RESUMEN
Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). However, we identified a 7 Mb interval containing a susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C-->T, p.Thr585Met) in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de novo in two families and independently in several other families. Two other patients with familial ANE had different RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in RANBP2 are susceptibility alleles for familial and recurrent cases of ANE.
Asunto(s)
Predisposición Genética a la Enfermedad , Leucoencefalitis Hemorrágica Aguda/genética , Chaperonas Moleculares/genética , Proteínas de Complejo Poro Nuclear/genética , Exones , Humanos , Gripe Humana/complicaciones , Leucoencefalitis Hemorrágica Aguda/etiología , Mutación Missense , Mycoplasma pneumoniae , Infecciones por Paramyxoviridae/complicaciones , Linaje , Neumonía por Mycoplasma/complicaciones , RecurrenciaRESUMEN
BACKGROUND: In the present study we investigated the levels of proapoptotic caspase-9 and antiapoptotic Bcl-2 proteins in the sera of children and adolescents with idiopathic epilepsy and tried to relate the findings to the patients' clinical parameters. METHODS: This retrospective study consisted of 118 children and adolescents with idiopathic epilepsy, categorized according to type and number of seizures, duration of the disease and the control of seizures and 30 age- and sex-matched controls. The relapse of seizures was taken into consideration. RESULTS: Mean serum level between Bcl-2 and caspase-9 was significantly higher only in Bcl-2 patients, compared to controls (P≤0.0001) and (P=0.987) respectively. Significant difference in Bcl-2 level was found among the different types of focal seizures. Caspase-9 level was statistically different in patients with two or more seizures per month compared to those with one seizure per month (P=0.048). No correlation was found between Bcl-2 and caspase-9 levels and age, gender, seizure frequency, total number of seizures and the duration of epilepsy. No significant difference was found in patients with and without drug treatment. CONCLUSIONS: Bcl-2 displays an association with apoptosis and highlights the potential of being a surrogate biomarker for active seizures and epilepsy. There is a significant difference in Bcl-2 serum level among the different types of focal seizures. Proapoptotic caspase-9 cannot act as a marker of active seizures and epilepsy. Caspase-9 serum level is increased acutely in controlled cases after a single relapse.
Asunto(s)
Caspasa 9/sangre , Epilepsia , Proteínas Proto-Oncogénicas c-bcl-2/sangre , Convulsiones , Adolescente , Niño , Epilepsia/sangre , Epilepsia/tratamiento farmacológico , Humanos , Estudios Retrospectivos , Convulsiones/sangreRESUMEN
A 13-year-old Greek girl with pyruvate kinase deficiency and moya moya angiographic pattern is reported. She also had raised serum lipoprotein (a) concentration and was homozygous for the C677T mutation of the methylenetetrahydrofolate reductase gene. She presented with neonatal onset of anemia, hemolytic and aplastic crises, especially during infections, stroke, and also progressive motor and mental deterioration. A digital cranial angiography at 13 years revealed the typical angiographic findings of moya moya angiopathy. This is likely the first patient with pyruvate kinase deficiency and moya moya syndrome and also the combination of elevated serum lipoprotein (a) concentration and the C677T mutation of the methylenetetrahydrofolate reductase gene to be reported. In patients with pyruvate kinase deficiency and moya moya syndrome, a search for raised serum lipoprotein (a) concentrations and the C677T mutation of the methylenetetrahydrofolate reductase gene should be considered.
Asunto(s)
Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Enfermedad de Moyamoya/enzimología , Enfermedad de Moyamoya/etiología , Mutación , Piruvato Quinasa/deficiencia , Adolescente , Angiografía Cerebral/métodos , Femenino , Humanos , Lipoproteínas/sangre , Imagen por Resonancia Magnética/métodos , Enfermedad de Moyamoya/genética , Enfermedad de Moyamoya/patologíaRESUMEN
PURPOSE: The aim of this study was to investigate by a prospective, self-controlled method, whether treatment with carbamazepine (CBZ) and sodium valproate (VPA) monotherapy may alter serum lipoprotein (a) [Lp(a)] concentrations in epileptic children. METHODS: Serum Lp(a) concentrations have been determined in 18 epileptic children before and at 6, 12 and 24 months of treatment with CBZ monotherapy and in 30 epileptic children before and at 6, 12 and 24 months of treatment with VPA monotherapy. Serum total cholesterol, triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, apolipoproteins A-I and B concentrations and serum concentrations of biochemical markers of liver and renal function were also measured in the study participants. RESULTS: Serum Lp(a) concentrations were significantly increased at 6, 12 and 24 months of CBZ and VPA monotherapy. There were no significant correlations between serum Lp(a) and serum lipids, lipoproteins, apolipoproteins, concentrations of biochemical markers of liver and renal function or antiepileptic-drugs concentrations. CONCLUSIONS: Children who receive CBZ or VPA monotherapy may have significant and persistent increase in serum lipoprotein (a) concentrations, occuring early in the course of therapy. It may be useful to measure serum Lp(a) concentrations routinely in epileptic children taking these antiepileptic drugs, especially in those that are already at higher atherosclerotic risk.
Asunto(s)
Anticonvulsivantes/efectos adversos , Carbamazepina/efectos adversos , Epilepsia/tratamiento farmacológico , Lipoproteína(a)/sangre , Ácido Valproico/efectos adversos , Adolescente , Anticonvulsivantes/uso terapéutico , Carbamazepina/uso terapéutico , Niño , Preescolar , Epilepsia/sangre , Femenino , Humanos , Lípidos/sangre , Masculino , Estudios Prospectivos , Factores de Tiempo , Ácido Valproico/uso terapéuticoRESUMEN
Acute necrotizing encephalopathy of childhood is a novel type of parainfectious encephalopathy with a racial and geographic predilection, rarely reported from other than East Asian areas. The objective was to describe the clinical, imaging, and other laboratory findings of non-Asian patients with acute necrotizing encephalopathy. Data were collected from three patients diagnosed in Athens over a 4-year period plus 16 cases reported from other European and North American countries. One of the Greek children died, and the other two had a normal outcome. A neuropathologic examination in the fatal case showed edematous necrosis without inflammatory, reactive, or proliferative changes. Data from Greek and other non-Asian patients support the homogeneity of the disease worldwide.
Asunto(s)
Leucoencefalitis Hemorrágica Aguda/patología , Neocórtex/patología , Niño , Femenino , Humanos , Leucoencefalitis Hemorrágica Aguda/etnología , Imagen por Resonancia Magnética/métodos , Masculino , Literatura de Revisión como Asunto , Tomografía Computarizada por Rayos X/métodos , Población BlancaRESUMEN
Several cases with cerebral infarctions associated with the factor V Leiden mutation have been reported. However, bearing in mind the large number of asymptomatic individuals with the factor V Leiden mutation, additional risk factors for cerebral infarctions should be considered. In this report, two siblings with cerebral infarctions associated with a combination of heterozygous factor V Leiden mutation and different additional exogenous and endogenous thrombogenic risk factors are described. Respiratory problems in the perinatal period and increased lipoprotein (a) concentrations in the first patient and an episode of gastroenteritis from Shigella infection and persistent high titers of serum anticardiolipin and beta(2)-glycoprotein I antibodies in the second patient were recorded as additional thrombogenic risk factors. Furthermore, both patients were found to be heterozygous for the methylenetetrahydrofolate reductase gene C677T mutation. These findings suggest that even in the same family, different additional thrombogenic risk factors can be present in infants with cerebral infarctions associated with the factor V Leiden mutation. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of these infants with cerebral infarctions associated with the factor V Leiden mutation and of their related family members. To our knowledge, the second patient in this study is the first patient reported to have cerebral infarctions associated with the combination of the factor V Leiden mutation and persistent high titers of serum beta(2)-glycoprotein I antibodies.
Asunto(s)
Infarto Cerebral/genética , Factor V/genética , Salud de la Familia , Mutación , Factores de Riesgo , Adulto , Anticuerpos/sangre , Cardiolipinas/inmunología , Infarto Cerebral/complicaciones , Infarto Cerebral/patología , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética/métodos , Masculino , Metilenotetrahidrofolato Deshidrogenasa (NADP)/genética , Trastornos Respiratorios/etiología , beta 2 Glicoproteína I/inmunologíaRESUMEN
To investigate by a prospective, self-controlled method, whether early treatment with sodium valproate (VPA) monotherapy has some effect on serum total amylase and particularly on its pancreatic isoenzyme and lipase activities in epileptic children. Serum total amylase, pancreatic amylase and lipase activities have been evaluated in 23 epileptic children, before and at 6 and 12 months of VPA monotherapy. All children remained without clinical symptoms of pancreatitis during the period of study. Serum pancreatic amylase activities were significantly decreased at 6 and 12 months of treatment with VPA, whereas serum total amylase and lipase activities did not show any significant changes at 6 or 12 months of treatment. Non-pancreatic isoenzyme activities of amylase were significantly higher at 6 and 12 months of treatment. Three patients (13%) had slightly elevated serum total amylase levels at 6 and 12 months of treatment. There was no significant correlation of serum pancreatic amylase levels or non-pancreatic isoenzyme levels of amylase with serum VPA levels at 6 and 12 months of treatment. Non-pancreatic amylase activities, probably derived from salivary glands, may be increased in children treated with VPA monotherapy. Measurement of serum pancreatic amylase and/or serum lipase activities is indicated in patients with increased serum total amylase levels but without clinical symptoms of pancreatitis and, furthermore, in patients with symptoms suggesting dysfunction of pancreas, in order to avoid unnecessary discontinuing of VPA.
Asunto(s)
Amilasas/sangre , Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Isoamilasa/sangre , Lipasa/sangre , Ácido Valproico/uso terapéutico , Adolescente , Niño , Preescolar , Pruebas Enzimáticas Clínicas , Epilepsia/enzimología , Femenino , Humanos , Masculino , Estudios Prospectivos , Estadísticas no Paramétricas , Factores de TiempoRESUMEN
The purpose of this study was to investigate, by a prospective, self-controlled method, whether early treatment with carbamazepine monotherapy can alter bone metabolism in ambulatory epileptic children with adequate sun exposure, based on the determination of total serum alkaline phosphatase and its bone isoenzyme activities. Serum total alkaline phosphatase and its bone, liver, and intestinal isoenzyme activities were evaluated in 22 epileptic ambulatory children (13 males and 9 females, aged from 5 to 12 years) before and at 3, 6, and 12 months of carbamazepine monotherapy. Serum concentrations of other biochemical markers of bone and liver metabolism, such as calcium, phosphorus, magnesium, gamma-glutamyltransferase, alanine aminotransferase, aspartate aminotransferase, and lactate dehydrogenase, were also measured in the study participants before and at 6 and 12 months of treatment. Carbamazepine was prescribed at normal dosages (16.4-20 mg/kg/day). Serum total alkaline phosphatase activities were significantly increased at 3 (P = .000), 6 (P = .024), and 12 (P = .037) months of treatment; serum bone alkaline phosphatase activities at 3 (P = .000), 6 (P = .008), and 12 (P = .017) months of treatment; and serum liver alkaline phosphatase activities at 3 (P = .000), 6 (P = .049), and 12 (P = .008) months of treatment, whereas serum intestinal alkaline phosphatase isoenzyme activity was significantly increased only at 3 months of treatment (P = .035). Serum gamma-glutamyltransferase activities were also significantly increased at 6 (P = .000) and 12 (P = .000) months of treatment. No significant changes in the concentrations of serum calcium, phosphorus, magnesium, alanine aminotransferase, aspartate aminotransferase, and lactate dehydrogenase were noted at 6 and 12 months of treatment. There was a significant correlation between serum gamma-glutamyltransferase activities and serum total alkaline phosphatase activities (r = .689, P = .000 at 6 months; r = .493, P = .020 at 12 months), bone alkaline phosphatase activities (r = .700, P = .000 at 6 months; r = .466, P = .029 at 12 months), and liver alkaline phosphatase activities (r = .427, P = .047 at 6 months; r = .425, P = .048 at 12 months). These findings indicate that ambulatory children who receive carbamazepine monotherapy, even when residing in a country with adequate sunlight, can have their bone metabolism altered early in the course of treatment, as indicated by the elevated activities of serum bone alkaline phosphatase isoenzyme. This early alteration in bone metabolism is probably due to the hepatic enzyme-inducing character of carbamazepine.
Asunto(s)
Fosfatasa Alcalina/sangre , Fosfatasa Alcalina/metabolismo , Anticonvulsivantes/efectos adversos , Anticonvulsivantes/uso terapéutico , Resorción Ósea/inducido químicamente , Carbamazepina/efectos adversos , Carbamazepina/uso terapéutico , Epilepsia/tratamiento farmacológico , Resorción Ósea/enzimología , Niño , Preescolar , Femenino , Humanos , Isoenzimas , Masculino , Estudios Prospectivos , Luz SolarRESUMEN
BACKGROUND: Serum total amylase and lipase activities have been determined in epileptic patients treated with polytherapy using enzyme-inducing anticonvulsant drugs; however, to our knowledge, serum total amylase, pancreatic amylase and lipase activities have not previously been determined in patients receiving carbamazepine monotherapy. The purpose of this study was to investigate by a prospective, self-controlled method, whether early treatment with carbamazepine monotherapy may alter serum total amylase, pancreatic amylase and lipase concentrations of epileptic children. METHODS: Serum total amylase, pancreatic amylase and lipase activities have been determined in 18 epileptic children before and at 6 and 12 months of treatment with carbamazepine monotherapy. Serum gamma-glutamyltransferase activities were also determined. RESULTS: Serum total amylase concentrations were significantly increased at 6 months of treatment (p=0.034), and serum nonpancreatic amylase concentrations were significantly increased at 6 (p=0.016) and 12 months of treatment (p=0.039), whereas serum pancreatic amylase and lipase concentrations did not significantly change at 6 or 12 months of treatment with carbamazepine monotherapy. Furthermore, serum gamma-glutamyltransferase concentrations were significantly increased at 6 (p=0.000) and 12 months of treatment (p=0.000) with carbamazepine monotherapy. There was no significant correlation between serum nonpancreatic amylase concentrations and serum gamma-glutamyltransferase or carbamazepine concentrations at 6 and 12 months of treatment with carbamazepine monotherapy. CONCLUSIONS: These findings indicate that nonpancreatic amylase concentrations may be increased in patients treated with carbamazepine monotherapy. Therefore, measurement of serum pancreatic amylase and lipase concentrations is suggested in epileptic patients receiving carbamazepine monotherapy with symptoms suggesting pancreatic dysfunction, so that unnecessary discontinuing of treatment with carbamazepine should be avoided.
Asunto(s)
Amilasas/sangre , Carbamazepina/farmacología , Epilepsia/enzimología , Lipasa/sangre , Páncreas/efectos de los fármacos , Suero/efectos de los fármacos , Adolescente , Amilasas/metabolismo , Carbamazepina/uso terapéutico , Niño , Epilepsia/sangre , Epilepsia/tratamiento farmacológico , Humanos , Lipasa/metabolismo , Páncreas/enzimología , Suero/enzimología , Factores de Tiempo , Resultado del Tratamiento , gamma-Glutamiltransferasa/sangreRESUMEN
Two infants with congenital microcephaly associated with the factor V Leiden mutation are described. In both cases, brain magnetic resonance imaging (MRI) revealed cerebral atrophy and porencephalic cystic lesions, which were probably attributable to prenatal cerebral vascular events. These findings suggest that assessment for this mutation is an important part of the evaluation of infants with unexplained congenital microcephaly, especially in cases with infarcts and/or porencephalic cysts on brain MRI.
Asunto(s)
Corteza Cerebral/patología , Factor V/genética , Microcefalia/genética , Microcefalia/patología , Mutación Puntual , Atrofia , Quistes/patología , Femenino , Humanos , Lactante , Imagen por Resonancia MagnéticaRESUMEN
A 3-month-old male infant with cytomegalovirus infection and intractable partial seizures was treated with ganciclovir for 6 weeks. The drug was well tolerated, and virus shedding in the cerebrospinal fluid and urine was eliminated, although infantile spasms at the age of 6 months appeared. At the age of 12 months, intractable seizures persisted, and the psychomotor development of the infant was markedly delayed. To our knowledge, no previous similar case has been reported. These findings suggest that treatment with ganciclovir of infants with cytomegalovirus infection results only in cessation of virus shedding in the cerebrospinal fluid and urine without having a preventive effect on the future appearance of infantile spasms. This may be due to the irreversibility of previous brain damage from the cytomegalovirus infection and the virostatic nature of the drug.
Asunto(s)
Antivirales/uso terapéutico , Infecciones por Citomegalovirus/tratamiento farmacológico , Encefalitis Viral/tratamiento farmacológico , Epilepsias Parciales/tratamiento farmacológico , Ganciclovir/uso terapéutico , Espasmos Infantiles/tratamiento farmacológico , Anticonvulsivantes/uso terapéutico , Atrofia , Encéfalo/patología , Daño Encefálico Crónico/diagnóstico , Infecciones por Citomegalovirus/congénito , Infecciones por Citomegalovirus/diagnóstico , Discapacidades del Desarrollo/diagnóstico , Diagnóstico Diferencial , Diagnóstico por Imagen , Progresión de la Enfermedad , Quimioterapia Combinada , Electroencefalografía/efectos de los fármacos , Encefalitis Viral/congénito , Encefalitis Viral/diagnóstico , Epilepsias Parciales/diagnóstico , Estudios de Seguimiento , Humanos , Lactante , Masculino , Espasmos Infantiles/diagnóstico , Esparcimiento de Virus/efectos de los fármacosRESUMEN
The long-term findings on brain magnetic resonance imaging (MRI) in a 7 10/12-year-old boy with a history of acute encephalopathy with bilateral striatal necrosis following measles at the age of 22 months are described. At the early stage of illness, brain MRI studies revealed bilateral, symmetric basal ganglia lesions, predominant on the globi pallidi, appearing as hyperintense signals on T1- and T2-weighted images. Six years later, follow-up brain MRI studies showed that the bilateral, symmetric lesions on the globi pallidi persisted with low signal on T1- and high signal on T2 weighted images. At present, the patient has some persistent neurologic signs. These findings suggest that both clinical and neuroradiologic findings may persist in children with acute encephalopathy with bilateral striatal necrosis following measles.
Asunto(s)
Enfermedades de los Ganglios Basales/patología , Enfermedades de los Ganglios Basales/virología , Cuerpo Estriado/patología , Imagen por Resonancia Magnética , Sarampión/complicaciones , Niño , Humanos , Masculino , Sarampión/patología , NecrosisRESUMEN
Acute necrotizing encephalopathy is a severe parainfectious disorder with a clear racial predilection for Oriental children living in the Far East. The prognosis was originally reported as grave; however, a mild form of the disease has recently been described. A case of parainfluenza virus-associated acute necrotizing encephalopathy in a Caucasian child with a mild clinical course and excellent prognosis is presented. In this patient, the initial clinical picture was not very impressive, and the diagnosis was delayed until the third week of the illness, when neuroimaging was performed. Two months later, clinical and neuroimaging findings had almost completely resolved. Suggested criteria for a benign prognosis, such as normal liver function and cerebrospinal fluid protein levels, asymmetric thalamic lesions, and no brainstem involvement, were relevant in the present case. An extended diagnostic work-up for metabolic, vascular, coagulation, and infectious diseases was negative apart from a seroconversion for parainfluenza virus. To our knowledge, this is the first reported case of acute necrotizing encephalopathy associated with parainfluenza virus infection. Acute necrotizing encephalopathy, especially in the mild form, might not be fully recognized and could be underdiagnosed in Europe, where the reported incidence of the syndrome is very low.
Asunto(s)
Enfermedad de Leigh/diagnóstico , Enfermedad de Leigh/virología , Infecciones por Paramyxoviridae/complicaciones , Infecciones por Paramyxoviridae/diagnóstico , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Pronóstico , Población BlancaRESUMEN
A 12-month-old boy with progressive cranial nerve palsies followed by ventilatory failure demanding artificial ventilation, generalized muscle weakness, and rapid progression to death at the age of 21 months is described. The patient had normal early development and also apparently normal hearing at presentation of illness but, after 6 months of the onset of the disease, hearing loss was documented by brainstem auditory evoked potentials (BAEP). Although the initial clinical and laboratory findings of this infant could fit with the diagnosis of progressive childhood bulbar palsy or Fazio-Londe (FL) disease, the subsequent appearance of hearing loss suggests that this patient represents a case of progressive bulbar palsy with perceptive deafness or Brown-Vialetto-Van Laere (BVVL) syndrome. To our knowledge, this case of BVVL syndrome with severe clinical features and rapid deterioration leading to death is the youngest one reported in the literature. Furthermore, this case emphasizes the need for repeated auditory examinations, including the performance of BAEP in all cases, especially infants and young children with progressive bulbar palsy.
Asunto(s)
Parálisis Bulbar Progresiva/complicaciones , Parálisis Bulbar Progresiva/fisiopatología , Sordera/etiología , Parálisis Bulbar Progresiva/diagnóstico , Sordera/diagnóstico , Diagnóstico Diferencial , Potenciales Evocados Auditivos del Tronco Encefálico , Resultado Fatal , Humanos , Lactante , MasculinoRESUMEN
Acute disseminated encephalomyelitis associated with the parainfluenza virus has rarely been reported in childhood. A 2.5-year-old girl with acute disseminated encephalomyelitis, who developed bilateral symmetrical lesions in the basal ganglion, thalamus, corpus callosum, cerebral subcortical white matter, and cerebellar medulla on brain magnetic resonance imaging is described. Serological confirmation of parainfluenza virus infection was made 2 weeks following the onset of neurological symptoms. Four months later, the patient had a full recovery. At present, 3 years later, no relapse has been reported and she is leading a normal life. Our case is of interest because of its rarity, the striking brain magnetic resonance imaging, and the good neurological outcome.
Asunto(s)
Encéfalo/virología , Encefalomielitis Aguda Diseminada/virología , Infecciones por Paramyxoviridae/complicaciones , Preescolar , Femenino , Humanos , Imagen por Resonancia MagnéticaRESUMEN
Although association of congenital asymmetric crying facies (CACF) with major congenital anomalies of central nervous system (CNS) has been described, brain magnetic resonance imaging (MRI) studies have not been reported. Two children who had CACF associated with agenesis of corpus callosum (ACC) diagnosed by MRI are described. Neurofibromatosis type 1 (NF-1) was diagnosed in one case. Both patients had developmental delay. To the best of our knowledge, only one previous case with CACF associated with ACC has been reported, but our cases are the first cases reported with the characteristic findings of ACC on MRI. Although café-au-lait spots have been described in previous cases, the coexistence of CACF and NF-1 has not previously been reported. Although these associations may be coincidental, clinicians should be aware of the potential link between these entities. Furthermore, these findings emphasize the importance of MRI studies for detecting brain anomalies in cases with CACF and suspected CNS involvement.
Asunto(s)
Agenesia del Cuerpo Calloso , Llanto , Facies , Niño , Cuerpo Calloso/patología , Discapacidades del Desarrollo/complicaciones , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Neurofibromatosis 1/complicacionesRESUMEN
A case of a 7-year-old male with epilepsy who developed non-convulsive status epilepticus (NCSE) with electroclinical features consistent with those of atypical absence seizures after adjunctive antiepileptic therapy of tiagabine (TGB) is reported. The patient had frequent generalised and rare partial seizures with generalised epileptic discharges on prior electroencephalogram (EEG) recordings. NCSE was developed when rapid dosage increase and high dose of TGB was given. This case emphasises the need for close monitoring of children with epilepsy taking TGB for exacerbation of seizures or development of NCSE.
Asunto(s)
Ácidos Nipecóticos/efectos adversos , Estado Epiléptico/inducido químicamente , Niño , Electroencefalografía/métodos , Humanos , Masculino , Estado Epiléptico/fisiopatología , TiagabinaRESUMEN
This study aimed to investigate whether carbamazepine, sodium valproate or phenobarbital as monotherapy in ambulatory epileptic children with adequate sun exposure have some effect on their bone metabolism based on the determination of total serum alkaline phosphatase (AP) levels and its bone isoenzyme activity. Blood samples were obtained from 118 epileptic children (37 on carbamazepine, 47 on sodium valproate and 34 on phenobarbital) and from corresponding healthy controls matched for age, gender and anthropometric parameters. AP and its liver, bone and intestinal isoenzyme levels, other common biochemical markers of bone and liver metabolism and drug levels were measured in the study participants. Patients on carbamazepine or phenobarbital had significantly elevated AP levels accompanied by increased bone and liver isoenzyme activity compared to controls. An increase of bone AP isoenzyme values, correlated with the duration of treatment ( r= 0.49, P= 0.002), was found in children on sodium valproate without, however, a concomitant significant elevation of total AP values. We conclude that children who receive antiepileptic drugs as monotherapy, even when residing in a Mediterranean country with adequate sunlight, may have their bone metabolism affected as indicated by the elevated levels of bone AP isoenzyme. This isoenzyme, but not total AP values, could therefore be used as a marker for the selection of patients who would be benefited by a thorough evaluation of their bone metabolism profile.
Asunto(s)
Fosfatasa Alcalina/metabolismo , Anticonvulsivantes/farmacología , Anticonvulsivantes/uso terapéutico , Huesos/efectos de los fármacos , Huesos/metabolismo , Carbamazepina/farmacología , Carbamazepina/uso terapéutico , Epilepsia/tratamiento farmacológico , Epilepsia/enzimología , Niño , Preescolar , Femenino , Humanos , Lactante , Isoenzimas/metabolismo , MasculinoAsunto(s)
Convulsiones Febriles/epidemiología , Adolescente , Adulto , Edad de Inicio , Niño , Electroencefalografía , Femenino , Estudios de Seguimiento , Humanos , MasculinoRESUMEN
Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN, MIM: 604168), is a recently delineated neurogenetic disease causing recurrent episodes of rhabdomyolysis; prevention and early diagnosis of rhabdomyolysis should be part of the clinical management of the disease.