Deficiency of adenosine deaminase 2 as an unrecognized cause of early-onset stroke and cranial nerve palsy.

OBJECTIVE: The aim of this study is to evaluate the clinical, laboratory, and radiological findings and prognosis of patients with adenosine deaminase 2 deficiency (DADA2) and to highlight the conditions that DADA2 should be considered in the differential diagnosis in patients with neurological findings. METHODS: A case series of six DADA2 patients was presented in this retrospective, descriptive study. Clinical and laboratory data, treatment protocols, and prognosis of the patients were recorded. A diagnosis of DADA2 was established by ADA2 enzyme activity assay and/or ADA2 gene sequencing. RESULTS: Six patients with DADA2 were included in the study. The median age at symptom onset was 6.5 years (range 3.5-13.5 years). The median time to diagnosis from the initial presentation was 9 (3-72) months. Consanguinity was present in the families of 4 cases. The skin, nervous system, and musculoskeletal system were the most commonly involved systems. Vasculitis mimicking polyarteritis nodosa (PAN) was the predominant phenotype (n=4) in our case series. Four patients with PAN-like features had neurological involvement. Ischemic strokes were found in 3 patients, cranial nerve palsy in 2 patients, and seizures in 2 patients. The CECR1 gene was analyzed in all patients. We analyzed plasma ADA2 enzyme activity only in one patient. Anti-tumor necrosis factor (TNF)-α therapy was initiated. Inflammation was suppressed and remission was achieved in all patients. CONCLUSION: DADA2 should be considered in patients with PAN-like disease, a history of familial PAN/vasculitis, early-onset strokes/neurological involvement with systemic inflammation. Furthermore, anti-TNF-α therapy appears to be beneficial for the treatment of DADA2.

An infant who suffered seizures many times after pentavalent vaccination: A case report.

Although rare, serious adverse effects may be seen after vaccination. Especially, the whole-cell pertussis vaccine has been held responsible for neurological side effects, as the most important problem in vaccination. With the advancement in vaccination technologies, whole-cell pertussis vaccine has been replaced by acellular pertussis vaccine, and neurological side effects have been significantly reduced. Herein, we present a 2-month-old male infant who suffered from generalized tonic-clonic seizures many times, possibly due to acellular pertussis after pentavalent vaccination, including diphtheria, acellular pertussis, tetanus, inactive polio, Haemophilus influenzae type B, and conjugate pneumococcal vaccine (BCG, DaBT-IPA-Hib, CPV).

Ambulatory blood pressure abnormalities in children with migraine.

BACKGROUND: Although there are data showing that the frequency of hypertension increases in adults with migraine, there has been no study on this subject in children. In this study, we aimed to evaluate the presence of hypertension in children with migraine by performing ambulatory blood pressure monitoring (ABPM). METHODS: Thirty-seven children diagnosed with migraine and 30 healthy controls were evaluated between January 2015 and March 2016. Demographic data, clinical and laboratory features, and physical examination findings were recorded for both groups. Office blood pressure was measured for all children, and each also underwent ABPM. The two groups were compared in terms of ambulatory blood pressure parameters. RESULTS: The mean age was 13.3 and 13.1 years and the proportion of females was 73% and 60% in the migraine and control groups, respectively. Although the frequency of hypertension was not higher, abnormal ABPM patterns were found to be significantly more frequent in the migraine group (migraine, 45.9%; control, 16.7%; p, 0.018). Nighttime mean arterial blood pressure, nighttime diastolic blood pressure, and non-dipping pattern were higher in children with migraine than those in the control group (p < 0.05). CONCLUSIONS: These results suggest that ambulatory blood pressure abnormalities may be present in almost half of patients with migraine. Therefore, we suggest that ABPM should be performed even if the office blood pressure measurements of children diagnosed with migraine are normal.

Characteristics of the knowledge and attitudes of medical students about epilepsy.

Epilepsy is one of the most common neurological diseases in the world. False knowledge and attitudes related to epilepsy both complicate the social lives of patients and adversely affect their academic development. The aim of this study was to investigate the knowledge and attitudes of the medical students about epilepsy. Seven hundred twenty-three students participated in the study. A questionnaire including demographic information and Epilepsy Knowledge and Attitude Scales was given to the students. The first 3 years students were accepted as preclinical group, and the last 3 years were accepted as clinical group. Previously, the rate of hearing about epilepsy was 87.8%, and the reading rate was 69%. Both hearing and reading rates were higher in the clinical group. The total knowledge score was higher in all groups who had heard and read about epilepsy, witness an epileptic seizure, and know someone with epilepsy. The total attitude score did not change with witness an epileptic seizure and know someone with epilepsy. Though total knowledge score was similar between genders, total attitude score was higher in males. Although the total knowledge score was higher in the clinical group, the total attitude score was similar.

Mild hypotonia and recurrent seizures in an 8-month-old boy: Questions.

Hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder which manifests in early infancy with generalized seizures, other symptoms of neuromuscular irritability, and growth disturbances. Homozygous mutations in the magnesium transporter gene, transient receptor potential melastatin 6 (TRPM6), cause the disease. Here, we present an 8-month-old Turkish boy with a novel mutation of TRPM6. The patient, son of first-degree cousins, was hospitalized because of recurrent seizures and mild hypotonia. He had seizures since the newborn period and he had been treated with phenobarbital but there was no favorable response to therapy. His past history also revealed hypocalcemia detected on the newborn period but serum magnesium levels were not studied at that time. During hospitalization, we detected hypocalcemia, hypomagnesemia, and normal parathormone levels. Abdominal ultrasound was normal. Magnesium excretion was slightly increased. Considering the consanguinity of the parents and clinical features of the patients, genetic testing of the TRPM6 gene was performed and a novel homozygous mutation was detected as c.3178A>T. He was started on magnesium and calcium supplementation and he is symptom-free for 1 year. We would like to call attention to the measurement of serum magnesium levels in children with hypocalcemic convulsions. Early and appropriate treatment with magnesium supplementation is crucial.

Effects of antiepileptic drugs on dynamic thiol/disulphide homeostasis in children with idiopathic epilepsy.

PURPOSE: Anti-epileptic drugs have been widely used in children with epilepsy. Although several studies have investigated the role of oxidative stress and the effects of antiepileptic drugs on several oxidative markers in epilepsy, adequate information is not available on this issue. This study aimed to investigate the changes in thiol disulphide homeostasis in children with epilepsy under two commonly prescribed AED monotherapies, carbamazepine and valproic acid. METHODS: A hundred and one children with epilepsy using valproic acid or carbamazepine and 58 healthy children were included in this study. Of the 101 patients with idiopathic epilepsy, 58 were on valproic acid monotherapy and 43 patients were on carbamazepine monotherapy. The total thiol, native thiol, and disulphide levels were measured and the disulphide/native thiol, disulphide/total thiol and native thiol/total thiol ratios were calculated in both groups. RESULTS: The total thiol and native thiol levels of the valproic acid treated group were significantly lower than the control group (p < 0.05). The native thiol level of carbamazepine treated group was lower than the control group without a significance (p = 0.123). Disulphide level, disulphide/native thiol and disulphide/total thiol ratios were significantly higher and native thiol/total thiol ratio was significantly lower in both valproic acid and carbamazepine treated group compared with the control group. CONCLUSION: Thiol/disulphide homeostasis is impaired in children with idiopathic epilepsy using valproic acid or carbamazepine. Valproic acid which is frequently used in childhood epilepsy may modify this balance more than carbamazepine monotherapy. More importantly, the new method used in our study proposes a promising, practical and daily applicable test for evaluating oxidative stress in these patien.

Characteristics of the knowledge and attitudes of parents about epilepsy.

AIM: The aim of the study was to identify the knowledge and attitudes of parents about epilepsy. METHODS: Our study was conducted as a questionnaire study with 1200 parents. The demographic information of the participants, their answers to general questions about epilepsy, and their self-reported epilepsy knowledge scale and epilepsy attitude scale data were evaluated. RESULTS: A total of 746 (62.2%) mothers and 454 (37.8%) fathers participated in the study. The mean age was 36.3 ±â€¯9.2 years. The educational level was high school or higher in 65.3%. The mothers and the fathers had similar epilepsy knowledge levels and epilepsy attitude characteristics. The highest epilepsy knowledge level and the best attitudes about epilepsy according to the educational level was in the "university or higher" group. Moreover, a positive correlation was found between the epilepsy knowledge level and positive epilepsy attitudes of the parents. CONCLUSION: A more positive attitude and better knowledge about epilepsy with increasing educational level indicate that negative attitudes are caused by lack of information. Positive attitudes in the society toward patients with epilepsy would be expected to increase by ensuring a sufficient level of knowledge about epilepsy.

Dynamic thiol/disulphide homeostasis in children with febrile seizure.

PURPOSE: Febrile seizure (FS) is the most common type of seizure in children and its etiopathogenesis is still not fully understood. We aimed to investigate the thiol/disulphide balance in children who had experienced FS in our study. METHODS: We included 40 FS and 40 control group subjects in the study. The total thiol, native thiol, and disulphide levels were measured and the disulphide/native thiol, disulphide/total thiol and native thiol/total thiol ratios were calculated in both groups. RESULTS: The mean age and gender distribution of the patients and control group subjects were similar. The total thiol level was lower in the FS group than the control group with no statistical significance (p = 0.123). Native thiol was significantly lower in the FS group than the control group (p = 0.031). The disulphide level and the disulphide/native thiol and disulphide/total thiol ratios were statistically significantly higher in the FS group than the control group while the native thiol/total thiol ratio was lower. CONCLUSION: The fact that the disulphide level was higher and the native thiol level lower in the FS group than the control group suggests that the thiol/disulphide balance may have shifted in favor of oxidants and that oxidants may have a role in FS pathogenesis.

Headache in children and dynamic thiol/disulfide balance evaluation with a new method.

Headache is one of the most common causes of presentation to the physician in children. We aimed to evaluate the dynamic thiol/disulfide homeostasis with a new method in children with headache and also to investigate the relationship between the headache type, pain severity and duration in our study. We included 40 patients diagnosed with migraine, 40 patients diagnosed with tension-type headache (TTH) and 40 healthy children in the study. No significant difference was found between the total thiol, native thiol, and disulfide levels of the patient and control groups. However, the disulfide/native thiol and disulfide/total thiol ratios were higher in the migraine group than in the TTH and control groups. No correlation was found between the Pediatric Migraine Disability Assessment (PedMIDAS) score and the headache duration and any of the thiol/disulfide parameters. A negative correlation was found between the total thiol and native thiol levels and the PedMIDAS score in the TTH group. Migraine and TTH patients have different effect to thiol/disulfide homeostasis.

Can heart rate variability in children with epilepsy be used to predict seizures?

PURPOSE: The aim of this study was to examine interictal, pre-ictal and ictal autonomic system disturbance by comparing heart rate variability in children with uncontrolled epilepsy with that seen in healthy controls and children with controlled epilepsy. METHODS: Our study group included 20 children with refractory epilepsy, our control groups were composed of 20 children with well-controlled epilepsy and 20 healthy children. All subjects were evaluated by Holter ECG monitoring and 12-lead ECG to assess heart rate variability and QTc dispersion. The study group was also evaluated by Holter ECG during seizures. RESULTS: The study group exhibited significantly more pathological QTc dispersion than did the control groups. Heart rate variability was significantly suppressed: reduced parasympathetic activity with lower low frequency (LF) and high frequency (HF) band values were observed in the study group. Findings were similar in the well-controlled epilepsy group and the healthy group but differed from the uncontrolled epilepsy group. The examination of heart rate variability parameters during and before seizures revealed higher nLF and LF/HF ratio and lower nHF values demonstrating increased sympathetic activity. CONCLUSION: We suggest that children with refractory epilepsy have abnormalities of autonomic nervous system functioning which could be linked to the increased risk of sudden unexpected death seen in the patient group. It is possible that a chronically reduced vagal tone predisposes patients to a more dramatic stress response during their seizures. It is possible that heart rate variability parameter arising prior to seizures could be used to predict future seizures.

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.

Cerebral blood flow abnormalities in children with Sydenham's chorea: a SPECT study.

Functional imaging studies in patients with Sydenhams chorea have suggested brain perfusional abnormalities. In this study, we aimed to investigate the cerebral perfusion patterns of the cortical/subcortical structures by using Tc-99m hexamethylpropylenamine oxime single photon emission computed tomography in children with Sydenhams chorea, accompanied with magnetic resonance imaging and cranial Doppler studies. Brain MRI and Doppler studies of the all cases were normal. In the brain SPECT study, six patients were determined to have cerebral perfusion abnormalities. Although six patients responded well to the therapy, two girls who had hypoperfusion in the right frontal region as well as hypo- / hyperperfusion in the basal ganglia did not respond to therapy. While the chorea form of the patients who have cerebral perfusional abnormality was generalized, the clinical picture of the patients with normal cerebral perfusion was in the form of hemichorea.