Crisis con fiebre en el primer año de vida: ¿epilepsia del espectro Dravet? / Febrile seizures in the first year of life. Dravet spectrum epilepsy?

Introducción: El síndrome de Dravet se caracteriza por una epilepsia resistente a fármacos de inicio en el primer año de vida con crisis con fiebre, y posterior evolución con déficit cognitivo y epilepsia con múltiples tipos de crisis. Habitualmente se diagnosticaba en torno a los 3-4 años de vida, pero el mejor conocimiento de las características de las crisis en los últimos años y el hallazgo de la alteración genética causal más frecuente han permitido adelantar el diagnóstico. Pacientes y métodos: Se presenta una serie de 14 niños diagnosticados de síndrome de Dravet o epilepsia del espectro Dravet. A las características de las crisis ocurridas durante el primer año de vida en estos pacientes, se aplican una serie de criterios de riesgo para ver si es posible hacer el diagnóstico en dicho período de tiempo. Resultados: en el 100% de los niños de esta serie se podía sospechar el diagnóstico en el primer año de vida aplicando estos criterios. Además, el 79% cumplían ya los criterios de riesgo en la primera crisis. Conclusiones: Es posible obtener un índice alto de sospecha de síndrome de Dravet en el primer año de vida. Es esencial, por tanto, la difusión de los criterios clínicos que permiten la sospecha diagnóstica temprana y la distinción de crisis febriles de otro origen, y el establecimiento de un protocolo de recogida de datos para las crisis con fiebre en el primer año de vida(AU)

Introduction: Dravet syndrome is a drug resistant epilepsy which starts in the first year of life with febrile seizures, followed by cognitive impairment and epilepsy with multiple seizure types. Diagnosis has been typically made at the age of three to four years, but earlier diagnosis is now possible as clinical features are better recognised and molecular diagnosis is available. Patients and methods: We studied a series of 14 children with Dravet syndrome or Dravet spectrum epilepsy. A screening test, developed by other authors to distinguish the febrile seizures in Dravet syndrome from febrile seizures from other origin, was applied to the clinical features of the seizures occurring during the first year of life in our patients. Results: Clinical suspicion of Dravet spectrum epilepsy was possible in 100% of children in our series. Moreover, taking into consideration only the first seizure, 79% of patients scored sufficiently to detect Dravet syndrome. Conclusions: Dravet syndrome can be recognised during the first year of life. It is important that physicians are made aware of these clinical criteria capable to distinguish febrile seizures in Dravet syndrome from febrile seizures of other origin, and set up a protocol to collect appropriate data regarding febrile seizures occurring in the first year of life(AU)

[Febrile seizures in the first year of life: Dravet spectrum epilepsy?]. / Crisis con fiebre en el primer año de vida: ¿epilepsia del espectro Dravet?

INTRODUCTION: Dravet syndrome is a drug resistant epilepsy which starts in the first year of life with febrile seizures, followed by cognitive impairment and epilepsy with multiple seizure types. Diagnosis has been typically made at the age of three to four years, but earlier diagnosis is now possible as clinical features are better recognised and molecular diagnosis is available. PATIENTS AND METHODS: We studied a series of 14 children with Dravet syndrome or Dravet spectrum epilepsy. A screening test, developed by other authors to distinguish the febrile seizures in Dravet syndrome from febrile seizures from other origin, was applied to the clinical features of the seizures occurring during the first year of life in our patients. RESULTS: Clinical suspicion of Dravet spectrum epilepsy was possible in 100% of children in our series. Moreover, taking into consideration only the first seizure, 79% of patients scored sufficiently to detect Dravet syndrome. CONCLUSIONS: Dravet syndrome can be recognised during the first year of life. It is important that physicians are made aware of these clinical criteria capable to distinguish febrile seizures in Dravet syndrome from febrile seizures of other origin, and set up a protocol to collect appropriate data regarding febrile seizures occurring in the first year of life.

Manifestaciones oftalmológicas del síndrome de Carney / Ocular findings in Carney complex

Caso clínico: El Complejo de Carney (CNC) es un raro síndrome multineoplásico, autosómico dominante; caracterizado por presentar mixomas, lesiones pigmentadas en la piel, tumores endocrinos y manifestaciones oculares. Discusión: Analizamos los signos oftalmológicos de este síndrome, los cuales suelen preceder al componente más serio del mismo, el mixoma cardíaco

Case report: Carney complex (CNC) is a multiple neoplasia syndrome, inherited in an autosomal dominant manner, characterized by myxomas, spotty skin pigmentation, endocrine tumors and ophthalmic abnormalities. Discussion: We report the ocular findings which usually precede the most serious component of the complex, the cardiac myxoma

[Ocular findings in Carney complex]. / Manifestaciones oftalmológicas del síndrome de Carney.

CASE REPORT: Carney complex (CNC) is a multiple neoplasia syndrome, inherited in an autosomal dominant manner, characterized by myxomas, spotty skin pigmentation, endocrine tumors and ophthalmic abnormalities. DISCUSSION: We report the ocular findings which usually precede the most serious component of the complex, the cardiac myxoma.