Crisis epilépticas como primera manifestación de displasia ósea fibrosa
SUMMARY. Introduction Fibrous bone dysplasia is a rare disorder of bone maturation, which results in hyperostosis of craniofacial bones and diaphysis of long bones. There are monostotic and polyostotic forms, depending on whether one or more bones are affected. Diagnosis is radiological (CT or MRI of the brain) or anatomopathological. The etiopathogenesis is poorly understood. The association of epilepsy and monostotic fibrous bone dysplasia is rare. We present a case of monostotic fibrous bone dysplasia that debuted with epileptic seizures. Clinical case A 28-year-old woman with undiagnosed epilepsy of 12 years' duration. The neurological examination was normal and the EEG was nonspecific. The CT and MRI of the head were indicative of fibrous bone dysplasia. Due to a bilateral campimetric reduction, due to compression of both optic nerves, surgical excision of the affected bones was performed, and the anatomopathological study confirmed the diagnosis of fibrous bone dysplasia. Conclusions The association between epilepsy and monostotic fibrous bone dysplasia is atypical. Epilepsy may be the initial manifestation of asymptomatic fibrous bone dysplasia. The mechanism of production of epileptic seizures may not be related to local compressive or ischemic phenomena, but may be secondary to the alteration of the cAMP mechanism as a second messenger in the cerebral cortex. It would be advisable to subject patients with fibrous bone dysplasia to a neurological study, which would rule out local compressive complications with little clinical expression.
Caso clínico Mujer de 28 años con epilepsia de 12 años de evolución no diagnosticada. La exploración neurológica era normal y el EEG inespecífico. La TC y la RM craneal fueron indicativas de displasia ósea fibrosa. Debido a una reducción campimétrica bilateral, por compresión de ambos nervios ópticos, se realizó exéresis quirúrgica de los huesos afectados, confirmando el estudio anatomopatológico el diagnóstico de displasia ósea fibrosa.
Conclusiones La asociación entre epilepsia y displasia ósea fibrosa monostótica es atípica. La epilepsia puede ser la manifestación inicial de una displasia ósea fibrosa asintomática. El mecanismo de producción de las crisis epilépticas podría no estar relacionado con fenómenos compresivos o isquémicos locales, sino ser secundario a la alteración del mecanismo del AMPc como segundo mensajero en la corteza cerebral. Sería recomendable someter a los pacientes con displasia ósea fibrosa a un estudio neurológico, que descartase complicaciones compresivas locales con poca expresión clínica
