RESUMO
Niemann-Pick type C (NPC) is a disorder of the lysosomal metabolism due to biallelic pathogenic variants in NPC1 or NPC2. Intracellular deposit of lipids, mainly unesterified cholesterol, gives rise to oxidative damage in several tissues, mainly neurons, spleen and liver. This, in turn, is associated with a myriad of neurological / psychiatric and visceral symptoms, with wide variability in age of presentation, from prenatal / neonatal to adult-onset forms of the disease. The last few years have seen considerable progress in understanding this disease and its management. In this consensus, current approaches to the diagnosis, follow-up and treatment of NPC (including the use of miglustat, the only specific drug approved at the time) are discussed by an Argentinian panel of experts.
La enfermedad de Niemann-Pick tipo C (NPC) es un trastorno del metabolismo lisosomal que se debe a la presencia de variantes patogénicas bialélicas en los genes NPC1 o NPC2. El depósito intracelular de lípidos, especialmente colesterol no esterificado, provoca daño oxidativo en diversos tejidos, especialmente neuronas, bazo e hígado. Esto, a su vez, induce la aparición de un conjunto de síntomas neurológicos / psiquiátricos y viscerales, con una amplia variabilidad de edad de aparición, desde formas prenatales / neonatales hasta otras de aparición en la vida adulta. En los últimos años ha habido avances considerables en la comprensión sobre esta enfermedad y su manejo. En el presente consenso un grupo de expertos argentinos abordan los enfoques actuales de diagnóstico, seguimiento y tratamiento de NPC, incluyendo el uso de miglustat como única terapia específica aprobada en la actualidad.
Assuntos
Doença de Niemann-Pick Tipo C , Doença de Pick , Adulto , Recém-Nascido , Humanos , Doença de Niemann-Pick Tipo C/diagnóstico , Doença de Niemann-Pick Tipo C/tratamento farmacológico , Doença de Niemann-Pick Tipo C/genética , Consenso , ColesterolRESUMO
Resumen La enfermedad de Niemann-Pick tipo C (NPC) es un trastorno del metabolismo lisosomal que se debe a la presencia de variantes patogénicas bialélicas en los genes NPC1 o NPC2. El depósito intracelular de lípidos, especialmente colesterol no esterificado, provoca daño oxidativo en diversos tejidos, especialmente neuronas, bazo e hígado. Esto, a su vez, induce la aparición de un conjunto de síntomas neurológicos/psiquiátricos y viscerales, con una amplia variabilidad de edad de apa rición, desde formas prenatales/neonatales hasta otras de aparición en la vida adulta. En los últimos años ha habido avances considerables en la comprensión sobre esta enfermedad y su manejo. En el presente consenso un grupo de expertos argentinos abordan los enfoques actuales de diagnóstico, seguimiento y tratamiento de NPC, incluyendo el uso de miglustat como única terapia específica aprobada en la actualidad.
Abstract Niemann-Pick type C (NPC) is a disorder of the lyso somal metabolism due to biallelic pathogenic variants in NPC1 or NPC2. Intracellular deposit of lipids, mainly unesterified cholesterol, gives rise to oxidative damage in several tissues, mainly neurons, spleen and liver. This, in turn, is associated with a myriad of neurologi cal/psychiatric and visceral symptoms, with wide vari ability in age of presentation, from prenatal/neonatal to adult-onset forms of the disease. The last few years have seen considerable progress in understanding this disease and its management. In this consensus, current approaches to the diagnosis, follow-up and treatment of NPC (including the use of miglustat, the only specific drug approved at the time) are discussed by an Argentin ian panel of experts.
RESUMO
PURPOSE: We retrospectively analyzed the electroclinical features, treatment, and outcome of patients with Panayiotopoulos syndrome (PS) who presented with unusual clinical manifestations. METHOD: A retrospective, descriptive, multicenter study was conducted evaluating 44 patients with PS who had seizures with an unusual semiology. Data from patients with PS seen at eight Argentine centers between April 2000 and April 2019 were collected. RESULTS: Twelve patients (29.2%) had ictal syncope or syncope-like epileptic seizures. Three children (7.3%) had recurrent episodes of vomiting. Four patients (9.7%) presented with urinary incontinence associated with autonomic signs and consciousness impairment. One child had hiccups with autonomic manifestations followed by eye deviation. One boy had episodes of laughter with autonomic symptoms followed by loss of consciousness. Six patients (14.6%) had hyperthermia without acute febrile illness with autonomic symptoms as the first manifestation. Six others (14.6%) had focal motor seizures characterized by eye and head deviation in four and eyelid blinking in two. Four patients (9.7%) had ictal headache as the initial manifestation followed by nausea and vomiting. Two children (4.8%) had their first seizure while asleep associated with cardiorespiratory arrest. Two children (4.8%) had oral automatisms, such as sucking and chewing. In two children (4.8%) coughing was the initial manifestation followed by emetic symptoms. One patient (2.3%) had vertigo with a sensation of fear, with eye deviation and unresponsiveness. One child started with continuous spikes and waves during slow sleep, behavior disturbances, and emetic symptoms. CONCLUSION: In this study, evidence of the existence of unusual clinical cases of PS with typical EEG patterns was found. Outcome was excellent.
Assuntos
Eletroencefalografia , Epilepsias Parciais , Criança , Epilepsias Parciais/complicações , Epilepsias Parciais/diagnóstico , Humanos , Masculino , Estudos Retrospectivos , Convulsões/complicações , Convulsões/diagnóstico , SíndromeRESUMO
OBJECTIVE: We describe the evolution of the electroclinical picture of patients with different types of self-limited epilepsy of childhood (SLEC) occurring at the same or at different times with or without atypical evolutions as well as patients with SLEC associated with childhood absence epilepsy (CAE). MATERIAL AND METHODS: A multicenter, retrospective, descriptive study was conducted evaluating patients with SLEC who had focal seizures of different types of SLEC including atypical evolutions as well as SLEC associated with absence epilepsy seen at eight Argentinian centers between April 2000 and April 2019. Of 7705 patients with SLEC, aged between 2 and 14 years (mean, 7.5 years), of whom 2013 were female and 5692 male (ratio, 1:2.8), 5068 patients had SLECTS, 2260 patients had self-limited childhood occipital epilepsy Panayiotopoulos type (SLE-P), 356 had self-limited childhood occipital epilepsy Gastaut type (SLE-G), and 21 had self-limited epilepsy with affective seizures (SLEAS). Electroclinical features typical of more than one SLEC syndrome were recognized in 998 (13 %) children. RESULTS: We recognized three well-defined groups of patients. The most frequent association was SLE-P and SLECTS, the paradigmatic type, but associations of SLE-P and SLE-G, SLECTS and SLE-G, and SLEAS and SLE-P or SLECTS were also recognized. The second-most-common association was SLEC and an atypical evolution. In this group, the most frequent combination was SLECTS with its atypical evolution, opercular status epilepticus, epileptic encephalopathy with continuous spike-and-waves during slow sleep, or Landau-Kleffner syndrome. SLE-P and SLE-G associated with an atypical evolution were also identified. The third, less-frequent group had SLECTS, SLE-P, or SLE-G associated with CAE. These cases support the concept that the different types of SLEC are part of a self-limited childhood seizure susceptibility syndrome. CONCLUSION: Our study demonstrated that 13 % of our patients with SLEC have with different types of SLEC occurring at the same or at different times with or without atypical evolutions - i.e. CSWSS - as well as patients with SLEC associated with CAE, supporting the concept of the self-limited childhood seizure susceptibility syndrome.
Assuntos
Epilepsias Parciais , Epilepsia Tipo Ausência , Estado Epiléptico , Adolescente , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Parciais/complicações , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
OBJECTIVE: Here we present cases of focal epilepsy with affective symptoms analyzing seizure characteristics, EEG pattern, treatment, and outcome. METHODS: A multicenter, descriptive, retrospective study was conducted evaluating 18 patients with self-limited epilepsy who presented with seizures with affective symptoms seen between April 2000 and April 2018 at eight Argentinian centers. RESULTS: Eighteen patients had focal seizures with affective symptoms; all of them had affective symptoms characterized by sudden fright or terror and screaming. Seizures started with manifestations of sudden fright or terror manifested by a facial expression of fear; consciousness was mildly impaired in 15/18 patients. Eleven of the patients also had autonomic manifestations, such as pallor, sweating, and abdominal pain. In addition, four of these 11 patients had ictus emeticus and one also presented with unilateral deviation of the eyes and head. Speech arrest, salivation, glottal noises, and chewing or swallowing movements were observed in 2/18 patients at the onset of the affective seizures. Two others also had mild asymmetric dystonic seizures involving both hands and arms. Three patients had tonic deviation of the mouth involving the lips and tongue as well pharyngeal and laryngeal muscles, resulting in anarthria and drooling. Two patients had brief hemifacial focal clonic seizures. CONCLUSION: Affective manifestations associated or not with motor and/or autonomic manifestations and associated with typical EEG features of the idiopathic focal epilepsies of childhood is a particular presentation of self-limited focal epilepsy in childhood.
Assuntos
Epilepsia , Síndromes Epilépticas , Criança , Eletroencefalografia , Humanos , Estudos Retrospectivos , Convulsões/complicaçõesRESUMO
OBJECTIVE: We describe the electroclinical characteristics of a series of 26 patients with idiopathic West syndrome (WS), who had an excellent response to treatment with vigabatrin (VGB) and corticosteroids alone or in combination. METHODS: Evaluating the records of 178 patients with WS studied at Garrahan Hospital, Niño Jesús Hospital, and Clínica San Lucas between January 2005 and June 2017, we selected 26 patients that met the inclusion criteria of idiopathic WS. The inclusion criteria for idiopathic WS were (1) no personal history of disease, (2) normal neurological examination and neurodevelopment, (3) symmetric spasms in clusters not preceded by any other type of seizure, (d) symmetric hypsarrhythmia, (e) normal electroencephalogram (EEG) background, e.g., normal sleep EEG pattern, (f) normal magnetic resonance imaging (MRI) recording, (g) normal neurometabolic and genetic studies, and (h) at least 2â¯years of follow-up. RESULTS: Fifteen boys and 11 girls met the inclusion criteria of idiopathic WS. The current age of the children ranges between 2â¯years 10â¯months and 12â¯years 10â¯months. Age at first epileptic spasms (ES) ranged from 4 to 11â¯months, with a mean age of 7 and a median of 7.5â¯months, respectively; ES were in clusters, bilateral and symmetrical in all cases. Spasms were flexor in nine (34.7%), mixed flexor-extensor in 15 (57.7%), and extensor in three (7.6%). In all patients the EEG showed typical pattern of hypsarrhythmia. CONCLUSION: These patients with idiopathic WS who have an excellent response to initial treatment should be treated for a short period of time with adrenocorticotropic hormone (ACTH) and VGB alone or in combination.
Assuntos
Espasmos Infantis , Hormônio Adrenocorticotrópico , Criança , Eletroencefalografia , Feminino , Humanos , Lactente , Masculino , Convulsões , Espasmos Infantis/tratamento farmacológico , Resultado do Tratamento , VigabatrinaRESUMO
PURPOSE: We retrospectively analyzed the seizure characteristics, EEG pattern, treatment, and outcome in a series of patients with self-limited epilepsy with centrotemporal spikes (SLECTS) who presented with unusual clinical manifestations. METHOD: A retrospective, descriptive, multicenter study was conducted evaluating 46 patients with SLECTS who had seizures with an unusual semiology. We collected data from patients with SLECTS seen at eight Argentine centers between April 1998 and April 2018. RESULTS: Thirteen patients (28.2 %) had seizures with affective symptoms characterized by sudden fright and autonomic disturbances and mild impairment of consciousness. Eleven patients (24.8 %) had frequent seizures characterized by unilateral facial sensorimotor symptoms, oropharyngolaryngeal manifestations, and speech arrest with sialorrhea only when awake. Seven patients (15.3 %) started with opercular epileptic status with unilateral or bilateral clonic seizures of the mouth with speech arrest and sialorrhea when awake and during sleep. Seven patients (15.3 %) had postictal Todd's paralysis after unilateral clonic seizures with facial and limb movements lasting between 60 min and 130 min. Six patients (13 %) had negative myoclonus, two in a unilateral upper limb, two in a unilateral lower limb, and the remaining two patients had frequent falls. One patient (2.1 %) had focal sensorimotor seizures characterized by unilateral numbness in the cheeks and one upper limb, additional to unilateral facial clonic seizures, speech arrest, and sialorrhea. The remaining patient (2.1 %) had sporadic focal tonic-dystonic seizures in the left upper limb only during sleep. CONCLUSION: In our study, we found evidence of the existence of unusual clinical cases of SLECTS with typical EEG patterns and an excellent prognosis.
Assuntos
Epilepsia , Eletroencefalografia , Humanos , Paralisia , Estudos Retrospectivos , Convulsões/complicações , SialorreiaRESUMO
OBJECTIVE: The purpose of this study was to assess parent satisfaction with the management of ketogenic diet therapies (KDTs) through telemedicine using WhatsApp as the main tool. METHODS: Parent satisfaction was longitudinally evaluated through questionnaires. The survey was developed with Google Questionnaire forms and sent via WhatsApp. The questionnaire consisted of 13 items concerning the management of KDTs using telemedicine in the context of the coronavirus disease 2019 (COVID-19) pandemic. Our population of patients has limited financial resources and low levels of education. Given that many families did not have either computers or WIFI, or any other access to information or communication technology, WhatsApp was chosen as a tool as it was available on the cell phones of all families and the professionals. RESULTS: Our survey showed that 96.3% of the parents were satisfied with the management of KDTs through telemedicine. The main benefits observed were the possibility of continuing treatment during the COVID-19 pandemic and the ease of accessing the professional team from the comfort of their home. Overall, 72.2% of the families would recommend using telemedicine for KDTs in any situation regardless of the pandemic. None of the families reported that they would recommend against treatment by telemedicine. The availability of a social support network (parents WhatsApp group) coordinated by professionals from the KDT team was considered to be useful by most respondents (90%). CONCLUSIONS: Our study suggests that management of children with DRE on KDTs through telemedicine is feasible, well accepted by the families, and probably as safe as conventional medicine. WhatsApp may be an interesting telemedicine tool to start and maintain KDTs.
Assuntos
Dieta Cetogênica/métodos , Epilepsia Resistente a Medicamentos/dietoterapia , Pais/psicologia , Telemedicina , Adolescente , Adulto , Argentina , Betacoronavirus , COVID-19 , Criança , Pré-Escolar , Coronavirus , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Atenção à Saúde , Epilepsia Resistente a Medicamentos/epidemiologia , Feminino , Humanos , Lactente , Masculino , Pandemias , Satisfação Pessoal , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Avaliação de Programas e Projetos de Saúde , SARS-CoV-2 , Mídias Sociais , Inquéritos e QuestionáriosRESUMO
Purpose: The aim of this study was to assess parent satisfaction three years after the implementation of a pediatric epilepsy telemedicine program. Methods: The program was developed with support from the Ministry of Health through Hospital Nacional de Pediatría J.P. Garrahan. A secure internet connection was used for high-speed, high-definition video and audio. Synchronous face-to-face consultation between the patient and the neurologist was used. To evaluate the success of the program, at the end of the consultation the parent or caregiver of the patient was asked to complete a survey evaluating satisfaction with health care, cost, and privacy issues. The survey was administered by community health workers to the parents of patients that were in follow-up or first seen at the rural health posts during 2019. Results: Between January and December 2019, 116 consecutive parents of patients seen at the epilepsy telemedicine clinic filled out a semistructured questionnaire. Mean age of the patients was 8.5 years (range, 117 years); 85 % of the patients had a follow-up of more than 6 months. All the families felt supported by the team and were satisfied with the program in terms of epilepsy management. Less work- and schooltime lost, less travel time and costs, better access to medication, and more regular follow-up visits were reported. The parents considered they had received clear information about the epilepsy of their child. Conclusion: Telemedicine proves to be an important tool in the comprehensive management of people with epilepsy
Assuntos
Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Zona Rural , Telemedicina , Epilepsia , Pacientes , Criança , AutogestãoRESUMO
PURPOSE: The aim of this study was to assess parent satisfaction three years after the implementation of a pediatric epilepsy telemedicine program. METHODS: The program was developed with support from the Ministry of Health through Hospital Nacional de Pediatría J.P. Garrahan. A secure internet connection was used for high-speed, high-definition video and audio. Synchronous face-to-face consultation between the patient and the neurologist was used. To evaluate the success of the program, at the end of the consultation the parent or caregiver of the patient was asked to complete a survey evaluating satisfaction with health care, cost, and privacy issues. The survey was administered by community health workers to the parents of patients that were in follow-up or first seen at the rural health posts during 2019. RESULTS: Between January and December 2019, 116 consecutive parents of patients seen at the epilepsy telemedicine clinic filled out a semistructured questionnaire. Mean age of the patients was 8.5 years (range, 1-17 years); 85 % of the patients had a follow-up of more than 6 months. All the families felt supported by the team and were satisfied with the program in terms of epilepsy management. Less work- and schooltime lost, less travel time and costs, better access to medication, and more regular follow-up visits were reported. The parents considered they had received clear information about the epilepsy of their child. CONCLUSION: Telemedicine proves to be an important tool in the comprehensive management of people with epilepsy.