians should be drawn to psychiatric symptoms as possible initial presentations of subacute sclerosing panencephalitis in order to avoid needless diagnostic and treatment procedures.

Childhood paroxysmal nonepileptic events.

We aimed to determine the types and clinical characteristics of paroxysmal nonepileptic events (PNEs) in children. During a 13-year period, 765 patients underwent long-term video-EEG monitoring, and 95 (12.4%) of them were identified to have PNEs. The most common diagnoses were conversion disorder, parasomnias, staring spells, movement disorders, and hypnic jerks. Paroxysmal nonepileptic events originated from physiologic or organic (43.2%) and psychogenic (56.8%) causes. Mean delay in diagnosis was 3.1 years. Mean ages at diagnosis were 8.8 and 13.8 years in physiologic or organic and psychogenic groups, respectively. A marked female predominance was seen in the psychogenic group, whereas males slightly predominated in the physiologic or organic group. In the physiologic or organic group, events were less frequent, longer in duration, and commonly manifested as subtle motor activity, whereas subtle and prominent motor activities were encountered equally in both groups. Concomitant epilepsy was present in 10.5% of the patients. Differences in clinical characteristics may be helpful in differentiating physiologic or organic PNEs in children from psychogenic PNEs.

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation

Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2. Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement. Here, we report a different clinical course of LTBL supported by typical MRI features in a Turkish patient who presented with a history of failure to walk. The EARS2 gene mutation analysis identified a c.322C>T transition, predicting a p.R108W change. This is the first reported early-onset mild type LTBL caused by a homozygous EARS2 mutation case in the literature.

Predictors of recurrence in Sydenham's chorea: Clinical observation from a single center

OBJECTIVE Sydenhams chorea is the most common cause of acquired chorea in children and is the major manifestation for acute rheumatic fever. Despite being known as a benign, self-limiting condition, recurrences and persistence of symptoms can be seen. In this study, we aimed to evaluate retrospectively the clinical and laboratory features of patients with Sydenhams chorea and the rate and the course of recurrences, and to assess the risk of recurrences. METHODS The study was a retrospective study conducted in a tertiary hospital. Patients with Sydenhams chorea who were admitted to our outpatient clinics between January 2013 and June 2015 were included. Both newly diagnosed and follow-up patients were enrolled during this period. We retrospectively reviewed the medical charts of the patients. RESULTS There were 90 patients with female predominance. The mean age of onset was 11±2.4years. Complete remission was maintained in 77 patients (85.6%) at 1-6months and 4 patients had symptoms at more than 12months. Patients were followed for 6months to 9years. The recurrence rate was 16%. When we compared recurrent patients with the non-recurrent group, complete remission in 6months, the presence of persistent chorea, and regular use of prophylaxis were significantly different between the 2 groups. CONCLUSIONS Sydenhams chorea is still an important health problem and has high morbidity in patients with recurrent and persistent chorea. The irregular usage of antibiotic prophylaxis, failure to achieve remission within 6months, and prolongation of symptoms for more than 1year are risk factors for recurrence of chorea.

Does Nephrotoxicity Exist in Pediatric Epileptic Patients on Valproate or Carbamazepine Therapy

The aim of this study was to investigate the effects of valproate and carbamazepine, on renal glomerular and tubular functions. The patient group comprised 54 children with new-onset epilepsy treated with valproate (n = 30) and carbamazepine (n = 24). Twenty-six healthy children were in the control group. The serum creatinine and cystatin C levels and urinary excretion of N-acetyl-β-d-glucosaminidase (NAG) levels were measured and the glomerular filtration rate (GFR) was estimated. Serum creatinine and cystatin C concentrations were not different between patients and controls. The glomerular filtration rate of the patient groups were higher than those of the control group. Thus, both drugs probably lead to glomerular hyperfiltration and toxicity for glomerular functions. However, urinary N-acetyl-β-d-glucosaminidase/creatinine levels were significantly higher in patients receiving only valproate (6.1 ± 5). The difference between carbamazepine and control groups was not significant for urinary N-acetyl-β-d-glucosaminidase/creatinine levels. Our data suggest that valproate has adverse effects on renal tubular functions.

Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome.

Dear Editor: Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder caused by subtelomeric deletion of a segment of the short arm (p) of chromosome 4. Epilepsy constitutes a major medical challenge especially during the first years of life and occurs in 50–100 % of patients with WHS The conventional antiepileptic drugs such as carbamazepine, phenobarbitale, and valproic acid have been tried and are rarely effective in these patients [1, 2]. Levetiracetam is a new line antiepileptic drug indicated for partial seizures with or without secondary generalization. We would like to share a case experience of WHS successfully treated by levetiracetam. A 12-month-old female infant was referred to our hospital for ongoing feverinduced seizures and developmental delay. She had been delivered by cesarean section at 33 weeks, with a birth weight of 1625 g. She was the second child of healthy, nonconsanguineous parents, with no family history of note. She had intrauterine growth retardation. Developmental milestones were delayed. Her first seizure was generalized tonic-clonic at the age of 6 months, and she was hospitalized at another hospital for seizures for two times and phenobarbitale treatment was initiated at the age of 8 months. She was still on phenobarbitale treatment when she was admitted to our hospital. On physical examination, her body weight, height, and head circumference measurements were below the third percent i le ; she was uncooperated and conscious. Neurological examination revealed hypotonia, continuous head nodding, and delayed motor developmental milestones. Her characteristic facial features were; ocular hypertelorism, short philtrum, BGreek warrior helmet^ appearance of the nose, fish shaped mouth and micrognati (Fig. 1). Electroencephalography showed left temporal spike and wave discharges with a slow background rhythm (Fig. 2). Fluorescence in situ hybridization revealed 46XX, del(4)(p16), and confirmed the diagnosis of Wolf-Hirschhorn syndrome. The cytogenetic analysis from the mother and the father were both normal, showing that the mother and the father were not translocation carriers. Her deletion is approved as Bde novo deletion^. Although she had been receiving phenobarbitale of 5 mg/kg/day for 4 months, she had unilateral right-sided tonic-clonic seizures and epileptic discharges on EEG were still observed. Therefore, levetiracetam was added (dosage of 20 mg/kg/day). She is now 3 years old. Her last EEG is better and she is seizure free after levetiracetam treatment for 2 years. Wolf-Hirschhorn syndrome is a rare subtelomeric deletion syndrome with an incidence of 1/50.000 and a 2:1 female-to-male ratio. There is wide evidence that the WHS core phenotype (growth delay, intellectual disability, seizures, and distinctive craniofacial features) is due to haploinsufficiency of several closely linked genes as opposed to a single gene [3]. Three different genes have been independently described as candidates for WHS. WHSC1 is identified by cosmids 19hl, 190b4, and 184d6 and overlaps the distal boundary of the Wolf* Zeynep Selen Karalok selen_z@yahoo.com

Guillain-Barré syndrome in children: subtypes and outcome

ObjectiveThis study reviews the clinical features, subtypes, and outcomes of childhood Guillain-Barré syndrome (GBS).MethodsFifty-four children who attended a tertiary care training and research hospital in Turkey were enrolled in the study.ResultsThe mean age was 6.5 ± 4.2 years and 32 patients (59.5%) were male. The most common subtype of GBS was acute inflammatory demyelinating polyneuropathy (AIDP), which was seen in 27 patients (50%). Having antecedent history, especially upper respiratory tract infection was significantly more common in AIDP (P = 0.028). Sensorial symptoms were significantly more frequent in axonal type GBS (P = 0.001). When we compare the demyelinating and axonal forms, all of the groups had favorable outcome.ConclusionThe diagnosis of pediatric GBS can be delayed because of its variable presentation. Early admission to hospital and early treatment are important for decreasing the need for respiratory support and improving the outcome.

Reply to “Childhood Peripheral Facial Palsy”

Dear Editor: We would like to thank you for the opportunity to respond to the issues raised in Dr. Calık’s letter and to clarify their concerns. We would also like to thank Dr. Calık and his colleague at Harran University for their interest in our paper and for their valuable input to express their concerns. In our study, we evaluated 144 childhood peripheral facial palsy patients by their sex, family history, grading, and disease outcomes in both idiopathic (Bell’s palsy) and cause-defined facial palsy. At the end of the first year, our recovery rates were 98.3%. In the Bell’s palsy group, no significant difference in recovery outcome was detected between the patients who were treated with or without steroid treatment [1]. We agree that the number of the patients without steroid treatment was lower than that of the patients with steroid treatment in our study; however, this discrepancy did not create a statistical error in comparison analysis. Statistical analysis performed in our study was carefully designed and checked before publication. The main agents used for the treatment of Bell’s palsy are steroids. In the literature, studies with adults support the usage of steroid treatment especially in the early period (i.e., within 72 h) [2–4]. Despite the conclusive evidence of benefits from steroids in adults with Bell’s palsy, childhood studies with the use of steroids to treat Bell’s palsy were not placebo-controlled trials [5, 6]. There was no evidence that supports the usage of steroid treatment in childhood Bell’s palsy [6, 7]. Unüvar et al. randomized trial of steroid use in children with Bell’s palsy from Turkey found no difference at the end of the 12-month follow-up in both treated and non-treated groups [8]. Medical conditions often manifest differently in childhood who also have different responses to treatment when compared to adults; therefore, the findings of adult studies using steroids to treat Bell’s palsy are difficult to extrapolate to children. Indeed, the primary objective of our study was to compare the outcomes of the patients with Bell’s palsy to the patients with definitive etiology in childhood peripheral facial palsy. Our study had many informative results for the literature. This study had one of the largest numbers of childhood peripheral palsy patients. One of the strongest findings of our study was evaluating patients for a long follow-up period and determining the childhood peripheral palsy recurrent attack periods and its prognosis. In our study, we did not mention about the steroid treatment effects in the patients who have recurrent attacks. If we tried to give the results of steroid treatment effects for the patients with recurrent attacks, that could cause a statistical error due to the small number of this group. Also, patients with recurrent attacks consist of both the patients with definitive etiology and Bell’s palsy, which produces heterogeneous groups for the comparison of steroid treatment. In conclusion, usage of steroid treatment in childhood Bell’s palsy is still controversial. Large multicenter randomized trials are needed to define the efficacy of prednisolone treatment when compared to placebo in childhood Bell’s palsy. We hope that an ongoing multicenter, placebo-controlled randomized trial that is conducted by Babl et al. will enlighten our questions [9]. * Zeynep Selen Karalok selen_z@yahoo.com