ABSTRACT
PURPOSE: To report two cases of Williams syndrome with ocular manifestations CASE SUMMARY: A 5-year-old boy who was diagnosed with Williams syndrome visited our hospital for ophthalmic examination. Best corrected visual acuity (BCVA) in both eyes was 0.6. He had myopic astigmatism and 8 prism diopters of esotropia. Oval-shaped pupil with a stellate pattern of the iris and increased retinal vascular tortuosity were seen in both eyes. Another case of an 8-year-old boy with Williams syndrome also had myopia in both eyes. BCVA was 0.7 in the right eye and 0.4 in the left eye. A stellate pattern of the iris and increased retinal vascular tortuosity were also seen in both eyes. CONCLUSIONS: Williams syndrome, deletion of 7q11.23, has ocular anomalies including a stellate pattern of the iris, refractive errors, amblyopia, and strabismus. Therefore, careful ophthalmic examination should be considered when children are diagnosed with Williams syndrome.
Subject(s)
Child , Child, Preschool , Humans , Male , Amblyopia , Astigmatism , Esotropia , Iris , Myopia , Pupil , Refractive Errors , Retinaldehyde , Strabismus , Visual Acuity , Williams SyndromeABSTRACT
Objective To investigate the application technology and effect of Navien catheter in intracranial aneurysms embolization.Methods The clinical data of 15 patients with intracranial aneurysm treated with Navien catheter in Department of Neurosurgery of Yijishan Hospital Affiliated to Wannan Medical College from March to December 2016 were analyzed retrospectively. The extracranial segments of internal carotid arteries were seriously tortuous in all patients. The coaxial system was used during procedure. Whether the Navien catheter could be smoothly placed into the target artery or not was observed,and the coils or stent-assisted coils were used to embolize the intracranial aneurysms in the corresponding positions. The immediate embolization results were assessed by the Raymond grading. The intraoperative and postoperative complications were observed and the patients were followed up by imaging.Results All 15 patients had abnormal tortuosity of extracranial segments of internal carotid arteries. The Navien catheter was able to smoothly pass through the tortuous vessels and reach the desired position. The stent-assisted coil embolization was used in 9 patients,and the coil embolization was used in 6 patients. The success rate of the coil and stent placement technology was 100%. The stents were all accurately put in place without shift. According to the Raymond grading,the immediate embolization rate of aneurysms showed that 15 patients achieved Raymond gradeⅠ. One case developed internal carotid spasm during the procedure. The patient was improved after giving papaverine. Others did not have intraoperative complications,such as cerebral vasospasm,vascular dissection,in-stent thrombosis,and intraoperative aneurysm rupture. Five patients were followed up for 3 to 6 months with digital subtraction angiography (DSA). There was no recurrence of aneurysm and no in-stent stenosis and shift,No rebleeding or cerebral ischemia was observed.Conclusion Forpatients with severely tortuous in extracranial segments of internal carotid artery,using the Navien catheter may overcome artery tortuosity and other unfavorable factors of the patients and successfully reach the target vessel position,enable the embolization of intracranial aneurysms to be completed successfully.
ABSTRACT
Se comunican los casos de dos pacientes con síndrome de Bonnet, Wyburn-Mason en quienes existía un aneurisma cirsoide de la retina de diferente grado de desarrollo. En uno, el cuadro oftalmoscópico era obvio; en tanto que en el otro la manisfestación fundamental era una tortuosidad vascular acentuada y en quien solo la angiografía fluoresceínica del fondo ocular mostró sutiles cambios compatibles con una malformación arteriovenosa localizada. Otro elemento inusual en el comportamiento de este tipo de malformaciones fue la asociación a una coartación de la aorta torácica y multiples anomalías esqueléticas sencillas, así como la obstrucción de un segmento muy desarrollado de la malformación arteriovenosa con infarto hemorrágico retiniano e involución posterior de parte de ella
We communicate the cases of two patients with syndrome of Bonnet, Wyburn-Mason who had cirsoide aneurysms of the retina of differnt degrees of development. In one, the ophthalmoscopic picture was obvious, while on the other, The primary manifestation was a marked vascular tortuosity and in which only the ocular fundus fluorescein angiography showed subtle changes consistent with a located arteriovenous malformation. Another unusual element in the behavior of this type of malformations was a coarctation of the thoracic aorta and multiple skeletal anomalies simple associated, as well as the obstruction of a highly developed portion of the retinal arteriovenous malformation with hemorrhagic infarction and consecutive involution of part of it