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1.
Neuropediatrics ; 55(1): 49-56, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38029778

RESUMEN

OBJECTIVE: Attention deficit hyperactivity disorder (ADHD) is a common neuropsychological disorder primarily diagnosed in childhood. Early intervention was found to significantly improve developmental outcomes, implicating on the role of early identification of ADHD markers. In the current study, we explored the developmental history of children referred to neurological assessment to identify early ADHD predictors. METHODS: A total of 92 children and adolescents (41 females) recruited at a pediatric neurology clinic, with suspected ADHD (n = 39) or other neurological difficulties (n = 53) such as headaches, seizures, tic disorders, orthostatic hypotension, postischemic stroke, intermittent pain, and vasovagal syncope. Developmental history information was obtained from caregivers, and evaluation for possible ADHD was performed. Developmental details were compared between children with and without current ADHD diagnosis. RESULTS: Word-finding difficulties (WFDs) in preschool age was reported in 30.4% of the sample. Among children diagnosed with ADHD, 43% had WFDs history, compared with only 5% in children without ADHD. Among children with WFDs history, 93% were later diagnosed with ADHD compared with 42% in children without WFDs history. The relationship between WFDs and ADHD was significant (chi-square test [1, N = 92] = 20.478, p < 0.0001), and a logistic regression model demonstrated that asides from a family history of ADHD, the strongest predictor for ADHD in school age children was a history of WFDs. CONCLUSION: Preliminary evidence supports a predictive link between preschool WFDs and later ADHD diagnosis, highlighting the importance of early WFDs clinical attention.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Accidente Cerebrovascular , Niño , Preescolar , Femenino , Adolescente , Humanos , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico
2.
Am J Med Genet A ; 173(4): 1051-1055, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28328138

RESUMEN

PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals. Here, we report a new family with three siblings affected by sensorineural hearing loss and peripheral neuropathy. Autozygosity mapping followed by exome sequencing identified a previously reported homozygous missense mutation in PTRH2 (c.254A>C; p.(Gln85Pro)). Sanger sequencing confirmed that the variant segregated with the phenotype. In contrast to the previously reported patient, the affected siblings had normal intelligence, milder microcephaly, delayed puberty, myopia, and moderate insensitivity to pain. Our findings expand the clinical phenotype and further demonstrate the clinical heterogeneity related to PTRH2 variants.


Asunto(s)
Hidrolasas de Éster Carboxílico/genética , Pérdida Auditiva Sensorineural/genética , Homocigoto , Proteínas Mitocondriales/genética , Mutación Missense , Enfermedades del Sistema Nervioso Periférico/genética , Adolescente , Secuencia de Bases , Consanguinidad , Progresión de la Enfermedad , Femenino , Expresión Génica , Heterogeneidad Genética , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/fisiopatología , Humanos , Masculino , Miopía/fisiopatología , Insensibilidad Congénita al Dolor/fisiopatología , Linaje , Enfermedades del Sistema Nervioso Periférico/diagnóstico , Enfermedades del Sistema Nervioso Periférico/fisiopatología , Fenotipo , Pubertad Tardía/fisiopatología , Hermanos
3.
Acta Paediatr ; 105(9): 1083-7, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27275771

RESUMEN

AIM: Vagal syncope may not be readily recognised by the caregivers of younger children, often leading to extensive diagnostic evaluation. Our aim was to determine the characteristics of syncope in younger children and to assess whether this age group was more prone to undergoing extensive diagnostic work-ups and receiving wrong aetiological diagnoses. METHODS: We collected clinical data on children up to six years of age, referred to our paediatric neurology clinic between 2007 and 2014 following one or more episodes of sudden loss of consciousness. RESULTS: A family history of syncope was present in 59.5% of the 37 children, and a trigger for syncope was identified in 30 children. Most of the episodes were short, with witnesses reporting an immediate or quick recovery. Most of the children underwent diagnostic procedures, particularly an electroencephalogram, and all the results were normal. Epilepsy did not develop in any of these cases. Syncope recurred in 22 patients during a two-year follow-up. CONCLUSION: Vagal syncope had similar features in toddlers and young children to those seen in adolescents and adults. Its diagnosis should be considered following loss of consciousness due to an identifiable trigger and rapidly regaining consciousness to avoid unnecessary diagnostic procedures and hospitalisation.


Asunto(s)
Síncope Vasovagal/diagnóstico , Niño , Preescolar , Femenino , Humanos , Lactante , Israel/epidemiología , Masculino , Estudios Retrospectivos , Síncope Vasovagal/epidemiología
4.
Isr Med Assoc J ; 17(11): 673-7, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26757562

RESUMEN

BACKGROUND: The long-term significance of apparent life-threatening events (ALTE) has not been thoroughly studied. OBJECTIVES: To evaluate, at age 5 years, the health status of consecutive children diagnosed with ALTE in infancy. METHODS: Based on the diagnostic workup, patients were classified into two groups: a 'broad' evaluation group (at least one test/procedure related to each of the five main causes: infectious, metabolic, cardiopulmonary, gastroenterological, neurological), and a 'narrow' workup group whose evaluation did not cover all five domains. Health status around age 5 was obtained from hospital records, community clinics and parents/caregivers. RESULTS: We identified 132 children with ALTE. Choking (49.2%) was the most common description, followed by apnea (13.6%), suspected seizure (12.9%), cyanosis (12.1%), breath-holding spell (8.3%), and pallor (3.8%). A broad diagnostic workup was performed in 62.1% of the infants, and a narrow workup in 37.9%. At age 5 years, 56.8% of the children were healthy; 27.3% reported chronic conditions unrelated to ALTE. Twenty-one children (15.9%) had unrelated neurodevelopmental conditions, mostly attention deficit disorder. One of the 132 ALTE patients relapsed and was eventually diagnosed with epilepsy. CONCLUSIONS: A single episode of ALTE in infancy was neither predictive of nor associated with chronic systemic or neurological-disease at age 5 years.


Asunto(s)
Obstrucción de las Vías Aéreas/epidemiología , Apnea/epidemiología , Cianosis/epidemiología , Estado de Salud , Preescolar , Urgencias Médicas , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino
5.
Eur J Pediatr ; 173(3): 375-9, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24146164

RESUMEN

UNLABELLED: Consultations by ophthalmologists to rule out papilledema are frequently requested by emergency room (ER) physicians. The clinical setting and optimal timing for examination are not well established, and the impact on patient management is unclear. We evaluated the yield of emergency funduscopic examinations, aiming at establishing the optimal timing and efficacy of the consultation. The medical records of all children aged 0-18 years referred for funduscopic examinations from the ER between June 2010 and May 2011 were reviewed. Of 19,772 ER visits, 1,920 (9.7 %) were seen by an ophthalmologist and 479 (2.4 %) to rule out papilledema. Headache (44.5 %) and head trauma (18.4 %) were the most common indications. Sixty percent of the 479 patients had been symptomatic for <24 h, all having normal eye exams. Only 6/479, with diverse etiologies, depicted papilledema. Among these six children, visual complaints associating with headache were statistically significant to suggest the presence of papilledema (p = 0.014). Seventy-one of the 479 children underwent neuroimaging studies despite normal funduscopic examinations. A single tumor case (medulloblastoma), symptomatic for weeks, had normal funduscopy. CONCLUSION: The vast majority of ER consultations to rule out papilledema show normal findings, particularly among children with signs and symptoms lasting for <24 h. The yield of funduscopy may be higher if visual disturbances are reported. If neuroimaging studies are considered, emergency room ophthalmological consultation is probably not warranted, except for young infants with neurological signs and symptoms in whom retinal hemorrhages suggestive of physical abuse must be ruled out.


Asunto(s)
Papiledema/diagnóstico , Adolescente , Niño , Preescolar , Servicio de Urgencia en Hospital , Femenino , Humanos , Lactante , Masculino , Oftalmoscopios , Papiledema/epidemiología , Derivación y Consulta
6.
Isr Med Assoc J ; 15(11): 673-7, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24511646

RESUMEN

BACKGROUND: The management of intractable epilepsy in children and adults is challenging. For patients who do not respond to anti-epileptic drugs and are not suitable candidates for epilepsy surgery, vagal nerve stimulation (VNS) is a viable alternative for reducing seizure frequency. METHODS: In this retrospective multicenter open-label study we examined the efficacy and tolerability of VNS in patients in five adult and pediatric epilepsy centers in Israel. All patients had drug-resistant epilepsy and after VNS implantation in 2006-2007 were followed for a minimum of 18 months. Patients were divided into two age groups: < 21 and > 21 years old. RESULTS: Fifty-six adults and children had a stimulator implanted in 2006-2007. At 18 months post-VNS implantation, none of the patients was seizure-free, 24.3% reported a reduction in seizures of > or = 75%, 19% reported a 50-75% reduction, and 10.8% a 25-50% reduction. The best response rate occurred in patients with complex partial seizures. Among these patients, 7 reported a > or = 75% reduction, 5 patients a 50-75% reduction, 3 patients a 25-50% reduction, and 8 patients a < 25% reduction. A comparison of the two age groups showed that the older group (< 21 years old) had fewer seizures than the younger group. CONCLUSIONS: VNS is a relatively effective and safe palliative method for treating refractory epilepsy in both adults and children. It is an alternative treatment for patients with drug-resistant epilepsy, even after a relatively long disease duration, who are not candidates for localized epilepsy surgery.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/terapia , Estimulación del Nervio Vago/métodos , Adolescente , Adulto , Factores de Edad , Niño , Resistencia a Medicamentos , Epilepsia/tratamiento farmacológico , Epilepsia/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Israel , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento , Estimulación del Nervio Vago/efectos adversos , Adulto Joven
7.
Curr Treat Options Neurol ; 14(4): 322-31, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22581010

RESUMEN

OPINION STATEMENT: Infantile spasms (IS) represent a major therapeutic challenge, as cessation of spasms and normalization of the electroencephalogram (elimination of hypsarrhythmia) are mandatory to prevent cognitive deterioration in previously healthy infants, or to preserve neurocognitive function among those neurologically affected prior to onset of IS. Traditionally, this epilepsy syndrome has been considered a "catastrophic" epilepsy, not only for its frequent refractoriness, but mostly due to its effect on cognition. Nevertheless, a change of attitude among pediatric epileptologists is probably warranted, as enough evidence and clinical experience demonstrate that early, aggressive therapy, especially with adrenocorticotropic hormone (ACTH), may not only lead to cessation of spasms, but often leads to the cure of infants with idiopathic/cryptogenic IS. Some ACTH protocols such as that prescribed in Israel (tetracosactide ACTH) appear to be highly efficacious in guarantying a good or even excellent prognosis in idiopathic IS. Moreover, oral prednisolone is a promising and much less expensive alternative to IM ACTH. Vigabatrin does have a role as a first-line agent, especially for tuberous sclerosis patients, but evidence supports hormonal therapy as the initial treatment. The role of pyridoxine and the ketogenic diet still needs to be established; given the efficacy of a much shorter tetracosactide ACTH protocol, there may be no need for the long-term diet, despite its efficacy. Finally, a very promising drug has been developed (CP-115) that may altogether replace the current therapeutic regimens in the near future.

8.
Isr Med Assoc J ; 14(9): 547-9, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23101417

RESUMEN

BACKGROUND: Since clinical signs of meningeal irritation in infants may be absent or misleading, the American Academy of Pediatrics in 1996 recommended that a lumbar puncture be performed in young children following a febrile seizure. Recent evidence supports a conservative approach in children who do not look ill at the time of the physician's assessment. Moreover, seizures as the presenting or sole symptom of bacterial meningitis are very rare. OBJECTIVES: To assess physicians' compliance with the Academy's recommendations and to determine the incidence of meningitis among febrile seizure patients, including those who did not undergo the puncture. METHODS: We conducted a retrospective analysis of the number of punctures obtained in febrile seizure patients aged 6-24 months, focusing on the clinician's indications for performing the procedure and on the clinical course of children who did not undergo the puncture. RESULTS: Among 278 patients (84% simple febrile seizure), 52 (18.7%) underwent the procedure. It was performed in 38% of 45 complex febrile seizure cases and in 48% of 91 infants younger than 12 months of age. Aseptic meningitis occurred in two infants, both with post-ictal apathy. Bacterial meningitis was not found and in none of the patients who did not undergo the puncture was meningitis later diagnosed. CONCLUSIONS: Compliance with the Academy's recommendations was low, as emergency room physicians based their decision whether to obtain a lumbar puncture solely on clinical grounds. No case of bacterial meningitis was detected among 278 young children with a febrile seizure, including those who did not undergo the puncture.


Asunto(s)
Meningitis/complicaciones , Meningitis/diagnóstico , Pautas de la Práctica en Medicina/estadística & datos numéricos , Convulsiones Febriles/etiología , Punción Espinal , Diagnóstico Diferencial , Femenino , Humanos , Incidencia , Lactante , Masculino , Meningitis/epidemiología , Estudios Retrospectivos
9.
Epilepsia ; 52(8): 1483-8, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21692792

RESUMEN

PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common epileptic syndrome in childhood. The outcome is usually excellent, but there are some atypical forms of BCECTS with less favorable outcomes. The aim of this study was to delineate the frequency of these atypical features among patients with BCECTS. METHODS: We conducted a retrospective chart study by retrieving the medical records of all consecutive patients with BCECTS who were evaluated in four pediatric neurology outpatient clinics in Israel between the years 1991 and 2008. KEY FINDINGS: A total of 196 patients with BCECTS were identified (78 female and 118 male; mean age at time of diagnosis 7.64 years, range 1.5-14). The mean duration of follow-up was 4.43 years (range 2-11). Nine patients (4.6%) developed electrical status epilepticus in slow waves sleep (ESES) during follow-up, four (2%) had Landau-Kleffner syndrome, three (1.5%) had BCECTS with frequent refractory seizures, two (1%) had BCECTS with falls at presentation, one (0.5%) had a "classic" atypical variant, and one (0.5%) had oromotor dysfunction. None had rolandic status epilepticus. Sixty-one patients (31%) had attention deficit hyperactivity disorder (ADHD), 43 (21.9%) had specific cognitive deficits, and 23 (11.7%) had behavioral abnormalities, including aggressiveness, anxiety disorders, depression, and pervasive developmental disorder (PDD). SIGNIFICANCE: The prevalence of most atypical forms of BCECTS other than ESES is low. There is, however, a high prevalence of ADHD and specific cognitive deficits among patients with BCECTS.


Asunto(s)
Comorbilidad , Epilepsia Rolándica/epidemiología , Adolescente , Niño , Preescolar , Epilepsia Rolándica/fisiopatología , Femenino , Humanos , Lactante , Masculino , Prevalencia , Estudios Retrospectivos
10.
Isr Med Assoc J ; 13(12): 745-7, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22332444

RESUMEN

BACKGROUND: Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3. OBJECTIVES: To describe the clinical, electrophysiologic and pathologic findings in patients with myotonic dystrophy 2. METHODS: We evaluated 10 patients genetically, clinically and electrophysiologically during the years 2007 to 2008. RESULTS: All patients were of Jewish European ancestry. Among affected individuals, eight patients had symptoms of proximal muscle weakness, two had muscle pain, and two exhibited myotonia. On physical examination six patients had severe weakness of hip flexor muscles. Seven individuals underwent cataract surgery, and cardiac involvement was seen in one case. On the initial electromyographic (EMG) examination five patients demonstrated myotonic discharges; repeated studies showed these discharges in nine cases. Six muscle biopsies showed non-specific pathological changes. Seven patients had an affected first-degree relative with either a diagnosed or an undiagnosed muscular disorder consistent with an autosomal dominant trait. CONCLUSIONS: DM2 may often present with proximal muscle weakness without myotonia. EMG may initially fail to show myotonic discharges, but these discharges may eventually show in most cases on repeated EMG. Thus, DM2 may be underdiagnosed and should be included in the differential diagnosis of adult patients of Jewish European ancestry presenting with proximal lower limb weakness.


Asunto(s)
Electromiografía/métodos , Debilidad Muscular/fisiopatología , Dolor Musculoesquelético/fisiopatología , Miotonía/fisiopatología , Trastornos Miotónicos , Proteínas de Unión al ARN/genética , Adulto , Edad de Inicio , Anciano , Biopsia , Europa (Continente)/etnología , Femenino , Humanos , Patrón de Herencia , Israel/epidemiología , Judíos , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Miotonía/patología , Trastornos Miotónicos/diagnóstico , Trastornos Miotónicos/etnología , Trastornos Miotónicos/genética , Trastornos Miotónicos/fisiopatología , Distrofia Miotónica , Linaje
11.
Seizure ; 79: 86-89, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32446208

RESUMEN

PURPOSE: When performed correctly, hyperventilation (HV) for three minutes provokes absence seizures in virtually all children, a finding suggestive of a diagnosis of childhood absence epilepsy (CAE). Interestingly, some children experience absence seizures while performing HV in the office yet do not experience absences during HV on subsequent routine EEG. In most instances, HV during routine EEG is performed in the supine position, while in the office HV is done with the child sitting-up. Therefore, we hypothesized that the position in which HV is performed may influence its yield in provoking absence seizures. METHODS: We conducted a randomized multi-center controlled trial among children (4-10 years old) with suspected CAE. During a routine EEG, children were asked to perform HV twice, in the supine and sitting positions. RESULTS: Twenty children (four males) diagnosed with CAE were included in the analysis. Seventeen of the 20 patients experienced absence seizures while sitting and 13 experienced seizures during supine HV (p = 0.031). All patients that had absence seizures during supine HV also had seizures during sitting HV. Among patients with absences in both positions, seizure duration was significantly shorter during sitting HV (mean 8.69 seconds) than during supine HV (mean 12 seconds) (p = 0.042). An opposite tendency was seen in the younger age group (4-7 years), with shorter seizures in the supine HV group (5.6 seconds supine, 7.57 seconds sitting, p = 0.019). CONCLUSIONS: HV in the sitting position may increase the yield of provoking absence seizures during routine EEGs, thereby improving its sensitivity in the diagnosis of CAE.


Asunto(s)
Electroencefalografía/métodos , Epilepsia Tipo Ausencia/diagnóstico , Hiperventilación , Convulsiones , Sedestación , Posición Supina , Niño , Preescolar , Electroencefalografía/normas , Femenino , Humanos , Hiperventilación/complicaciones , Masculino , Convulsiones/etiología , Sensibilidad y Especificidad , Factores de Tiempo
12.
J Child Neurol ; 23(6): 620-3, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18281623

RESUMEN

Paroxysmal eye movement events are common in children. Many infants and young children are referred for a routine or a video-electroencephalography study. When epileptic, these events form part of a seizure and rarely occur as an isolated ictal event. The yield of the electroencephalogram in determining the nature of isolated paroxysmal eye movement episodes has not been reported. We reviewed our experience with video-electroencephalography studies in patients referred for paroxysmal eye movements. Twenty-one cases were analyzed, of which almost half were cognitively normal. All video-electroencephalography studies captured events that were found to be nonepileptic, including 6 records with interictal epileptiform activity. The semiology of the events differed between cognitively impaired individuals, who had more lateral eye deviation episodes, and normal patients, who showed blinking as a major manifestation. In conclusion, video-electroencephalography studies are probably not indicated in infants and young children with paroxysmal eye movements as their sole complaint.


Asunto(s)
Electroencefalografía , Epilepsia/diagnóstico , Trastornos de la Motilidad Ocular/diagnóstico , Procesamiento de Señales Asistido por Computador , Daño Encefálico Crónico/diagnóstico , Daño Encefálico Crónico/fisiopatología , Corteza Cerebral/fisiopatología , Preescolar , Diagnóstico Diferencial , Esclerosis Cerebral Difusa de Schilder/diagnóstico , Esclerosis Cerebral Difusa de Schilder/fisiopatología , Dominancia Cerebral/fisiología , Epilepsia/fisiopatología , Femenino , Humanos , Lactante , Masculino , Trastornos de la Motilidad Ocular/fisiopatología , Pronóstico , Grabación en Video
13.
Pediatr Emerg Care ; 24(9): 618-20, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18797372

RESUMEN

Massive myoclonic jerks, often presenting in a dramatic fashion during a febrile illness, have rarely been reported and have usually been related to as febrile seizures. Febrile myoclonus is usually a benign phenomenon with no neurological sequelae. However, it may be impressive enough to provoke unnecessary diagnostic workup and treatment in these patients. Thus, its recognition by the emergency room or by the primary care physician is important to provide reassurance to the parents or caregivers and to prevent unwarranted hospitalizations and diagnostic procedures such as lumbar puncture and electroencephalogram. We describe 3 cases of febrile myoclonus and briefly review this subject.


Asunto(s)
Fiebre/complicaciones , Mioclonía/complicaciones , Mioclonía/diagnóstico , Convulsiones Febriles/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Masculino
14.
Pediatr Neurol ; 88: 36-39, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30337131

RESUMEN

BACKGROUND: Benign epilepsy with centrotemporal spikes (BECTs) usually follows a self-limited course, with a single or few seizures. Assessing the likelihood of a second seizure after the first event may help establishing the need for antiepileptic drug therapy at the time of diagnosis. We aimed at identifying clinical and/or electrographic features that could predict the occurrence of a second seizure. METHODS: We reviewed the clinical and electroencephalographic (EEG) data of children diagnosed with BECTs between 2006 and 2012. Demographic, clinical, routine, and sleep-deprived EEG findings were analyzed. FINDINGS: Seventy-three patients were reviewed who had been followed for four to 10 years. Age at first seizure ranged between three and 16 years (median nine years). In 28 children the first seizure occurred after 10 years age. Ten children were aged three to six years. EEG data were available for 64 individuals. No specific clinical features or seizure semiology were predictive of a second seizure. Neither the type nor the location of interictal EEG discharges was indicative of a second seizure. Among children whose EEG records depicted sleep-related enhancement of interictal discharges, 58.8% sustained a second seizure. This finding did not reach statistical significance. Forty children sustained a second seizure, mostly within 12 months in 30 (P < 0.0001). Among these 30 children, the second event occurred after a median period of 156 days, compared with 654 days for cases with a second seizure after 12 months. CONCLUSIONS: Neither clinical features, seizure characteristics, nor routine EEG findings were effective in predicting the likelihood of a second seizure in children with BECTs.


Asunto(s)
Ondas Encefálicas/fisiología , Epilepsia Rolándica/complicaciones , Convulsiones/etiología , Adolescente , Niño , Preescolar , Electroencefalografía , Femenino , Humanos , Estudios Longitudinales , Masculino , Estudios Retrospectivos , Convulsiones/diagnóstico , Estadísticas no Paramétricas , Factores de Tiempo
15.
Epileptic Disord ; 20(5): 440-446, 2018 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-30361185

RESUMEN

Voltage-gated sodium channel alpha subunit 2 (SCN2A) gene mutations are associated with neonatal seizures and a wide range of epilepsy syndromes. Previous reports suggest that traditional sodium channel blockers (SCBs) such as phenytoin, carbamazepine, and lamotrigine have a beneficial effect on SCN2A-related neonatal seizures, as they counteract the gain-of-function effect of mutated Nav1.2 channels. Additionally, SCBs are beneficial against other sodium and potassium channel-related neonatal seizures. There are, however, few reports describing the effect of the new SCB lacosamide against neonatal and infantile epileptic seizures. We report herein two neonates with intractable neonatal seizures with SCN2A pathogenic missense variants. Both infants showed temporary seizure relief following IV administrations of phenytoin, but were resistant to a combination of antiepileptic drugs, while complete seizure control was achieved following lacosamide administration. We suggest that SCBs, e.g. phenytoin, should be introduced early for refractory neonatal seizures of non-lesional and presumably genetic origin. If any beneficial response to a SCB is noted, this should prompt an initiation of additional SCBs. New clinical trials will provide data on the efficacy and safety of the new SCB lacosamide for genetic neonatal seizures and perhaps neonatal seizures in general.


Asunto(s)
Epilepsia/tratamiento farmacológico , Epilepsia/genética , Enfermedades del Recién Nacido/tratamiento farmacológico , Lacosamida/farmacología , Canal de Sodio Activado por Voltaje NAV1.2/genética , Bloqueadores del Canal de Sodio Activado por Voltaje/farmacología , Epilepsia Refractaria/tratamiento farmacológico , Epilepsia Refractaria/genética , Electroencefalografía , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/genética , Lacosamida/administración & dosificación , Masculino , Mutación Missense , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/genética , Bloqueadores del Canal de Sodio Activado por Voltaje/administración & dosificación
16.
J Child Neurol ; 22(3): 255-9, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17621493

RESUMEN

Seizures constitute the most common neurological symptom in the neonatal period. Treatment usually involves the administration of intravenous benzodiazepines followed by either phenobarbital or phenytoin. For nonresponsive cases, continuous intravenous drip of either midazolam or lidocaine has been suggested for seizure control. Some reports suggest that seizures themselves may have a deleterious effect on long-term neurological outcome. Therefore, there is a need to find treatment regimens with better efficacy to provide maximum seizure control. The authors compared the effectiveness of lidocaine and midazolam in the treatment of intractable seizures in newborn infants born at or after 36 weeks of gestation who suffered from hypoxic-ischemic encephalopathy and who had their cerebral activity monitored. Thirty infants were included in the study: 22 received lidocaine, and 8 received midazolam. Seventeen (77%) infants had a good or partial response to lidocaine, and 4 (50%) had a partial response to midazolam. Of 20 infants diagnosed with hypoxic-ischemic encephalopathy grade 2, 18 (90%) responded to second-line treatment (14 [93%] of 15 to lidocaine and 4 [80%] of 5 to midazolam). Among 10 infants with hypoxic-ischemic encephalopathy grade 3, only 3 (30%) responded to second-line treatment (all 3 to lidocaine, none to midazolam). The findings suggest that lidocaine may be more effective than midazolam in reducing or controlling refractory neonatal seizures. The lower response rate to midazolam was more evident in infants with severe hypoxic-ischemic encephalopathy (grade 3).


Asunto(s)
Anestésicos Intravenosos/uso terapéutico , Anestésicos Locales/uso terapéutico , Lidocaína/uso terapéutico , Midazolam/uso terapéutico , Convulsiones/tratamiento farmacológico , Niño , Preescolar , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Electroencefalografía/métodos , Femenino , Humanos , Lactante , Masculino , Resultado del Tratamiento
17.
J Child Neurol ; 22(1): 99-105, 2007 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17608316

RESUMEN

A case of a young woman who suffers from refractory epilepsy in the form of Rasmussen encephalitis and acute intermittent porphyria is presented. The patient developed refractory partial seizures with progressive hemispheric atrophy in the first decade. Both her serum and cerebrospinal fluid contained significantly elevated levels of anti-GluR3B antibodies. Her serum also contained anti-NR2A antibodies (directed against the N-methyl-D-aspartate receptor). Seven years later, acute intermittent porphyria was diagnosed as she developed an acute episode of abdominal pain, dark urine, and hyponatremia. For several years, all attempts to discontinue porphyrinogenic antiepileptic drugs such as phenobarbital and valproate resulted in seizure worsening. During a major acute intermittent porphyria crisis, brain edema and coma developed, allowing the discontinuation of phenobarbital. On recovery, atrophy of the right hemisphere ensued. Several etiologic hypotheses are presented. Double insults, porphyria, and an autoimmune process are suggested for the development of Rasmussen encephalitis in this patient. The authors recommend testing for porphyria in cases of Rasmussen encephalitis and other intractable seizures.


Asunto(s)
Encefalitis/complicaciones , Porfiria Intermitente Aguda/complicaciones , Adolescente , Autoanticuerpos/metabolismo , Citocinas/metabolismo , Encefalitis/inmunología , Encefalitis/metabolismo , Encefalitis/patología , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Porfiria Intermitente Aguda/inmunología , Porfiria Intermitente Aguda/metabolismo , Porfiria Intermitente Aguda/patología , Tomografía Computarizada por Rayos X/métodos
18.
J Child Adolesc Psychopharmacol ; 27(2): 192-195, 2017 03.
Artículo en Inglés | MEDLINE | ID: mdl-27548271

RESUMEN

OBJECTIVES: Alteration in peripheral iron indices has been reported in a number of movement disorders, particularly Parkinson's disease. We hypothesized that iron stores may be diminished in children at an early stage of tic disorder. METHODS: Using data retrieved from electronic medical records, we compared serum ferritin levels, an indicator of body iron store balance, in drug-naive children diagnosed for the first time with tic disorder (study group; N = 47, 32 boys/15 girls, aged 8.66 ± 3.17 years) compared to age- and sex-matched children with headaches (comparison group, n = 100, 62 boys/38 girls, aged 9.51 ± 3.15 years) treated in the same pediatric neurological clinic. RESULTS: Mean serum ferritin levels were significantly lower (-32%, p = 0.01) in the tic disorder group compared to the headache group. No significant differences were detected in circulatory hemoglobin, iron, transferrin, and platelet count between the two groups. CONCLUSION: Our findings suggest that body iron stores may be reduced in children with recent-onset tic disorder.


Asunto(s)
Ferritinas/sangre , Cefalea/sangre , Deficiencias de Hierro , Trastornos de Tic/sangre , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Estudios Retrospectivos , Trastornos de Tic/fisiopatología
19.
Eur J Paediatr Neurol ; 10(4): 182-5, 2006 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-16959509

RESUMEN

We describe a novel form of myopathy in a mother and her two daughters from an inbred Samaritan family. The patients displayed severe neonatal hypotonia, lethargy and dysmorphic features. Motor milestones were delayed; however, the hypotonia and muscle weakness gradually improved during the first 2 years of life and independent walking was achieved by 18 months. The mother at the age of 23 years shows myopathic facies and minimal proximal weakness. Her intelligence is normal. Her muscle biopsy revealed central nuclei and disruption of the intermyofibrillary network with moth eaten and spiral fibers. Mutations in SMN, MTM1 and the myotonic dystrophy genes were excluded. We suggest this is a new benign form of congenital myopathy. Inheritance is probably autosomal recessive.


Asunto(s)
Enfermedades Musculares/genética , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Adulto , Consanguinidad , Electromiografía , Femenino , Humanos , Lactante , Recién Nacido , Israel , Masculino , Fibras Musculares Esqueléticas/patología , Hipotonía Muscular/genética , Hipotonía Muscular/patología , Músculo Esquelético/patología , Enfermedades Musculares/patología , Linaje , Embarazo , Reflejo/fisiología
20.
J Child Neurol ; 21(6): 441-3, 2006 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-16948925

RESUMEN

Intravenous ketamine, often administered concomitantly with midazolam, is one of the most commonly used drugs for procedural sedation in children. Although it is considered safe for use in children, ketamine can increase intracranial pressure. Hence, this study was carried out to determine whether adding ketamine to midazolam prior to performing lumbar puncture would be associated with a higher cerebrospinal fluid opening pressure in children with suspected aseptic meningitis. Thirty-nine children aged 6 months to 14 years were included: 26 in group A (intravenous midazolam plus ketamine) and 13 in group B (intravenous midazolam only). Mean cerebrospinal fluid opening pressure in group A was 24.4 cm H2O (median 23 cm H2O) compared with 20 cm H2O (median 19.8 cm H2O) in group B (P = .011). Intravenous ketamine prior to performing lumbar puncture is associated with a significantly higher lumbar cerebrospinal fluid opening pressure in children with aseptic meningitis. However, no outcome differences have been found between the two groups.


Asunto(s)
Anestésicos Disociativos/administración & dosificación , Presión del Líquido Cefalorraquídeo/efectos de los fármacos , Ketamina/administración & dosificación , Meningitis Aséptica/diagnóstico , Punción Espinal , Adolescente , Niño , Preescolar , Quimioterapia Combinada , Femenino , Humanos , Hipnóticos y Sedantes/administración & dosificación , Lactante , Inyecciones Intravenosas , Masculino , Midazolam/administración & dosificación
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