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1.
Epilepsy Behav ; 116: 107793, 2021 Feb 04.
Artículo en Inglés | MEDLINE | ID: mdl-33549940

RESUMEN

OBJECTIVE: It is argued that early and adequate treatment of electrical status epilepticus in sleep (ESES) is essential to preserve cognitive functions and possibly recovering lost skills. Although antiepileptic drugs (AEDs) are effective in ESES, there is not much experience in the use of sulthiame. In this study, we aimed to examine the efficiency and tolerability of sulthiame in ESES. METHODS: The data of 39 patients diagnosed as ESES and who received sulthiame as an additional treatment between 2016 and 2020 were reviewed retrospectively. Electroencephalographic (EEG) findings and seizure rates were compared before and after the sulthiame treatment. RESULTS: The mean age was 8.5 ±â€¯4.1 (1.5-16 years). Nine out of 39 patients had benign childhood focal epilepsies. Structural causes were identified in 13 patients. The mean duration of sulthiame use was 32.5 ±â€¯13.7 months. After sulthiame treatment, 25 patients (64.1%) were seizure free, and 8 (20.5%) had more than a 50% decrease in seizure frequency. The mean seizure-free time after the sulthiame treatment was 27.8 ±â€¯17.9 months. Nineteen patients (48.7%) had complete, and nine patients (23.1%) had partial EEG improvement. Complete seizure control was significantly higher in benign focal epilepsy of childhood (p = 0.01). Significant neurocognitive and behavioral recovery, improvement in school performance was observed following sulthiame treatment (p < 0.001). CONCLUSION: Sulthiame was found to be effective in seizure control and EEG improvement in ESES. We think that the use of sulthiame alone can be a good choice with high efficacy and tolerability in ESES.

3.
Brain Dev ; 42(10): 756-761, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32747156

RESUMEN

BACKGROUND: Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions syndrome I. This disorder is a severe autosomal recessive disease with onset in early infancy. It is characterized by disruption of the energy metabolism, resulting in weakness, neurological regression, hyperglycinemia, lactic acidosis, and early death. PATIENT DESCRIPTION: This report documents the case of a 27-month-old girl, who showed clinical signs and symptoms of spastic paraparesis with a relapsing-remitting course. The patient had a sister with a severe phenotype who died at the age of 16 months. RESULTS: Magnetic resonance imaging revealed hyperintensity of the cerebral white matter that was more prominent in the frontal regions, with milder involvement in the posterior periventricular regions. There was also evidence of partial cystic degeneration and cavitation in the frontal regions. In addition, she had hyperglycinemia. Homozygous NM_001002755.4:c.565G>A (p.Gly189Arg) mutation was identified in the NFU1 gene; this had not previously been reported as homozygous. CONCLUSION: Hyperglycinemia and cavitating leukodystrophy are suggestive of an NFU1 mutation diagnosis. An intrafamilial phenotypic variation has not been published in NFU1-associated disorders before. Presenting with spasticity as a rare phenotype, NFU1 mutations could be considered a genetic mimic of cerebral palsy.

4.
Epilepsy Behav ; : 107320, 2020 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-32839145

RESUMEN

AIM: The aim of this study was to assess sleep architecture and sleep problems among three homogenous groups of children including children with drug-resistant focal epilepsy, children with newly diagnosed, drug-naïve focal epilepsy, and healthy children using overnight video-polysomnography (V-PSG) and a sleep questionnaire. METHODS: We compared sleep architecture among 44 children with drug-resistant focal epilepsy, 41 children with newly diagnosed, drug naïve focal epilepsy, and 36 healthy children. All children underwent an overnight V-PSG recording, and their parents completed the Children's Sleep Habits Questionnaire (CSHQ). Sleep recordings were scored according to the American Academy of Sleep Medicine criteria. RESULTS: Compared with children with newly diagnosed epilepsy and healthy controls, children with drug-resistant epilepsy receiving antiepileptic treatment showed disturbed sleep architecture, a significant reduction in time in bed, total sleep time, sleep efficiency, NREM3%, REM%, and a significant increase in awakenings, wake after sleep onset, and periodic leg movement. Children with drug-naïve, newly diagnosed focal epilepsy showed a statistically significant increase in sleep onset latency, rapid eye movement (REM) latency, N1%, awakenings, and a significant decrease in time in bed when compared with the controls. Children with drug-resistant epilepsy had the highest CSHQ total scores, while children with drug-naïve, newly diagnosed focal epilepsy had higher scores than healthy children. CONCLUSION: This is one of the few polysomnographic studies adding to the limited research on the sleep macrostructure of children with drug-resistant epilepsy compared with children with drug-naïve, newly diagnosed focal epilepsy and healthy children by obtaining objective measurements of sleep concurrently with a validated questionnaire. Children with drug-resistant epilepsy had a greater incidence of sleep disturbance on the basis of qualitative aspects and architecture of sleep than children with newly diagnosed epilepsy, suggesting the need for referral of children with drug-resistant epilepsy for overnight sleep evaluation in order to improve the clinical management and optimize therapeutic strategies.

5.
Acta Neurol Belg ; 2020 Aug 18.
Artículo en Inglés | MEDLINE | ID: mdl-32809122

RESUMEN

Subacute sclerosing panencephalitis is a rare, devastating neurodegenerative encephalitis whose diagnosis and therapy are still in question. Atypical clinical presentation and heterogeneity of neuroimaging findings that have been initially confused with metabolic disorders have hampered early diagnosis. To describe a series of patients with subacute sclerosing panencephalitis with imaging findings mimicking metabolic disorders. A total of six patients with subacute sclerosing panencephalitis were diagnosed from January 2012 to December 2016 in whom a metabolic disorder was suspected on initial clinical and MRI findings. Detailed laboratory investigation was performed in all patients. All patients presented with atypical neurologic manifestations, including dystonia, syncopal attacks, involuntary limb movements, meaningless speech and ataxia. Magnetic resonance imaging abnormalities included bilateral putaminal, bilateral posterior periventricular white matter and diffuse or splenial corpus callosum involvement which are particularly unusual in SSPE and mostly observed in metabolic disorders. All patients had elevated cerebrospinal fluid Ig G measles antibodies. The diagnosis of subacute sclerosing panencephalitis through clinical and imaging features can be considerably challenging. It is crucial to differentiate it from metabolic disorders, since the management and clinical outcome are different.

6.
Eur J Paediatr Neurol ; 28: 228-236, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32855042

RESUMEN

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, paediatric-onset, neurodegenerative disorder characterised in its early stages by language delay, seizures and loss of motor function. It is rapidly progressive and ultimately results in the premature death of patients. We aim to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and increase disease awareness among clinicians in order to facilitate early diagnosis and treatment of patients with disease-modifying enzyme replacement therapy. We obtained MRI scans from 12 Turkish children with CLN2 disease, at symptom onset or time of diagnosis, and at various times during disease progression. Patient details including age at onset of symptoms, age at diagnosis and clinical presentation were collected. MRIs were analysed to identify common features present in patients with CLN2 disease. The median diagnostic delay in this cohort was 2 years, highlighting the need for increased disease awareness among clinicians. Key MRI features suggestive of CLN2 disease that were identified included cerebellar atrophy in 11 patients, linear hyperintensity of central white matter in 10 patients, cerebral atrophy in 8 patients and thinning of the corpus callosum in 6 patients. Thalamic hypointensity was seen in 1 patient and may also indicate CLN2 disease. It is important to consider the presenting symptoms alongside clinical test results in order to support early diagnosis of CLN2 disease. Clinical suspicion of CLN2 disease accompanied by the detection of any of the above-mentioned features on MRI should encourage healthcare professionals to test for CLN2 disease.

7.
Brain Dev ; 42(8): 572-580, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32600842

RESUMEN

AIM: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. MATERIAL AND METHODS: Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described. RESULTS: Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Four different homozygous variants were found in the SLC19A3. Two patients with early infantile form presented with encephalopathy, dystonia, and refractory seizure in the neonatal period and have different variants. Their MRI findings were similar and pathognomonic for the early infantile form. Three siblings had same variants: one presented seizure and encephalopathy at the age of 4 months, one presented seizure at 14 years, and another was asymptomatic at 20 years. Only one of them had normal MRI findings, and the others MRI findings were similar and suggestive of the classic form. Other two siblings; one of them presented with developmental delay, seizure, and dystonia at 18 months and the other presented with subacute encephalopathy and ataxia at 20 months. Their MRI findings were also similar and suggestive of the classic form. CONCLUSION: BTBGD may present with dissimilar clinical characteristics or remain asymptomatic for a long time period even in a family or patients with same variants. Brain MRI patterns may be important for the early diagnosis of BTBGD that would save children's lives.

8.
Turk J Pediatr ; 62(2): 320-325, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32419427

RESUMEN

BACKGROUND: Enteroviruses-associated acute necrotizing encephalopathy (ANE) of childhood is rarely reported in the literature. Clinico-radiological features of ANE are well-recognized and bilateral thalamic nuclei are frequently affected by ANE. Neuropsychiatric symptoms are rarely seen. Thalamic damage can cause psychosis. CASE: Herein, we present a pediatric case of enterovirus-associated ANE presenting with psychosis related to thalamus damage in whom a favorable response to treatment was achieved. CONCLUSION: Thalamic damage occurs during the Enteroviruses-associated acute necrotizing encephalopathy and it can be related psychiatric sympthoms. Clinicians should be aware of uncommon presentations of ANE, and patients with thalamic damage should be followed for neuropsychiatric manifestations. Early recognition and appropriate treatment of ANE is important to obtain favorable outcomes.

9.
Seizure ; 79: 44-48, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32416566

RESUMEN

INTRODUCTION: Benign epilepsy of childhood with centrotemporal spikes (BECTS) is one of the most frequently seen epileptic syndromes in childhood. It is characterized by centrotemporal spikes (CTS) on electroencephalography (EEG) that are typically activated by drowsiness and stage N2 sleep. The location, frequency, and amplitude of the spikes may vary in different EEG records of the same patient, supporting the presence of a global pathology rather than a focal one. Despite the well-known relation between BECTS and stage N2 sleep, the results of sleep studies have been diverse and have mainly focused on sleep cycles. The characteristics of sleep spindles in the interictal periods have not been studied well. METHODS: A retrospective study involving patients with BECTS who were admitted to the Gazi University, Faculty of Medicine, Department of Pediatric Neurology from January 2017 to October 2018 was conducted herein. Patients with BECTS and age-matched controls who had stage N2 sleep records of 10 min were enrolled for spindle amplitude (peak-to-peak difference in spindle voltage), frequency (number of waveforms per second), and duration and density (number of spindle bursts/minute of stage N2 sleep). RESULTS: A total of 30 children with BECTS and 20 age-matched healthy peers were enrolled in the study. There were no significant differences between the age and sex of the patients. Statistically significant lower mean values of the amplitude, and duration and density of the spindle activity were observed in patients with BECTS when compared to the controls (P: 0.034, P: 0.016, and 0.020, respectively). Additionally, the risk of epilepsy was found to increase by 1.9 %, by the decrease of the mean amplitude of the spindles by 1 mV when compared to control group. CONCLUSION: The interictal records of stage N2 sleep differed in the patients with BECTS when compared to the controls. Findings related to the stage N2 sleep of the present study may suggest a network problem involving the thalamus and thalamocortical pathways in patients with BECTS.

10.
Nucl Med Commun ; 41(8): 800-809, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32459714

RESUMEN

PURPOSE: We aimed to explore the utility and additional clinical contribution of brain fluorodeoxyglucose (FDG) PET imaging for the assessment of children with possible autoimmune encephalitis in comparison to brain MRI. MATERIALS AND METHODS: We conducted a retrospective analysis of six pediatric patients (all seronegative) between 2014 and 2019 with the initial diagnosis of possible autoimmune encephalitis who had brain FDG PET/CT or PET/MRI and brain MRI during the diagnostic period. Diagnosis of possible autoimmune encephalitis was based on clinical consensus criteria defined by Graus et al. Brain FDG PET images were visually evaluated. Semiquantitative evaluation was also performed by using the statistical parametric mapping (SPM) method. RESULTS: Cerebrospinal fluid pleiocytosis and electroencephalography abnormality were present in all patients. Mean duration between the onset of symptoms and brain FDG PET imaging was 33 ± 16 days (range: 18-62 days). There were a total of eight brain FDG PET scans (six of PET/MRI and two of PET/CT). In two patients, FDG PET imaging was performed at diagnosis and follow-up. Initial FDG PET and SPM analysis findings were abnormal in all patients (100%), with four demonstrating only hypometabolism. Only a hypermetabolic pattern was seen in one patient, and mixed the hypohypermetabolic pattern was seen in one patient. All patients had metabolic abnormalities in temporal lobes. Additionally, visual and semiquantitative FDG PET findings revealed hypometabolism in extratemporal regions. Brain MRI was abnormal in two patients (33.3%) who had also FDG hypermetabolism in mesial temporal lobes. CONCLUSIONS: Our findings support the usage of fluorine-18-FDG PET/computed tomography (CT)/MRI with quantitative analysis early in the diagnostic work-up of possible autoimmune encephalitis, particularly in those with normal or nonspecific MRI findings. However, it remains a purpose of further studies, if and to what extent FDG PET/CT or integrated FDG PET/MRI with quantitative analysis can improve the diagnostic workup of children with possible autoimmune encephalitis.

12.
Childs Nerv Syst ; 36(7): 1425-1433, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31940057

RESUMEN

PURPOSE: Measurement of optic nerve sheath diameter (ONSD) with ocular ultrasonography (USG) is a noninvasive technique that can be readily used to determine clues of increased intracranial pressure. In this study, we aimed to determine the role of optic nerve sheath diameter measurements in the diagnosis and follow-up of pediatric patients with idiopathic intracranial hypertension (IIH). METHODS: Eight patients with a diagnosis of IIH with a median age of 11.7 (range 4.5-17) years were examined prospectively. During follow-up, orbital ultrasonography (USG) was performed immediately prior to lumbar puncture (LP) and at 24 h, at 1 week, and between 1 and 18 months after LP. Cranial MRI examinations and automated visual field assessments were performed at baseline and at 3 months, and both measurements were compared with each other. RESULTS: The mean cerebrospinal fluid opening pressure (37.75 ± 12.64 cm H2O) and the mean ONSD (5.94 ± 0.46 mm) were correlated. The median follow-up was 16 (range, 12-18 months), and ONSD regressed gradually consistent with clinical and radiologic improvement during follow-up. CONCLUSIONS: To the best of our knowledge, this is the first prospective pilot study performed on pediatric patients with IIH using orbital USG for ONSD measurements. Despite the small sample size, the present study indicated that orbital USG may be used as a promising noninvasive tool to diagnose increased intracranial pressure and for monitoring treatment efficacy in this special patient population.

13.
Childs Nerv Syst ; 36(2): 353-361, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31385086

RESUMEN

PURPOSE: The goal of this study was to better understand vanishing white matter (VWM) disease, which is one of the most common hereditary white matter disorders, and its relationship to radiologic features, genetic analyses, and clinical findings. METHODS: We performed a study on 11 patients to describe the clinical and neuroimaging features of VWM. Patients were grouped into "infantile," "early childhood," and "juvenile" based on their onset age. EIF2B1-5 genes encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B) were analyzed in all patients with clinically suspected VWM disease. RESULTS: In brain magnetic resonance imaging (MRI), all patients showed white matter abnormalities with various degrees. The initial clinical presentation in five of patients was ataxia, with severe refractory epilepsy in three patients. In children with infantile-onset VWM, a rapid deterioration of motor function was detected, and the frequency of epilepsy was higher. Two patients showed manifestations of end-stage VWM disease, and one of them had chronic subdural hematoma. One of our patients and his father were diagnosed with Brugada syndrome. Sequencing of the exons and exon-intron boundaries of the EIF2B1-5 genes revealed mutations in the genes EIF2B5 (5 cases), EIF2B3 (3 cases), and EIF2B4 (2 cases). We also found a novel mutation in one patient: c.323_325delGAA in the EIF2B1 gene. CONCLUSIONS: In this study, in addition to classical clinical and radiological findings, we wanted to emphasize that we may be confronted with refractory epilepsy (early infancy), cardiac problems, and intracranial complications that may occur in advanced stages.

14.
Childs Nerv Syst ; 36(7): 1545-1548, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31858216

RESUMEN

BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings. The diagnosis depends on the presentation of increased levels of L-2-hydroxyglutaric acid in the urine, plasma, and cerebrospinal fluids. Patients with L2HGA have an increased risk for the development of cerebral neoplasms which, though rarely, can be the initial presentation of the disease. Moreover, patients with L2HGA have an increased risk for the development of cerebral neoplasms. CASES PRESENTATION: Although psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings are the most common characteristics of the disease, we present two rare cases admitted with tumoral symptoms. CONCLUSION: Patients with L2HGA have an increased risk for the development of cerebral neoplasms.

15.
Clin Nutr ESPEN ; 34: 142, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31677705
16.
Turk J Med Sci ; 49(1): 33-37, 2019 Feb 11.
Artículo en Inglés | MEDLINE | ID: mdl-30761843

RESUMEN

Background/aim: The aim of this study was to evaluate the nutritional status of children with cerebral palsy and determine the particular characteristics of the disorder. Materials and methods: The nutritional status of the children was assessed by the Gomez classification using weight-for-age. The Gross Motor Function Classification System was used to determine the gross and fine motor functions. Results: The study was conducted with 197 children (58.4% males) between the ages of 1 and 18 years old. Asphyxia (44.1%) was the primary etiological factor, and spastic quadriplegia (41.6%) was the most common type of cerebral palsy. Malnutrition was the most frequent comorbidity and the overall malnutrition rate was 76.6%. The most common type of malnutrition was severe malnutrition, which was seen in 70 patients (35.5%). Epilepsy was the second most common comorbidity, seen in 51.7% of the cases. Conclusions: Our results revealed a high rate of malnutrition and epilepsy in children with cerebral palsy. These two more common significant comorbidities that influence the outcomes of children with cerebral palsy should be carefully evaluated and successfully managed. Families of children with cerebral palsy and their physicians should be educated about the nutritional status in these children.


Asunto(s)
Parálisis Cerebral/complicaciones , Parálisis Cerebral/epidemiología , Epilepsia/complicaciones , Epilepsia/epidemiología , Desnutrición/complicaciones , Desnutrición/epidemiología , Adolescente , Peso al Nacer , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estado Nutricional , Estudios Retrospectivos
17.
Seizure ; 65: 89-93, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30641413

RESUMEN

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.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Disulfuros/sangre , Epilepsia/sangre , Epilepsia/tratamiento farmacológico , Homeostasis/efectos de los fármacos , Compuestos de Sulfhidrilo/sangre , Adolescente , Carbamazepina/uso terapéutico , Niño , Preescolar , Disulfuros/metabolismo , Femenino , Humanos , Masculino , Estadísticas no Paramétricas
18.
J Pediatr Neurosci ; 13(2): 276-278, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30090157

RESUMEN

Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation attacks lasting approximately 4-5 min. The physical and neurological examinations were normal. Ammonia level was in the normal range. Citrulline levels increased in both blood and urine. The blood sample was sent to mutation analysis, which showed one novel and one known mutation on ASS1 gene sequencing: a heterozygous novel mutation p.A94V (c.281C>T) and a heterozygous mutation p.W179R (c.535C>T). Urea cycle disorders should be considered in the differential diagnosis of unexplained brief apnea or hypoventilation attacks, even though those symptoms do not lead to hyperammonemia during infancy and childhood as seen in our patient. This is the first case in terms of atypical clinical presentation with a new mutation for CTLN1.

19.
Turk J Med Sci ; 48(4): 786-793, 2018 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-30119154

RESUMEN

Background/aim: We evaluated the utility of electroencephalography (EEG) in children with neurological conditions and compared the results with those of our previous study on excessive uses of pediatric EEG, which was published in 2003. We also evaluated the possibility of subsequent EEGs and satisfactory duration of EEG recordings according to EEG type and admission status. We also evaluated the yield of varying durations of EEG recordings. Materials and methods: All consecutive pediatric EEG records performed at Gazi University EEG laboratory during a 1-year period were retrospectively reviewed. The indications of EEGs, the number of EEGs for each patient, condition and duration of EEG records, and activation techniques were evaluated in terms of detection of abnormalities by EEG. Results: We reviewed a total of 2045 EEGs in children aged 2 months­20 years. Of these, 776 were repeat EEGs (38%) and 485 recordings were ≥30 min (23.7%); 98% of EEG abnormalities appeared in the first 30 min. Overall, 90.5% of EEGs were ordered by a pediatric neurologist. There were similar requests for numbers of EEGs, but the rate of abnormal EEGs (43.6%) was significantly higher when compared to that of our previous study (36.2%). Conclusion: The results of this study show that the utility of EEG becomes more selective and interpretation of pediatric EEG improves depending on the increasing number of pediatric neurologists. A duration of 20­30 min of EEG recording is sufficient, on the condition of inclusion of nREM sleep records.


Asunto(s)
Electroencefalografía/tendencias , Enfermedades del Sistema Nervioso/diagnóstico , Pediatría/tendencias , Adolescente , Niño , Preescolar , Epilepsia/diagnóstico , Femenino , Humanos , Lactante , Masculino , Neurólogos , Pautas de la Práctica en Medicina/tendencias , Estudios Retrospectivos , Convulsiones/diagnóstico , Sueño , Turquia
20.
Eur J Paediatr Neurol ; 22(6): 1139-1149, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30054086

RESUMEN

BACKGROUND: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical and magnetic resonance imaging (MRI) findings of six cases of BTBGD diagnosed with newly identified mutations and genetically confirmed, with very early and different presentations compared to cases in the previous literature. METHODS: Six patients referred from different centers with similar clinical findings were diagnosed with BTBGD with newly identified mutations in the SLC19A3 gene. Two novel mutations in the SLC19A3 gene were identified in two patients at whole exome sequencing analysis. The clinical characteristics, responses to treatment, and electroencephalography (EEG) and MRI findings of these patients were examined. The other four patients presented with similar clinical and cranial MRI findings. These patients were therefore started on high-dose biotin and thiamine therapy, and mutation analysis concerning the SLC19A3 gene was performed. Responses to treatment, clinical courses, EEG findings and follow-up MRI were recorded for all these patients. RESULTS: Age at onset of symptoms ranged from 1 to 3 months. The first symptoms were generally persistent crying and restlessness. Seizures occurred in five of the six patients. Cranial magnetic resonance imaging revealed involvement in the basal ganglia, brain stem, and the parietal and frontal regions in general. The first two patients were siblings, and both exhibited a novel mutation of the SLC19A3 gene. The third and fourth patients were also siblings and also exhibited a similar novel mutation of the SLC19A3 gene. The fifth and sixth patients were not related, and a newly identified mutation was detected in both these subjects. Three novel mutations were thus detected in six patients. CONCLUSION: BTBGD is a progressive disease that can lead to severe disability and death. Early diagnosis of treatable diseases such as BTBGD is important in order to prevent long-term complications and disability.


Asunto(s)
Enfermedades de los Ganglios Basales/diagnóstico por imagen , Enfermedades de los Ganglios Basales/genética , Encéfalo/diagnóstico por imagen , Diagnóstico Precoz , Proteínas de Transporte de Membrana/genética , Adulto , Edad de Inicio , Encéfalo/patología , Análisis Mutacional de ADN , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Mutación , Hermanos , Adulto Joven
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