RESUMO
Background: Norrie disease is a genetic disorder of the retina characterized by impaired retinal vascular development leading to retinal detachment and blindness. Non-retinal manifestations of the disorder include intellectual disability and seizure disorders. However, to date, no association with neurological mass lesions has been described.Materials and methods: Case reporResults: Here, we report a case of a patient with Norrie disease who presented with an enhancing mass of the choroid plexus that spontaneously diminished in size. Conclusion: This report suggests watchful waiting as a reasonable clinical approach to choroid plexus lesions in patients with Norrie disease.
Assuntos
Cegueira/congênito , Encefalopatias/diagnóstico por imagem , Plexo Corióideo/diagnóstico por imagem , Proteínas do Olho/genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Mutação/genética , Proteínas do Tecido Nervoso/genética , Doenças do Sistema Nervoso/diagnóstico , Degeneração Retiniana/diagnóstico , Espasmos Infantis/diagnóstico , Cegueira/diagnóstico , Cegueira/genética , Encefalopatias/fisiopatologia , Plexo Corióideo/fisiopatologia , Doenças Genéticas Ligadas ao Cromossomo X/genética , Idade Gestacional , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Doenças do Sistema Nervoso/genética , Degeneração Retiniana/genética , Espasmos Infantis/genéticaRESUMO
Cerebral delayed ischemia due to arterial vasospasm is a rare complication following epilepsy surgery. Here we report the third known case and first of diffuse vasospasm. A 48-year-old woman underwent a transcortical anterior left temporal lobectomy. Eleven days later, she had new-onset expressive aphasia with narrowing of the anterior, middle, and posterior cerebral arteries, and increased velocities via transcranial Doppler. She was treated with fluids, nimodipine, and permissive hypertension. At 6 months, her speech was near baseline. Cerebral vasospasm may represent a rare cause of morbidity after anterior temporal lobectomy; a literature review on the subject is presented.
Assuntos
Lobectomia Temporal Anterior/efeitos adversos , Craniotomia/efeitos adversos , Epilepsia Resistente a Medicamentos/cirurgia , Complicações Pós-Operatórias/etiologia , Vasoespasmo Intracraniano/etiologia , Adulto , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Arterial cerebral aneurysms in the neonatal population are rare, and while the association of interrupted aortic arch and intracranial aneurysm has been reported in the adult and pediatric population (three cases each), to date, it has not been reported in the neonate. CASE REPORT: We report the case of a 26-day-old girl who presented with a generalized seizure 2 weeks after undergoing congenital heart surgery. Head CT revealed diffuse SAH with a 1.7 × 2.9-cm frontal intra-parenchymal hematoma with subdural extension producing 3 mm of midline shift. CTA evidenced a 2-mm left MCA bifurcation aneurysm, and the patient was taken to the operating room for clipping. Twenty-four-hour post-operative head CT showed ventriculomegaly and an EVD was placed. It was removed 4 days later without the need for permanent CSF diversion, and after this, her hospital stay was uneventful and she was discharged home. At 25 months of age, she was meeting developmental milestones. At this time, she underwent further heart surgery and expired shortly thereafter due to cardiomyopathy. CONCLUSION: Here, we report the successful treatment of a ruptured neonatal aneurysm, and the first known case associated with interrupted aortic arch. Given the time and presentation, this patient likely illustrates the role of hemodynamic factors in the rupture of neonatal aneurysms. In reviewing all of the reported cases of neonatal aneurysms, promptly securing the aneurysm by either open clipping, parent vessel occlusion, or endovascular coiling is strongly preferable to no surgical intervention.
