Síndrome de Aicardi: revisión bibliográfica

Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave "Aicardi", "agenesia del cuerpo calloso", "espasmos infantiles" y "encefalopatía epiléptica". Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz en mujeres con alteraciones en neuroimagen.

Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder's definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. Materials and methods: we performed a retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". Conclusions: since it was first described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities.

The Effect of Smartphone Video on Lead Time to Diagnosis of Infantile Spasms.

OBJECTIVE: To assess whether access to smartphone video capture of infantile spasms at initial presentation is associated with improved time to diagnosis and treatment. METHODS: We conducted a collaborative retrospective cohort study of 80 consecutive infants with confirmed infantile epileptic spasms syndrome initially presenting from 2015 to 2021 at 2 US pediatric centers. Statistical methods used included Mann-Whitney U test to assess the difference in lead times to electroencephalogram (EEG), diagnosis, and treatment between groups with and without video capture. A χ2 analysis was used to assess differences in demographics, clinical characteristics, and treatment outcomes between groups. Multivariate regression analysis was used to account for etiology types and infantile spasms capture on EEG. RESULTS: Patients with smartphone video infantile spasms capture initially presented a median of 9 days earlier (P = .02), had their first EEG 16 days earlier (P = .007), and were diagnosed and started treatment 17 days earlier (P = .006 and P = .008, respectively) compared with the nonvideo group. The video group had a 25% greater response to initial standard treatment (P = .02) and a 21% greater freedom from infantile spasms at long-term follow-up (P = .03), although this long-term outcome lost statistical significance after adjustment for etiology type (P = .07) and EEG capture of infantile spasms (P = .059). CONCLUSION: Our findings suggest a benefit of smartphone video capture of infantile spasms in reduced time to diagnosis and initial standard treatment, which are associated with improved treatment response rates. Substantial differences in lead times and treatment response highlight the clinical importance of pediatricians recommending caregivers to obtain smartphone video of events concerning for infantile spasms.

A Retrospective Cohort Study of Combined Therapy in West Syndrome associated with Trisomy 21.

Background: West syndrome (WS) is a frequent epileptic encephalopathy associated with Down syndrome (DS). This study evaluated an outpatient protocol for WS in patients with DS who received vigabatrin (VGB) or VGB plus adrenocorticotrophic hormone. Methods: We analyzed infants treated in two neuropediatric centers from 2001-2021. We reviewed perinatal and familial history of epilepsy, spasm onset, treatment lag, electroencephalogram, neuroimaging, progression to epilepsy, and other neurological conditions. The outcomes were electroclinical resolution (ECR), relapses, and epilepsy progression. Results: Nineteen infants were included; 57.8% were male. The average spasm onset, follow-up, and treatment lag were 6.4 months, 8.15 years, and 2.33 months, respectively. Almost 74% had ECR after protocol intervention and minor epilepsy progression. Relapses occurred during combined therapy. Conclusions: The treatment protocol, especially combined therapy, was effective for WS in DS, impacting epilepsy progression and indicating the effectiveness of combined therapy to treat WS in patients with trisomy 21.

Vigabatrina comparado con hormona adrenocorticotrópica para el tratamiento de espasmos infantiles y Síndrome de West / Vigabatrin compared with adrenocorticotropic hormone for the treatment of infantile spasms and West Syndrome

OBJETIVO: Determinar los riesgos y beneficios del uso de vigabatrina comparada con hormona adrenocorticotrópica (ACTH) para el tratamiento de espasmos infantiles. MÉTODO: Se realizó una búsqueda en Epistemonikos. Se extrajeron datos desde las revisiones identificadas. Se realizó un metaanálisis a partir de estudios primarios y se utilizó el método GRADE para la presentación de resultados. RESULTADOS: Se identificaron nueve revisiones sistemáticas. Se observó que el uso de vigabatrina en comparación con ACTH disminuye la resolución de espasmos (RR 0,8, IC 95% 0,65 - 0,98) y podría disminuir la resolución de hipsarritmia (RR 0,71, IC 95% 0,48 - 1,05). No fue posible determinar si el uso de vigabatrina disminuye el riesgo de desarrollar efectos adversos (RR 0,75, IC 95% 0,23 - 2,45) por certeza de evidencia muy baja. CONCLUSIONES: La evidencia parece inclinarse a favor del uso de ACTH. Sin embargo debe considerarse la necesidad de nuevas investigaciones para esclarecer su seguridad.

OBJECTIVE: To determine the risks and benefits of the use of vigabatrin compared to ACTH for the treatment of infantile spasms. METHOD: A search in Epistemonikos was performed. Data were extracted from the identified reviews. A meta-analysis was performed from primary studies and the GRADE method was used to present the results. RESULTS: Nine systematic reviews were identified. Vigabatrin use compared to ACTH was found to decrease resolution of spasms (RR 0.8, 95% CI 0.65 - 0.98) and might decrease resolution of hypsarrhythmia (RR 0.71, 95% CI 0 .48 - 1.05). It was not possible to determine whether the use of vigabatrin reduces the risk of developing adverse effects (RR 0.75, 95% CI 0.23 - 2.45) due to very low certainty of evidence. CONCLUSIONS: The evidence seems to lean in favor of the use of ACTH. However, the need for new research should be considered to clarify its safety.

Diagnostic approach to Aicardi syndrome: A case report.

Aicardi syndrome is an X-linked-dominant genetic condition that is present almost exclusively in females. To diagnose Aicardi syndrome, the classic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae must be present. Here, we described a case of a female newborn baby delivered at 36 weeks of gestation that arrived at the emergency department with stiffening of arms and legs; therefore, an electroencephalogram was performed, showing generalized polypots confirming infantile spasms. Moreover, magnetic resonance was performed, showing complete agenesis of the corpus callosum. The patient was then transferred for an ophthalmoscopic examination, which evidenced multiple hypopigmented chorioretinal lesions corresponding to chorioretinal lacunae. Based on the clinical and radiological findings, the diagnosis of Aicardi syndrome was established, and treatment with anticonvulsive therapy and physiotherapy was initiated. This case report highlights the main characteristics that clinicians should consider to suspect this rare genetic condition, emphasizing the imaging and electroencephalographic findings.

Efectos Adversos del Tratamiento con Vigabatrina en Síndrome de West: reporte de 2 casos / Adverse Effects of Vigabatrin Use for West Syndrome treatment: a report of 2 Clinical Cases

El síndrome de West (SW) es un síndrome epiléptico de la infancia temprana. Dentro de los fármacos de primera línea utilizados para su tratamiento se encuentran la hormona adrenocorticotropa (ACTH) y Vigabatrina. Estudios sugieren igual efectividad en el uso a largo plazo de ambos para controlar el SW. En Chile, el uso de Vigabatrina ha aumentado dada su mayor disponibilidad, facilidad de uso y menor costo. Se describen 2 casos clínicos presentando complicaciones agudas infrecuentes secundarias a su uso. Ambos pacientes con antecedentes de SW y trisomía 21. Primer caso: Lactante de 11 meses que inicia tratamiento con 100 mg/kg/día de Vigabatrina a los 7 meses, aumentando a 150 mg/kg/día por mala respuesta. Evolucionó con un síndrome extrapiramidal, con alteraciones radiológicas características. Segundo caso: Lactante de 7 meses, que tras iniciar tratamiento con vigabatrina (100 mg/kg/día) desarrolla rash facial sugerente de hipersensibilidad a fármacos antiepilépticos (FAEs), sin compromiso mucoso ni alteraciones sistémicas. Ambas regresan a su basal luego de suspensión o disminución de dosis del medicamento. Destaca la importancia de la monitorización de efectos adversos en el uso de FAEs y atender la aparición de reacciones poco conocidas. Las alteraciones imagenológicas por Vigabatrina son conocidas, no así el síndrome extrapiramidal asociado (primer caso). Por otra parte, las reacciones cutáneas están ampliamente descritas para múltiples FAEs, pero no para Vigabatrina (segundo caso). Dado el uso frecuente de Vigabatrina para tratar SW y otras epilepsias, es fundamental conocer y manejar reacciones adversas poco conocidas como las aquí presentadas. Palabras claves: Síndrome de West, Síndrome de Down, espasmos infantiles, vigabatrina, reacciones adversas, toxicidad, alergia, rash.

West Syndrome is an epileptic syndrome which typically presents in early childhood. In regard to treatment, the first line includes adrenocorticotropic hormone (ACTH) and Vigabatrin. Studies suggest similar response in the long term to both treatments. In Chile, Vigabatrin is being used more frequently as it is more available, of easier administration and lower cost. We present in the following report 2 clinical cases that presented acute infrequent complications secondary to its use in patients with both Down and West Syndrome. First case: 11-month-old infant who was initially treated with 100mg/kg/day of Vigabatrin at 7 months of age and increased to 150mg/kg/day due to lack of response. She evolved with an extrapyramidal syndrome with radiological manifestations. The second case: 7-month old toddler who initiated treatment with 100mg/kg/day of Vigabatrin and developed a facial rash, suggestive of hypersensitivity to antiepileptic drugs, with no mucosal or systemic involvement. Both patients returned to their previous condition shortly after Vigabatrin was decreased or discontinued. We emphasize the importance of the early monitorization of adverse effects in the use of antiepileptic drugs and awareness of less common reactions. Radiological findings associated with the use of Vigabatrin are well known, but not the clinical evolution with symptomatic extrapyramidal symptoms, as in the first case. Allergic reactions to the use of antiepileptic drugs have also been reported to several drugs, but not to Vigabatrin (second case). As Vigabatrin is being used more frequently to treat WS and other epilepsies it is important to know and manage uncommon adverse reactions as the ones presented in this report. Keywords: West Syndrome, Down Syndrome, infantile spasms, vigabatrin, adverse reactions, toxicity, allergy, rash

Aicardi syndrome: a case report / Síndrome de Aicardi: relato de caso

Abstract Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand infantile spasms. Description: data collection involved information reported by the mother and the accompanying physiotherapist describing the patient's clinical history andmajor complications according to clinical evolution, treatment, and therapeutic response. At two months of age, the child presented a delayed neuropsychomotor development and infantile spasms.However,the diagnosis of the syndrome was only performed at six months of life, involving brain magnetic resonance imaging where corneal body agenesis was observed. A multidisciplinary treatment was assembledwith a neuropediatrician, a physiotherapist, a psychologist, a nutritionistand a speech therapist, besides drug treatment with baclofen and phenobarbital. Discussion: through the established treatment, the child displayedmotor gain, cervical control, improvement of the respiratory condition, and no need forhospital admissions;these outcomescharacterizea good clinical evolution associated with the physiotherapeutic intervention focused on prevention and minimization of respiratory alterationsthatare frequently associated with morbidity and mortality in these cases. The results obtained point out the fundamental role of multidisciplinary intervention in coping with this condition.

Resumo Introdução: a Síndrome de Aicardi (SA), caracteriza-se como uma síndrome rara identificada na presença das três características clássicas: agenesia de corpo caloso, lacunas coriorretinianas e espamos infantis. Descrição: a coleta de dados envolveu informações relatadas pela genitora e pelo fisioterapeuta acompanhante da paciente, descrevendo assim a história clínica da paciente, as principais complicações de acordo com a evolução clínica, o tratamento e resposta terapêutica. Aos dois meses de idade a criança apresentou atraso no desenvolvimento neuropsicomotor e espasmos infantis, porém o diagnóstico da síndrome foi realizado somente aos seis meses de vida envolvendo um exame de ressonância magnética de encéfalo onde foi observada agenesia de corpo caloso, iniciando-se tratamento multidisciplinar com neuropediatra, fisioterapeuta, psicólogo, nutricionista e fonoaudiólogo, além do tratamento medicamentoso com baclofeno e fenobarbital. Discussão: através do tratamento estabelecido, a criança obteve ganho motor, controle cervical, melhora da condição respiratória e sem internações hospitalares, caracterizando uma boa evolução associada particularmente à intervenção fisioterapêutica que teve enfoque na prevenção e minimização de alterações respiratórias frequentemente associadas à morbidades e mortalidade nestes casos. Os resultados obtidos apontam o papel fundamental da intervenção multidisciplinar para o enfrentamento desta condição.

Congenital Zika Syndrome and Infantile Spasms: Case Series Study.

Recently described, the congenital Zika syndrome caused by the Zika virus has many features of other congenital infections. This case series study reports 22 infants with congenital Zika syndrome in Brazil who developed infantile spasms during their first year of life. The median age of infantile spasms onset was 4.3 (±1.4) months and ranged from 1 to 7 months. Neurologic evaluation showed that all 22 children presented severe impairment of neuropsychomotor development. A total of 18 infants had an interictal hypsarrhythmia electroencephalogram (EEG) pattern. Vigabatrin was prescribed as first-line treatment; however, only 5 patients were controlled. Steroid regimes were started for children who did not respond to vigabatrin and they are being followed. In conclusion, congenital Zika syndrome may be considered as an etiological agent of infantile spasms.

Recognition of Infantile Spasms Is Often Delayed: The ASSIST Study.

OBJECTIVES: To characterize and quantify diagnostic and treatment delay among children with infantile spasms, and to estimate the developmental impact of this delay. STUDY DESIGN: In this cohort study, we surveyed the parents of 100 patients with infantile spasms about their experiences with diagnosis and treatment, and ascertained medical and sociodemographic factors potentially related to care of these infants. We specifically determined the latency to first visit an "effective provider," defined as a provider who identified infantile spasms, and prescribed an appropriate first-line treatment, namely adrenocorticotropic hormone, corticosteroids, or vigabatrin. Time to the first visit to an effective provider was evaluated using Cox proportional hazards regression. RESULTS: The median time from the onset of infantile spasms to first visit with an effective provider was 24.5 days. Only 29% of patients were evaluated by an effective provider within 1 week of infantile spasms onset. The time to first effective provider visit was associated with parental language preference, but with no other sociodemographic characteristics. Parents' suspicions that "something is wrong" were often discounted by healthcare providers, and survey respondents frequently reported that pediatricians and neurologists were unfamiliar with infantile spasms. CONCLUSION: This study demonstrates that substantial delay (ie, >1 week) in appropriate care is common, and suggests that the poor awareness of infantile spasms among healthcare providers is at least partly responsible for preventable and potentially significant delays in treatment.

Legionella pneumophila Pneumonia in Two Infants Treated with Adrenocorticotropic Hormone.

Patients with infantile spasms, an intractable epileptic disorder, often are treated with adrenocorticotropic hormone. Legionella pneumophila is a rare cause of pneumonia in children. We describe 2 infants with Legionella pneumonia whose infection occurred within 1 month after starting adrenocorticotropic hormone.

Oral findings in West syndrome ­ A Case Report / Achados bucais na síndrome de West- Relato de um caso

West syndrome is a severe form of epilepsy syndrome which is characterized by a triad of infantile spasms, characteristic EEG findings (Hypsarrhythmia) and developmental delay. Minimal literature is available on dental findings of West syndrome. This case report presents an eight year old male child with cryptogenic form of West syndrome having a history of multiple clusters of infantile spasms. Orodental manifestations of west syndrome have been described and its dental management has been discussed in this report. (AU)

A síndrome de West é uma forma severa da síndrome de epilepsia que é caracterizada pela tríade de espasmos infantil, achados EEG (hipsarritimia) e atraso no desenvolvimento. A literatura disponível é escassa a respeito dos achados dentais e manejo da síndrome de West. Este caso relata uma criança de 8 anos de idade, masculino com a forma criptogênica da síndrome de West com história de múltiplos episódios de espasmos infantis e achados dentais típicos. O tratamento odontológico do caso é discutido e mediadas preventivas e tratamento da síndrome de West é descrito. (AU)

Epilepsy and Mitochondrial Dysfunction: A Single Center's Experience

Abstract Epilepsy is a common manifestation of mitochondrial disease. In a large cohort of children and adolescents with mitochondrial disease (n = 180), over 48% of patients developed seizures. The majority (68%) of patients were younger than 3 years and medically intractable (90%). The electroencephalographic pattern of multiregional epileptiform discharges over the left and right hemisphere with background slowing occurred in 62%. The epilepsy syndrome, infantile spasms, was seen in 17%. Polymerase ? mutations were the most common genetic etiology of seizures, representing Alpers-Huttenlocher syndrome (14%). The severity of disease in those patients with epilepsy was significant, as 13% of patients experienced early death. Simply the loss of energy production cannot explain the development of seizures or all patients with mitochondrial dysfunction would have epilepsy. Until the various aspects of mitochondrial physiology that are involved in proper brain development are understood, epilepsy and its treatment will remain unsatisfactory.

Síndrome de aicardi: presentación de un caso clínico y revisión de la literatura / AicardiÆs syndrome: a case report and literature review

El síndrome de Aicardi (SA), es una rara enfermedad neurogenética, diagnosticada clínicamente por la triada clásica de agenesia del cuerpo calloso, espasmos infantiles y lagunas corioretinales. El objetivo de nuestro trabajo fue presentar el espectro clínico y la evolución de este trastorno en un caso. Reportamos una lactante de dos meses, de malformaciones cerebrales múltiples, que ingresa a emergencia por presentar crisis convulsivas. Durante la hospitalización, los hallazgos clínicos û electroencefalográficos, neuroimágenes y evaluación oftalmológica confirman el diagnóstico de SA. Se resalta la importancia de conocer las manifestaciones clínicas del síndrome, para tenerlo en cuenta como diagnóstico diferencial, sobre todo en aquellos casos que presenten espasmos infantiles asociados a agenesia del cuerpo calloso.

AicardiÆs syndrome (SA) is a rare genetic disease, clinically characterized by the classic triad of agenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. The aim of this presentation is to describe the clinical spectrum and evolution of the disorder. We report the case of a 2-month old female infant with a prenatal diagnosis of multiple brain malformations, brought into the Emergency Room while experiencing seizure spells. During her hospitalization, electroencephalography, neuroimaging and ophthalmologic evaluations confirmed the diagnosis of SA. The importance of knowing the clinical manifestations of the syndrome is emphasized, in order to keep it in mind as part of the differential diagnosis for cases presenting infantile spasms associated with agenesis of the corpus callosum.

El electroencefalograma en el síndrome de West y otras entidades clínicas relacionadas / Electroencephalogram in the West syndrome and other related clinical entities

Se realiza una revisión de las características electroencefalográficas de los espasmos infantiles, espasmos epilépticos o síndrome de West, y otras entidades relacionadas con este. Se enfatiza en los patrones más frecuentes, fundamentalmente en los 2 tipos de hipsarritmia: clásica y periódica o fragmentada, observados en el síndrome anteriormente mencionado. Se comenta en relación con el trazado de suppression-burst o paroxismos-supresión, y su correlación con los síndromes de Ohtahara, y Aicardi y Goutières, descritos respectivamente en 1976 y 1978. Se aclara que estos 2 patrones no son exclusivos de estos síndromes, y pueden ser observados en otras entidades en el neonato, como la encefalopatía anóxica isquémica, la meningitis neonatal bacteriana y trastornos metabólicos, entre otros(AU)

A review was made on the encephalographic characteristics of infantile spasms, epileptic spasms, or West syndrome, and other related entities. Emphasis was made on the most frequent patterns, mainly the two types of hypsarrhythmia, classical and periodic, and fragmented, which are observed in this syndrome. Likewise, comments were made on the suppression-burst or burst-suppression tracing and its correlation with Ohtahara, and Aicardi and GoutiÞres syndromes that were described in 1976 and 1978, respectively. It was clarified that these two patterns are not exclusive of these syndromes and may be also observed in other illnesses affecting the neonates such as anoxic-ischemic encephalopathy, neonatal bacterial meningitis and metabolic disorders, among others(AU)

El electroencefalograma en el síndrome de West y otras entidades clínicas relacionadas / Electroencephalogram in the West syndrome and other related clinical entities

Se realiza una revisión de las características electroencefalográficas de los espasmos infantiles, espasmos epilépticos o síndrome de West, y otras entidades relacionadas con este. Se enfatiza en los patrones más frecuentes, fundamentalmente en los 2 tipos de hipsarritmia: clásica y periódica o fragmentada, observados en el síndrome anteriormente mencionado. Se comenta en relación con el trazado de suppression-burst o paroxismos-supresión, y su correlación con los síndromes de Ohtahara, y Aicardi y Goutières, descritos respectivamente en 1976 y 1978. Se aclara que estos 2 patrones no son exclusivos de estos síndromes, y pueden ser observados en otras entidades en el neonato, como la encefalopatía anóxica isquémica, la meningitis neonatal bacteriana y trastornos metabólicos, entre otros.

A review was made on the encephalographic characteristics of infantile spasms, epileptic spasms, or West syndrome, and other related entities. Emphasis was made on the most frequent patterns, mainly the two types of hypsarrhythmia, classical and periodic, and fragmented, which are observed in this syndrome. Likewise, comments were made on the suppression-burst or burst-suppression tracing and its correlation with Ohtahara, and Aicardi and Goutières syndromes that were described in 1976 and 1978, respectively. It was clarified that these two patterns are not exclusive of these syndromes and may be also observed in other illnesses affecting the neonates such as anoxic-ischemic encephalopathy, neonatal bacterial meningitis and metabolic disorders, among others.

Vigabatrin-induced MRI changes associated with extrapyramidal symptoms in a child with infantile spasms.

Vigabatrin is an antiepileptic drug used for treatment of infantile spasms. We present a female patient with infantile spasms in treatment with vigabatrin who developed ataxic movements. MRI demonstrated a symmetrical pattern of thalamic and globi pallidi diffusion restriction. While these image features have been widely described to be related to the use of vigabatrin, this case highlights the development of movement disorders in association with MRI signal changes. Awareness of the reversible nature of this condition is reassuring for the treating team and avoids unjustified studies.

Ações de enfermagem no cuidado à lactente com síndrome de WEST: um relato de caso / Acciones de enfermería en el cuidado de los bebés con síndrome de WEST: un informe de caso / Actions of nursing care in the infant with WEST syndrome: a c ase report

Objective: Systematizing nursing care to an infant with West Syndrome, using the Nomenclature of Diagnoses/Results and Nursing Interventions. Methods: A descriptive study, of case type study, conducted in a teaching hospital in João Pessoa/Paraíba in October 2010, following the phases of the nursing process. The diagnoses were identified using the Nomenclature of Diagnoses/Results and Nursing Interventions developed and validated for the referred hospital as terms of ICNP ®. The project was approved by the Research Ethics Committee of the hospital, under CAAE: 0052.0.126.000-09. Results: There were identified six nursing diagnoses: psychomotor impairment, seizures, impaired oral hygiene, respiratory pattern changes, risk of infection, family routine changed. Conclusion: The use of a classification of diagnoses /results and interventions directs nursing actions for efficiency in the care of children with West syndrome.

Objetivo: Sistematizar a assistência de enfermagem a uma lactente com Síndrome de West utilizando aNomenclatura de Diagnósticos/Resultados e Intervenções de Enfermagem. Métodos: Estudo descritivo, do tipo estudo de caso, realizado em um Hospital Escola em João Pessoa/Paraíba em outubro de 2010, seguindo as fases do processo de enfermagem. Os diagnósticos foram identificados utilizando-se a Nomenclatura de Diagnósticos/Resultados e Intervenções de Enfermagem desenvolvidos e validados para o referido hospital conforme termos da CIPE®. O projeto foi aprovado pelo Comitê de Ética em Pesquisa do hospital, sob CAAE:0052.0.126.000-09. Resultados: Foram identificados seis diagnósticos de enfermagem: comprometimento neuropsicomotor, convulsão, higiene oral prejudicada, padrão respiratório alterado, risco de infecção, rotina familiar alterada. Conclusão: A utilização de uma nomenclatura de diagnósticos/resultados e intervenções direciona as ações de enfermagem, proporcionando eficiência no cuidado a criança com síndrome de West.

Objetivo: Sistematizar la atención de enfermería a un bebé con síndrome de West utilizando la nomenclatura de diagnósticos/resultados y intervenciones de enfermería. Métodos: Estudio descriptivo, del tipo estudio de caso, realizado en un hospital universitario en João Pessoa/Paraíba, en octubre de 2010, siguiendo las fases del proceso de enfermería. Los diagnósticos fueron identificados con la nomenclatura de diagnósticos/resultados y intervenciones de enfermería desarrollados y validados para el hospital como términos de CIPE®. El proyecto fue aprobado por el Comité de Ética de Investigación del hospital, bajo CAAE: 0052.0.126.000-09. Resultados: Se identificaron seis diagnósticos de enfermería: deterioro neuropsicomotor, convulsiones, higiene oral deficiente, cambios en los patrones respiratorios, riesgo de infección, la rutina familiar cambiada. Conclusión: El uso de una clasificación de diagnósticos/resultados e intervenciones dirige las acciones de enfermería para la eficiencia en el cuidado de los niños con síndrome de West.

Dental findings in children with West syndrome.

INTRODUCTION: West syndrome (WS) is a rare age-related syndrome of epilepsy. The oral manifestations of WS are still unknown. OBJECTIVE: To assess the oral health status and oral findings of a sample of WS children being treated at a specialized referral center. MATERIAL AND METHODS: The dental record forms of 528 children were searched at this center. Eight of the children had been diagnosed with WS. RESULTS: The ages of those with WS ranged from 6 months to 13 years, and 62% of them were male. All of them were taking antiepileptic medication. Twenty-five percent of them had tongue interposition between the dental arches and a deep palate. The mean DMFT was .25 and dmft was 1.12. CONCLUSION: Patients with WS seem to have low caries experience, can have a deep palate, and may have their tongue positioned between the arches or on the incisive papilla.

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

OBJECTIVE: To describe the electroclinical features and the long-term outcomes of epilepsy in a large cohort of males and females with Down syndrome who developed epilepsy in childhood. STUDY DESIGN: Subjects with Down syndrome and cryptogenic epilepsy with onset in childhood were identified retrospectively from the databases of 16 Italian epilepsy centers over a 40-year period. For each subject, age at onset of seizures, seizure semiology and frequency, electroencephalography characteristics, treatment with antiepileptic drugs, and long-term clinical and electroencephalography outcomes were analyzed. RESULTS: A total of 104 subjects (64 males [61.5%], 40 females [38.5%]) were identified. Seizure onset occurred within 1 year of birth in 54 subjects (51.9%), between 1 and 12 years in 42 subjects (40.4%), and after 12 years in 8 subjects (7.7%). Males had a younger age of seizure onset than females. Of the 104 subjects, 51 (49.0%) had infantile spasms (IS), 35 (33.7%) had partial seizures (PS), and 18 (17.3%) had generalized seizures (GS). Febrile seizures were recorded in 5 (4.8%) subjects. Intractable seizures were observed in 23 (22.1%) subjects, including 5 (9.8%) with IS, 8 (44.4%) with PS, and 10 (31.3%) with GS. CONCLUSION: Cryptogenic epilepsy in Down syndrome may develop during the first year of life in the form of IS or, successively, as PS or GS. Electroclinical features of IS resemble those of idiopathic West syndrome, with a favorable response to treatment with adrenocorticotropic hormone seen. Patients experiencing PS and GS may be resistant to therapy with antiepileptic drugs.

Estudio clínico-genético de pacientes cubanos con síndrome de West / Clinical and genetic studies in Cuban patients suffering from West syndrome

El síndrome de West constituye una encefalopatía epiléptica asociada a una amplia diversidad de factores causales, cuyas bases genéticas hasta el momento no se han estudiado en Cuba. Con el objetivo de describir las principales características clínicas y genéticas del trastorno, se realizó un estudio descriptivo, transversal en los pacientes con el síndrome de West, atendido en dos hospitales pediátricos de La Habana desde enero de 2005 a diciembre del año 2009. Predominaron los pacientes masculinos. Inicialmente los casos sintomáticos representaron solo el 53.85% del total. Se identificó la historia familiar positiva de epilepsia en el 51.92% y hubo una recurrencia del diagnóstico de síndrome West en tres familias; lo que orienta hacia la participación del componente genético en el desarrollo de este síndrome epiléptico. El 82.69% presentó hallazgos positivos al examen físico, de ellos, el 11.63% mostró anomalías cromosómicas. Las pruebas metabólicas aportaron diagnóstico en el 17.39% de los casos con antecedentes familiares positivos y/o defectos congénitos. Finalmente se modificó la frecuencia de clasificación del síndrome epiléptico concluyendo el estudio con un 78.85% de casos sintomáticos lo que apoya la utilidad del enfoque genético en la evaluación de los pacientes con síndrome de West.

West Syndrome, which is classified as an epileptic encephalopathy, is associated with an ample variety of etiological factors. Up to this moment, the molecular bases of this entity have not been studied in Cuba. A cross-sectional, descriptive study of West Syndrome was conducted with the purpose of describing the main clinical and genetic characteristics of this syndrome. It included the patients diagnosed in two pediatric hospitals in Havana between January 2005 and December 2009. The study showed a high prevalence of male patients. Initially, symptomatic cases represented only 53.85 % of the sample. A positive family history of epilepsy was detected in 51.92 % of the cases and recurrence of the disease was identified in three of all families included in the study. These two results pointed to a strong genetic component in association with the development of West Syndrome. The 82.69% was found to have positive physical examination findings; among them 11.63 % presented chromosomal anomalies. Metabolic studies confirmed 17.39% of the cases with family history and/or congenital defects. At the end, the frequency of classification for the epileptic syndrome was modified to conclude the study with a 78.85 % out of the symptomatic cases. Results corroborate the importance of a genetic assessment in the evaluation and diagnosis of patients with suspected West Syndrome.