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El linfangioma es una lesión benigna y poco frecuente que resulta de la malformación congénita del sistema linfático. Suele localizarse con mayor frecuencia en cabeza, cuello, axilas e ingles, aunque puede afectar cualquier localización corporal. El diagnóstico supone un reto para el pediatra, ya que, en la mayoría de las ocasiones, cursa de forma asintomática o con clínica inespecífica. Raramente cursa con síntomas derivados de alguna de sus complicaciones (rotura, hemorragia, infección). El tratamiento es quirúrgico en la mayoría de los casos. Presentamos el caso de un paciente de 9 años que acude al Servicio de Urgencias por dolor abdominal y estreñimiento de corta evolución, objetivándose en ecografía abdominal una gran masa quística cuya biopsia y PAAF revela el diagnóstico de linfangioma gigante. La resección parcial del tumor mejora el cuadro, permaneciendo a partir de entonces el paciente asintomático.Como conclusión, aunque el dolor abdominal y el estreñimiento son síntomas de etiología habitualmente banal, es importante plantearnos dentro del diagnóstico diferencial la posibilidad de masa abdominal.

ObjectiveEpilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study is to describe the clinical features, cognitive profile and prognostic factors in a series of children with EEM.MethodsThis is a retrospective observational study of patients diagnosed with EEM from 2012 to 2022 in a tertiary pediatric hospital.ResultsSeventeen patients were analyzed (mean age at symptom onset 5.8 years). Neuropsychiatric comorbidities were present in 76.4% (attention deficit hyperactivity disorder 58.8%, behavioral disorder 11.8%, autism spectrum disorder 11.8% and psychotic outbreaks 11.8%). Neurocognitive assessment was performed in 75%, revealing cognitive impairment in 66.6% (62.5% with borderline intellectual function and 37.5% with mild intellectual disability ‐IQ <70‐), with predominant difficulties in executive functions, comprehensive language, and motor skills. Cognitive deterioration was observed in one patient in parallel onset with psychotic symptoms. High refractoriness to antiseizure medication (ASM) was observed, with only 23.5% of the patients being seizure free after a mean follow‐up of 7 years. The most effective ASM was valproic acid, and two of them received ketogenic diet with good response. Regarding prognostic factors, psychotic symptoms were associated with a greater number of antiseizure medication (p<0.05) implying a more drug resistant epilepsy.SignificanceIn our study we found a high rate of cognitive and psychiatric comorbidities and high refractoriness. These data support the concept of EEM as an intermediate entity between idiopathic generalized epilepsy and epileptic and/or neurodevelopmental encephalopathy. Making a proper diagnosis and management of these comorbidities is necessary to improve prognosis and quality of life in EEM.

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