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1.
Epilepsy Behav ; 112: 107440, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32906015

RESUMO

BACKGROUND: During Ramadan, the ninth month of the lunar Islamic calendar, adult Muslims are obliged to fast, which involves refraining from taking any food, beverages, or oral medications from dawn to sunset. Fasting's effect on seizure control is not fully understood, and a few observational studies have provided inconclusive results. This study aimed to investigate the effect of fasting during Ramadan on seizure control and quality of life in adult patients with epilepsy. METHODS: This was a prospective observational study over a 3-month period (one month before fasting, the fasting month, and one month after fasting). We recruited adult patients with active epilepsy who were able to fast during the month of Ramadan. The primary outcome measures were as follows: 1) seizure control and 2) quality of life score using the Arabic version of the Ferrans and Powers Quality of Life Index (QLI). Changes in anticonvulsant medications were not allowed during the study period. We used a seizure log provided to participants to record the number of seizures during the 3-month period. Quality of life was scored at the end of each month of the study period. RESULTS: Thirty-seven patients were studied (59% males). The mean age was 30 years (range, 14-51 years), and mean age at epilepsy onset was 13 years (range, 0.5-35 years). On average, patients were on three antiepileptic medications at baseline (range: 2-5). A total of 1576 seizures were reported during the 3-month follow-up, where seizures prior to fasting represented 35.5% of all seizures. Multilinear regression analysis revealed a significant decline of seizures by 21% during the fasting month compared with baseline (adjusted coefficient = 0.79, p < 0.01, 95% confidence interval (CI); 0.61-0.98, R2 = 0.81) and by 29% during post fasting compared with baseline (adjusted coefficient = 0.71, p < 0.01, 95% CI; 0.53-0.90, R2 = 0.79). No significant change was found in the QLI scores calculated during the three months of the study period. CONCLUSION: Fasting during Ramadan might have a positive impact on seizure control in patients with epilepsy, which continued during the month following fasting, whereas the quality of life scores were not affected by fasting.


Assuntos
Epilepsia , Qualidade de Vida , Adulto , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Jejum , Feminino , Humanos , Masculino , Convulsões/tratamento farmacológico
2.
Neurosciences (Riyadh) ; 25(4): 276-280, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33130813

RESUMO

OBJECTIVE: To investigate if there is an association between consanguinity and hippocampal sclerosis (HS) in the Saudi population. METHODS: A retrospective case-control study was conducted by assessing the prevalence of consanguinity in patients with pathologically proven HS, who underwent epilepsy surgery at King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia, between January 2004 and December 2015. We reviewed the medical records to extract data, which included; age, gender, duration of epilepsy, history of febrile seizure, family history of epilepsy in a first or second-degree relative, and pathology reports. RESULTS: A total of 120 patients, out of which 40 patients (65% male) having mesial temporal lobe epilepsy due to HS, and 80 controls (56% male) with cryptogenic epilepsy, were identified. Twenty-two patients (53.5%) in the HS group had a history of consanguinity. In the control group, 30 patients (37.5%) had a history of consanguinity. The odds ratio was 2.04 (95% confidence interval = 0.94 - 4.4, p=0.052). A family history of epilepsy was found in 28% of the patients with HS and 32.5% cryptogenic epilepsy. Only 8 patients (19.5%) with HS reported a history of febrile seizure. CONCLUSION: Our retrospective case-control study suggests that consanguinity might increase the likelihood of developing HS.


Assuntos
Encefalopatias/complicações , Consanguinidade , Epilepsia do Lobo Temporal/epidemiologia , Epilepsia do Lobo Temporal/etiologia , Hipocampo/patologia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Arábia Saudita , Esclerose , Adulto Jovem
3.
Genet Med ; 21(3): 736-742, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30237576

RESUMO

PURPOSE: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel autosomal recessive disease genes. Here, we highlight the utility of the autozygome for the high throughput confirmation of previously published tentative links to diseases. METHODS: Autozygome and exome analysis of patients with suspected Mendelian phenotypes. All variants were classified according to the American College of Medical Genetics and Genomics guidelines. RESULTS: We highlight 30 published candidate genes (ACTL6B, ADAM22, AGTPBP1, APC, C12orf4, C3orf17 (NEPRO), CENPF, CNPY3, COL27A1, DMBX1, FUT8, GOLGA2, KIAA0556, LENG8, MCIDAS, MTMR9, MYH11, QRSL1, RUBCN, SLC25A42, SLC9A1, TBXT, TFG, THUMPD1, TRAF3IP2, UFC1, UFM1, WDR81, XRCC2, ZAK) in which we identified homozygous likely deleterious variants in patients with compatible phenotypes. We also identified homozygous likely deleterious variants in 18 published candidate genes (ABCA2, ARL6IP1, ATP8A2, CDK9, CNKSR1, DGAT1, DMXL2, GEMIN4, HCN2, HCRT, MYO9A, PARS2, PLOD3, PREPL, SCLT1, STX3, TXNRD2, WIPI2) although the associated phenotypes are sufficiently different from the original reports that they represent phenotypic expansion or potentially distinct allelic disorders. CONCLUSIONS: Our results should facilitate the timely relabeling of these candidate disease genes in relevant databases to improve the yield of clinical genomic sequencing.


Assuntos
Doença/genética , Genômica/métodos , Análise de Sequência de DNA/métodos , Variação Biológica da População/genética , Criança , Pré-Escolar , Diagnóstico , Técnicas e Procedimentos Diagnósticos , Feminino , Testes Genéticos/normas , Variação Genética , Genótipo , Hereditariedade/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Fenótipo
4.
Neuropediatrics ; 49(1): 72-75, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29179235

RESUMO

Manganese (Mn) is an essential element in trace quantity but large amounts are toxic. A novel hereditary disorder encompassing high blood Mn levels, dystonia, polycythemia, distinctive T1 hyperintense signals in the basal ganglia on magnetic resonance imaging (MRI) brain, and chronic liver disease was recently described. The disorder is caused by mutations in a Mn transporter encoding gene SLC30A10. We are reporting the clinical features of this rare disorder in two Saudi brothers. The older brother presented with progressive gait difficulties, hypotonia, intermittent dystonia, polycythemia, and characteristic T1-hyperintense lesions on MRI brain. SLC30A10 sequencing identified a novel missense mutation. The younger brother was identified in presymptomatic phase on family screening. Chelation therapy with disodium calcium edetate (ethylenediaminetetraacetic acid, EDTA) led to stabilization of gait, reduction in Mn levels, and resolution of polycythemia. We wish to highlight the atypical neurologic presentation, a novel missense mutation, and beneficial effect of EDTA in this rare disease.


Assuntos
Doenças Metabólicas/genética , Mutação/genética , Transportador 8 de Zinco/genética , Encéfalo/diagnóstico por imagem , Criança , Humanos , Imageamento por Ressonância Magnética , Masculino , Manganês , Doenças Metabólicas/diagnóstico por imagem , Irmãos
5.
Hum Genet ; 136(8): 921-939, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28600779

RESUMO

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.


Assuntos
Exoma , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Genoma Humano , Consanguinidade , Feminino , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Masculino , Anotação de Sequência Molecular , Morbidade , Mutação , Fenótipo , Reprodutibilidade dos Testes , Arábia Saudita/epidemiologia , Análise de Sequência de DNA
6.
J Int Med Res ; 50(3): 3000605221081714, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35259998

RESUMO

OBJECTIVE: To review the characteristics and outcomes of pediatric patients on a ketogenic diet (KD), an established treatment option for individuals with intractable epilepsy, in a tertiary epilepsy center. METHODS: This retrospective study included pediatric patients diagnosed with intractable epilepsy who had experienced no benefits from at least two appropriately chosen antiseizure medications. All patients were hospitalized, started a KD without fasting, and were observed for complications and tolerance. The etiology of epilepsy, side effects, and KD efficacy on seizure outcomes were also examined. RESULTS: Of 16 children included in the study, nine (56%) experienced significant seizure improvement, with three becoming seizure-free during the KD. Ten patients were fed orally, and six were fed through gastrostomy feeding tubes. Most were on a 3:1 ratio, and nine reached ketosis within the first three days of KD initiation. Initial recurrent hypoglycemia was documented in four patients, and four experienced vomiting and acidosis. Most families complied with the diet, and all of the children gained weight during the study period. CONCLUSION: Ketogenic diets are an established and effective treatment for childhood epilepsy, with reversible mild adverse effects. A non-fasting KD protocol is a safe and effective option for children with intractable epilepsy.


Assuntos
Dieta Cetogênica , Epilepsia Resistente a Medicamentos , Criança , Dieta Cetogênica/efeitos adversos , Dieta Cetogênica/métodos , Gorduras na Dieta , Jejum , Humanos , Lactente , Estudos Retrospectivos , Arábia Saudita , Resultado do Tratamento
7.
Epilepsy Res ; 183: 106936, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35526330

RESUMO

OBJECTIVE: To describe the clinical features of childhood epilepsy in Qatar. METHODS: A retrospective cross-sectional chart review analysis was conducted at the only tertiary pediatric hospital in Qatar in 1422 patients with epilepsy followed between November 2016 and October 2019. RESULTS: 55% (781) were males and 70% were non-Qatari. Age of epilepsy onset was in the neonatal period in 9% (114/1207 patients). In the non-neonatal cohort, mean age of onset was 4 yrs 9mos ( ± 1.4mos). Focal epilepsy was the predominant epilepsy type in 45% (594/1314 patients) versus generalized epilepsy in 37% and combined focal/generalized epilepsy in 12%. Etiology was unknown in most children (782/1363, 57%) whereas structural and genetic causes represented 23% and 11% of cases respectively. No differences in epilepsy type and etiology were found between different ethnic groups. Children with genetic or structural epilepsies had an earlier epilepsy onset compared to those with unknown etiologies. At the last follow up, only 36% of patients were seizure-free and 12% (170/1422) had a history of status epilepticus. Medically refractory epilepsy was found in 37% (527/1407) of patients, with the most common etiologies being unknown (36%) and structural (37%). Neurodevelopmental co-morbidities were present in most patients (62%), with global developmental delay (47%) and learning/school difficulties (22%) being the most prevalent. 94% of patients with somatic co-morbidities had concomitant neurodevelopmental co-morbidities. Risk factors associated with an increased risk of co-morbidities and intractable epilepsy included early age of epilepsy onset (< 2 years of age); etiology; antenatal risk factors; history of previous central nervous system infection; history of status epilepticus and a family history of consanguinity and epilepsy. SIGNIFICANCE: This large multi-ethnic population-based study confirms that the prevalence, incidence and clinical features of epilepsy in Qatar is in accordance with other epidemiologic studies and highlights risk factors for the development of co-morbidities and medically-intractable epilepsy.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsias Parciais , Epilepsia Generalizada , Epilepsia , Estado Epiléptico , Criança , Pré-Escolar , Estudos Transversais , Epilepsia/epidemiologia , Etnicidade , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos
8.
Pediatr Neurol ; 109: 35-38, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32461031

RESUMO

PURPOSE: Vagus nerve stimulation (VNS) is an effective adjunctive therapy for drug-resistant epilepsy. Nevertheless, information is lacking regarding optimization of stimulation parameters to improve efficacy. Our study examines the safety and efficacy of rapid duty cycle VNS (OFF time ≤1.1 minute keeping duty cycle less than 50%) in pediatric cohort with intractable epilepsy. METHODS: Retrospective chart review of 50 patients (one to 17 years) with drug-resistant epilepsy treated with VNS between 2010 and 2015 at a single pediatric epilepsy center. Safety and tolerability data were aggregated across all patient visits to determine frequency of adverse events between differing duty cycles. We also compared seizure reduction rates for each patient at (1) last regular duty cycle visit, (2) first rapid duty cycle visit, and (3) last recorded rapid duty cycle visit. RESULTS: Rapid duty cycle was well tolerated, with no adverse events reported in 96.6% patient encounters. At the last visit before switching to rapid duty cycle 45.5% patients were showing response to VNS (seizure reduction rates ≥50%). This rate increased to 77.3% after switching to rapid duty cycle and remained at 77.4% at the last rapid duty cycle visit. Fifteen patients (34.1%) became responders to VNS after switching to rapid cycling; another 19 (43.2%) maintained their response with mostly improved seizure reduction rates. In only a few instances, responders became nonresponders after switching to rapid duty cycle. CONCLUSIONS: Rapid duty cycle VNS is probably safe and well tolerated; it may also be more efficacious than regular cycling VNS in some patients. This study highlights the necessity of prospective, long-term, double-blinded studies for understanding the advantages of this VNS modality.


Assuntos
Epilepsia Resistente a Medicamentos/terapia , Avaliação de Resultados em Cuidados de Saúde , Estimulação do Nervo Vago , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Tempo , Estimulação do Nervo Vago/efeitos adversos , Estimulação do Nervo Vago/métodos
9.
J Child Neurol ; 23(3): 325-30, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18184936

RESUMO

Cerebral venous thrombosis has multiple etiologies and a wide variety of clinical manifestations. This article reports on a young girl who developed cerebral venous thrombosis after intravenous anti-D immune globulin therapy for immune thrombocytopenic purpura. In this case, venous infarction was manifested by an unusual pattern of restricted diffusion limited to the corpus callosum. The cause of cerebral venous thrombosis in this patient may be related to both immune thrombocytopenia and immunoglobulin therapy.


Assuntos
Infarto Encefálico/etiologia , Corpo Caloso/patologia , Trombose Intracraniana/etiologia , Púrpura Trombocitopênica Idiopática/complicações , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Imunoglobulina rho(D)/efeitos adversos , Doença Aguda , Infarto Encefálico/diagnóstico por imagem , Criança , Corpo Caloso/irrigação sanguínea , Corpo Caloso/diagnóstico por imagem , Feminino , Humanos , Trombose Intracraniana/diagnóstico por imagem , Flebografia , Púrpura Trombocitopênica Idiopática/imunologia , Imunoglobulina rho(D)/uso terapêutico
10.
Clin Neurol Neurosurg ; 171: 95-99, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29890460

RESUMO

OBJECTIVE: Electroencephalography (EEG) in the intensive care unit (ICU) is often done to detect non-convulsive seizures (NCS). The outcome of ICU patients with NCS strongly depends on the underlying etiology. The implication of NCS and other EEG findings on clinical outcome independent from their etiology is not well understood and our aim to investigate it. PATIENTS AND METHODS: We retrospectively identified all adult patients in the ICU who underwent EEG monitoring between January 2008 and December 2011. The main goals were to define the rate of NCS or non-convulsive status epilepticus (NCSE) occurrence in our center among patients who underwent EEG monitoring and to examine if NCS/NCSE are associated with poor outcome [defined as death or dependence] with and without adjustment for underlying etiology. The rate of poor outcome among different EEG categories were also investigated. RESULTS: During the study period, 177 patients underwent EEG monitoring in our ICU. The overall outcome was poor in 62.7% of those undergoing EEG. The rate of occurrence of NCS/NCSE was 8.5% and was associated with poor outcome in 86.7% with an odds ratio (OR) of 5.1 (95% confidence interval [CI] 1.09-23.8). This association was maintained after adjusting for underlying etiologies with OR 5.6 (95% CI 1.05-29.6). The rate of poor outcome was high in the presence of periodic discharges and sharp and slow waves of 75% and 61.5%, respectively. CONCLUSIONS: Our cohort of ICU patients undergoing EEGs had a poor outcome. Those who developed NCS/NCSE experienced an even worse outcome regardless of the underlying etiology.


Assuntos
Cuidados Críticos , Eletroencefalografia , Convulsões/diagnóstico , Estado Epiléptico/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Eletroencefalografia/métodos , Feminino , Humanos , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica/métodos , Estudos Retrospectivos , Arábia Saudita , Convulsões/fisiopatologia , Adulto Jovem
11.
Epilepsy Res Treat ; 2016: 5873208, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27752367

RESUMO

Background. Approximately, one-third of patients with epilepsy are refractory to pharmacological treatment which mandates extensive medical care and imposes significant economic burden on patients and their societies. This study intends to assess the impact of the treatment with ketogenic diet (KD) on reducing seizure-related emergency room visits and hospitalizations in children with refractory epilepsy. Methods. This is a retrospective review of children treated with the KD in one tertiary center. We compared a 12 months' period prior to KD with 12 months after the diet was started in regard to the number of emergency department (ED) visits, hospitalizations, and hospital days as well as their associated charges. Results. 37 patients (57% males) were included. Their ages at time of KD initiation were (4.0 ± 2.78) years. Twelve months after the KD initiation, the total number of ED visits was reduced by 36% with a significant decrease of associated charges (p = 0.038). The number of hospital admissions was reduced by 40% and the number of hospital days was reduced by 39%. The cumulative charges showed net cost savings after 9 months when compared to the prediet baseline. Conclusion. In children with refractory epilepsy, treatment with the ketogenic diet reduces the number of ED visits and hospitalizations and their corresponding costs.

12.
Ann Saudi Med ; 35(1): 41-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26142937

RESUMO

BACKGROUND: Vagus nerve stimulation (VNS) has been approved for the treatment of refractory partial epilepsy in adults and children over 12 years of age. Later on, its application expanded to include younger children and other types of epilepsy. We report our experience with this treatment modality for refractory epilepsy in Saudi Arabia. DESIGN AND SETTINGS: Open-label, uncontrolled, retrospective study of patients with refractory epilepsy, who were treated with VNS in a tertiary care hospital from January 2010 to June 2013. PATIENTS AND METHODS: Collected data included 26 patients' demographics, epilepsy characteristics, seizure frequency, and treatment history. Patients with a follow-up duration of minimum 12 months were included in the analysis. The examined outcome measures were seizure reduction rates, antiepileptic drugs (AEDs) burden, and impact on patients' quality of life (QOL). RESULTS: Onset of seizures was from birth to 30 years. Patients' ages at VNS implantation ranged from 4 to 38 years (18.9 [8.7] years). Epilepsy was classified as focal in 8 patients (30%), multifocal in 9 patients (35%), and generalized in 9 patients (35%). The average number of AEDs failed before VNS was 4.2 (1.4). Greater than 50% seizure reduction was achieved in 50% of patients at 3 months, 67% at 6 months, 73% at 12 months, and 78% at 24 months. There was no significant reduction in AEDs burden during the same period. Subjective QOL improvement was reported by 72% of patients at 3 months, 83% at 6 months, 78% at 12 months, and 73% at 24 months after VNS. Minor adverse effects were reported in 27% of patients. One patient had the device replaced due to malfunction. CONCLUSION: The experience with VNS in a single center in Saudi Arabia confirms that it is a safe and effective adjunctive therapy for refractory epilepsy in adult and pediatric patients.


Assuntos
Epilepsia Resistente a Medicamentos/terapia , Estimulação do Nervo Vago , Adolescente , Adulto , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/psicologia , Feminino , Humanos , Masculino , Qualidade de Vida , Estudos Retrospectivos , Arábia Saudita , Resultado do Tratamento , Adulto Jovem
13.
Eur J Paediatr Neurol ; 19(5): 603-6, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26004995

RESUMO

BACKGROUND: Cerebellar swelling with obstructive hydrocephalus is a rare but life threatening condition, associated with different etiologies, familial hemophagocytic lymphohistiocytosis (HLH) being rarely one of them. PATIENT: 2-year-7-month old boy presented with irritability, cerebellar dysfunction, and somnolence. Brain MRI showed marked diffuse cerebellar swelling and obstructive hydrocephalus with mild tonsillar herniation. Laboratory testing revealed pancytopenia, elevated liver enzymes, elevated ferritin and triglycerides levels and decreased fibrinogen. The diagnosis of familial HLH was confirmed by the presence of homozygous missense mutation of Syntaxin 11 gene. The child was treated with HLH-2004 protocol of chemotherapy followed by allogenic stem cell transplantation. His neurological condition improved significantly after treating the underlying disease. CONCLUSION: Cerebellar swelling is a rare manifestation of familial HLH. High degree of clinical suspicion may allow a timely diagnosis and appropriate therapy.


Assuntos
Edema Encefálico/etiologia , Cerebelo/patologia , Linfo-Histiocitose Hemofagocítica/complicações , Pré-Escolar , Humanos , Hidrocefalia/etiologia , Linfo-Histiocitose Hemofagocítica/diagnóstico , Imageamento por Ressonância Magnética , Masculino
14.
Pediatr Neurol ; 50(3): 224-7, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24433856

RESUMO

OBJECTIVE: To determine the efficacy of the ketogenic diet in controlling epileptic spasms after failing traditional antiepileptic medication therapy. METHODS: This is a prospective, case-based study of all infants with epileptic spasms who were referred for treatment with the ketogenic diet at our hospital between 2009 and 2012. All subjects continued to have epileptic spasms with evidence of hypsarrhythmia or severe epileptic encephalopathy on electroencephalography despite appropriate medication treatments. The diet efficacy was assessed through clinic visits, phone communications, and electroencephalography. Quality of life improvement was charted based on the caregiver's perspective. RESULTS: Twenty infants (15 males) were included in the study. The mean age at seizure onset was 4.5 months. Age at ketogenic diet initiation was 0.3 to 2.9 years (mean 1.20, standard deviation 0.78). Fifteen patients had epileptic spasms of unknown etiology; three had perinatal hypoxic ischemic encephalopathy, one had lissencephaly, and one had STXBP1 mutation. Fifteen infants failed to respond to adrenocorticotropin hormone and/or vigabatrin before going on the ketogenic diet. Three months after starting the diet, >50% seizure reduction was achieved in 70% of patients (95% CI 48-86). These results were maintained at 6- and 12-month intervals. All eight of the patients followed for 24 months had >50% seizure reduction (95% CI 63-100). At least 90% seizure reduction was reported in 20% of patients at 3 months (95% CI 7-42), 22% (95% CI 8-46) at 6 months, and 35% (95% CI 17-59) at 12 months. The majority of patients (63%) achieved improvement of their spasms within 1 month after starting the diet. Sixty percent of patients had electroencephalographic improvement. All caregivers reported improvement of the quality of life at the 3-month visit (95% confidence interval 81-100). This ratio was 94% at 6 months (95% CI 72-99) and 82% at 12 months (95% CI 58-95). CONCLUSION: The ketogenic diet is a safe and potentially effective method of treatment for patients with epileptic spasms, especially those who do not respond to customary medication therapies.


Assuntos
Dieta Cetogênica , Convulsões/dietoterapia , Espasmos Infantis/dietoterapia , Anticonvulsivantes/uso terapêutico , Encéfalo/fisiopatologia , Estudos de Casos e Controles , Pré-Escolar , Dieta Cetogênica/efeitos adversos , Eletroencefalografia , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Qualidade de Vida , Convulsões/tratamento farmacológico , Convulsões/fisiopatologia , Espasmos Infantis/tratamento farmacológico , Espasmos Infantis/fisiopatologia , Fatores de Tempo , Resultado do Tratamento
15.
Pediatr Neurol ; 51(3): 439-40, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25160551

RESUMO

INTRODUCTION: The ketogenic diet is a treatment modality used for patients with refractory epilepsy. Development of cholelithiasis while on the ketogenic diet is a potential side effect that has been described in the literature. There however have not been any reports on the outcomes of continuing the diet after cholecystectomy. PATIENT: We present a 5-year-old boy with history of pharmacologically intractable epilepsy that was well controlled on the ketogenic diet. He underwent laparoscopic cholecystectomy for the development of symptomatic cholelithiasis 12 months after the initiation of ketogenic diet for seizure control. RESULTS: Patient tolerated the surgery well and was able to continue the ketogenic diet postoperatively. DISCUSSION: There have been no reports describing the continuation of ketogenic diet after cholecystectomy. This child demonstrates the safety of the procedure and the ability to continue the ketogenic diet without further biliary or surgical complications.


Assuntos
Colecistectomia Laparoscópica , Colelitíase/dietoterapia , Colelitíase/cirurgia , Dieta Cetogênica , Pré-Escolar , Colelitíase/fisiopatologia , Humanos , Masculino , Período Pós-Operatório , Convulsões/dietoterapia , Convulsões/fisiopatologia
16.
Ann Clin Transl Neurol ; 1(2): 115-23, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25356390

RESUMO

OBJECTIVE: To study the safety of antiepileptic drug (AED) withdrawal after temporal lobe epilepsy (TLE) surgery. METHODS: We reviewed patients who underwent TLE surgery from 1995 to 2011, collecting data on doses, dates of AED initiation, reduction, and discontinuation. Predictors of seizure outcome were defined using Cox-proportional hazard modeling and adjusted for, while comparing longitudinal seizure-freedom in patients for whom AEDs were unchanged after resection as opposed to reduced or stopped. RESULTS: A total of 609 patients (86% adults) were analyzed. Follow-up ranged from 0.5 to 16.7 years. Most (64%) had hippocampal sclerosis. Overall, 229 patients had remained on their same baseline AEDs, while 380 patients stopped (127 cases) or reduced (253 cases) their AEDs. Mean timing of the earliest AED change was shorter in patients with recurrent seizures (1.04 years) compared to those seizure-free at last follow-up (1.44 years; P-value 0.03). Whether AEDs were withdrawn 12 or 24 months after surgery, there was a 10-25% higher risk of breakthrough seizures within the subsequent 2 years. However, 70% of patients with seizure recurrence after AED discontinuation reachieved remission, as opposed to 50% of those whose seizures recurred while reducing AEDs (P = 0.0001). Long-term remission rates were similar in both AED discontinuation and "unchanged" groups (82% remission for AEDs withdrawn after 1 year and 90% for AEDs withdrawn after 2 years), while only 65% of patients whose recurrences started during AED reduction achieved a 2-year remission by last follow-up. INTERPRETATION: AED withdrawal increases the short-term risk of breakthrough seizures after TLE surgery, and may alter the long-term disease course in some patients.

17.
Epilepsy Res Treat ; 2013: 983049, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23691295

RESUMO

Children with epileptic encephalopathy often have global impairment of brain function and frequent intractable seizures, which contribute further to their developmental disability. Many of these children have identifiable brain lesion on neurological imaging. In such cases, epilepsy surgery may be considered as a treatment option despite the lack of localized epileptic pattern on electroencephalogram (EEG). In this paper, we summarize the clinical features of epileptic encephalopathy syndromes and review the reported literature on the surgical approach to some of these disorders.

18.
J Child Neurol ; 25(10): 1182-7, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20724750

RESUMO

We studied the frequency and consequences of incidental neuroimaging findings in 400 otherwise healthy, nonacute pediatric headache patients through a retrospective, cross-sectional analysis. We excluded patients with currently recommended clinical criteria to consider diagnostic neuroimaging. We categorized neuroimaging results as normal, remarkable without clinical action, remarkable with clinical follow-up action, and abnormal. One hundred eighty-five of 400 patients (46%) had neuroimaging. Of these, 78.4% of neuroimaging studies were normal, and none was considered abnormal. Also, 21.5% had remarkable findings in the neuroradiology report. The frequency and types of all incidental findings were generally comparable to previous studies. One third of these patients received further consultation or neuroimaging because of incidental findings. In the evaluation of nonacute pediatric headache, overuse of neuroimaging leads to frequent discovery of incidental findings and increased testing. Individualized health care calls for physician-consumer discussions about current indications for neuroimaging, the general frequency of incidental findings, and potential difficulties in their interpretation.


Assuntos
Transtornos da Cefaleia/epidemiologia , Achados Incidentais , Malformações do Sistema Nervoso/epidemiologia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Comorbidade , Estudos Transversais , Feminino , Transtornos da Cefaleia/diagnóstico por imagem , Transtornos da Cefaleia/patologia , Humanos , Masculino , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/patologia , Radiografia , Estudos Retrospectivos
19.
Pediatrics ; 122(5): e1001-5, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18838461

RESUMO

OBJECTIVES: The objective of this study was to determine trends in diagnostic neuroimaging-use rates in nonacute pediatric headache before and after publication of clinical practice guidelines. METHODS: Retrospective, cross-sectional analysis was conducted of neuroimaging rates for 725 children and adolescents who were aged 3 to 18 years with nonacute headache and normal neurologic examination and were evaluated in a single pediatric neurology clinic during study years 1992, 1996, 2000, and 2004. Following recommendations of current practice parameters, patients with conditions that justify consideration for neuroimaging (eg, progressive headache, abnormal neurologic examination) were excluded from this analysis. We recorded the origin of any neuroimaging request at the time of the clinic visit and any abnormal neuroimaging findings that led to major clinical consequences. RESULTS: Overall, the mean rate of neuroimaging for patients with nonacute headache was 45%. Use rates remained steady during the 13-year study period (range: 41%-47%). The majority of neuroimaging studies were ordered originally by primary care providers. The proportion of neuroimaging studies that were ordered by primary care providers increased significantly from 1992 to 2004. CONCLUSIONS: In the evaluation of patients who had nonacute pediatric headache and were referred to a child neurology clinic, neuroimaging-use rates remained stable during the past decade. An increasing proportion of neuroimaging studies are ordered by primary care providers. The influence of evidence-based medicine on medical decision-making may be partly responsible for curbing increases in neuroimaging overuse. The perceived value of neuroimaging by physicians and consumers deserves ongoing study.


Assuntos
Cefaleia/diagnóstico , Imageamento por Ressonância Magnética/estatística & dados numéricos , Tomografia Computadorizada por Raios X/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Padrões de Prática Médica/estatística & dados numéricos , Estudos Retrospectivos
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