pediatric ophthalmology

小儿眼科
  • 文章类型: Case Reports
    伴有周期性痉挛的动眼神经麻痹是一种极为罕见的疾病,其确切的病理生理学仍然是个谜。我们跟踪了一个男孩,从10个月大的症状发作到15岁,并用视频眼图记录了该病例。此外,他被诊断为遗传性运动和感觉神经病(Charcot-Marie-Tooth病1型)。虽然不能排除纯粹的巧合,可以想象,该患者的潜在脱髓鞘神经病使动眼神经更容易受到损害。
    Oculomotor palsy with cyclic spasms is an extremely rare condition whose exact pathophysiology remains a mystery. We followed a boy from the onset of symptoms at the age of ten months until 15 years and documented the case with video oculography. In addition, he was diagnosed with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease type 1). Although a pure coincidence cannot be ruled out, it is conceivable that the underlying demyelinating neuropathy of this patient rendered the oculomotor nerve more susceptible to damage.
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  • 文章类型: Case Reports
    重症肌无力(MG)是一种自身免疫性疾病,其特征是眼部波动无力和疲劳,球杆,肢体,或者呼吸肌.最初,超过一半的MG患者出现孤立的眼部症状,比如眼睑下垂,复视,或者肌肉麻痹.该病例报告显示了一名4岁女性的MG独特发生,展示了两年的突发病史,持续但波动的单侧上睑下垂伴有右眼的外向和内收缺陷。没有观察到复视或全身特征。测试中的阳性结果,包括冰袋测试,科根抽搐标志,可疲劳性,和新斯的明试验,指示眼肌无力。肌电图显示反应减弱,而抗乙酰胆碱抗体显示出临界结果。大脑的计算机断层扫描排除了中央原因,常规实验室检测结果正常.用吡啶斯的明和皮质类固醇治疗导致症状的显着改善。这个案例强调了MG在眼科中的多样化表现,在大约一半的病例中,眼部体征作为指标。早期诊断和及时治疗对于提高长期预后至关重要。急诊医师在排除中央原因后,应将MG视为单侧眼部症状的潜在原因。MG的准确诊断和全面管理对于确保最佳患者健康至关重要。
    Myasthenia gravis (MG) is an autoimmune disorder characterized by fluctuating weakness and fatigue in ocular, bulbar, limb, or respiratory muscles. Initially, more than half of MG patients experience isolated ocular symptoms, such as ptosis, diplopia, or muscle paresis. This case report presents a unique occurrence of MG in a four-year-old female, showcasing a two-year history of sudden onset, persistent yet fluctuating unilateral ptosis accompanied by exo-deviation and adduction deficit in the right eye. No diplopia or systemic features were observed. Positive findings in tests, including the ice pack test, Cogan twitch sign, fatiguability, and neostigmine test, indicated ocular myasthenia. Electromyography revealed a decremental response, while anti-acetylcholine antibodies showed borderline results. Computed tomography of the brain ruled out central causes, and routine laboratory testing yielded normal results. Treatment with pyridostigmine and corticosteroids led to significant improvement in symptoms. This case emphasizes the diverse presentation of MG in ophthalmology, with ocular signs serving as indicators in approximately half of the cases. Early diagnosis and prompt treatment are crucial for enhancing long-term prognosis. Emergency physicians should consider MG as a potential cause for unilateral ocular symptoms after excluding central causes. Accurate diagnosis and comprehensive management of MG are complex yet essential for ensuring optimal patient health.
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  • 文章类型: Case Reports
    该病例报告描述了同一家庭中的两例单侧角膜缘春季角膜结膜炎(VKC)。据我们所知,这是报告的前两例单侧角膜缘VKC病例。VKC是一种慢性炎症性疾病,通常会影响双眼,单侧病例很少见,以前仅报道为tal骨形式。我们的第一个病例涉及一个有过敏性哮喘病史的12岁女孩,她从7岁起就出现了右眼结膜炎。经检查,患者被诊断为单侧角膜缘VKC,并接受1%环孢素滴眼液治疗,在1个月和3个月的随访中观察到显著改善.她7岁的弟弟也接受了检查,发现他的右眼有单侧角膜缘VKC,尽管它较温和,与过敏发病机制无关。因此,在这种情况下,开始使用氢化可的松滴眼液治疗,导致瘙痒立即减轻。在这两种情况下,由于单侧眼受累,IgE介导的机制不太可能。完全没有鼻部症状,症状和任何花粉季节之间缺乏相关性,两个兄弟姐妹之一的皮肤穿刺试验呈阴性。两种情况都表明,即使以角膜缘形式也可能发生单侧VKC,并且遗传机制可能导致VKC的炎症反应。该报告强调需要进一步研究以解释单侧VKC病例的发生,并提醒临床医生考虑小儿患者单侧角膜缘VKC的可能性。
    This case report describes two cases of unilateral limbal Vernal keratoconjunctivitis (VKC) in the same family. To our knowledge, these are the first two reported cases of unilateral limbal VKC. VKC is a chronic inflammatory disease that typically affects both eyes, with unilateral cases being rare and previously only reported in the tarsal form. Our first case involved a 12-year-old girl with a history of allergic asthma, who had been experiencing conjunctivitis in her right eye since the age of 7. Upon examination, she was diagnosed with unilateral limbal VKC and treated with 1% cyclosporine eye drops with a significant improvement observed at the one and three-month follow-ups. Her 7-year-old brother was also examined and found to have unilateral limbal VKC in his right eye, although it was milder and not associated with allergic pathogenesis. Therefore, in this case, a treatment with hydrocortisone eye drops was started leading to an immediate reduction of the itching. In both cases an IgE-mediated mechanism is less likely because of the monolateral eye involvement, the complete absence of nasal symptoms, the lack of correlation between symptoms and any pollen season, and the negative prick skin test in one of the two siblings. Both cases suggest that unilateral VKC may occur even in the limbal form and that genetic mechanisms may contribute to the inflammatory reaction in VKC. This report highlights the need for further studies to explain the occurrence of unilateral VKC cases and reminds clinicians to consider the possibility of unilateral limbal VKC in pediatric patients.
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  • 文章类型: Case Reports
    上睑提肌是导致眼睑抬高的主要肌肉。该肌肉由第三颅内神经支配。任何影响肌肉或供应神经的病理都可能导致上睑下垂。在这项研究中,我们分享了一名2岁男婴患者的经验,该患者患有罕见的先天性疾病,表现为眼睑下垂随着双侧内收而增加,除了双侧下斜肌的作用不足外,眼部肌肉的作用没有限制。据我们所知,这种不寻常的表现以前没有在文献中报道过.我们的目标是在本报告中建立更多关于这种罕见临床表现的知识。根据调查结果,这可能是先天性神经支配失调综合征(CID)/先天性颅骨神经支配失调(CCDDs).CCDDs/CID是一组疾病,包括眼睑下垂作为其临床表现的一部分。这组病症包括Duane的退缩综合征,先天性眼外肌纤维化,和单眼抬高缺损。
    The levator palpebrae superioris is the primary muscle responsible for elevation of the eyelid. This muscle is innervated by the third intracranial nerve. Any pathology affecting the muscle or the supplying nerve can lead to blepharoptosis. In this study, we share our experience of a two-year-old baby boy patient who presented with a rare congenital disorder manifested as blepharoptosis increased with adduction bilaterally with no limitation of ocular muscles action except bilateral underaction of inferior oblique muscles. To our knowledge, this unusual presentation has not been previously reported in the literature. We aim in this report to build more knowledge on such a rare clinical presentation. Based on the findings, this could be a case of congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). CCDDs/CID is a group of conditions that includes blepharoptosis as part of their clinical presentation. This group of conditions includes Duane\'s retraction syndrome, congenital fibrosis of extraocular muscles, and monocular elevation defect.
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  • 文章类型: Case Reports
    背景:皮质类固醇广泛用于医学。在局部使用皮质类固醇后,很少有中心性浆液性脉络膜视网膜病变(CSC)的报道。我们描述了第一例与局部皮质类固醇给药有关的小儿CSC。
    方法:一名14岁男孩视力下降,色素上皮脱离,开始使用0.1%戊酸倍他米松外用软膏治疗特应性皮炎后,右眼出现浆液性视网膜脱离。停用类固醇并服用溴芬酸0.9mg/ml滴眼液后2周,病情缓解。
    结论:尽管对CSC的发病机制知之甚少,眼科医生应了解CSC和局部皮质类固醇治疗之间的潜在联系,他们应该意识到CSC可能,尽管很少,影响孩子。
    BACKGROUND: Corticosteroids are widely used in medicine. Few cases of central serous chorioretinopathy (CSC) have been reported following topical corticosteroid administration. We describe the first case of pediatric CSC related to topical corticosteroid administration.
    METHODS: A 14-year-old boy presented with decreased vision, pigment epithelial detachments, and serous retinal detachments in the right eye after starting treatment for atopic dermatitis with Betamethasone Valerate 0.1% topical ointment. His condition resolved 2 weeks after discontinuing the steroid and administering Bromfenac 0.9 mg/ml eyedrops.
    CONCLUSIONS: Although the pathogenesis of CSC is poorly understood, ophthalmologists should be informed about the potential link between CSC and topical corticosteroid treatment, and they should be aware that CSC might, albeit infrequently, affect children.
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  • 文章类型: Case Reports
    背景:胎儿头皮电极(FSE),EdwardHon于1967年首次描述,是一种直接嵌入胎儿头皮的产时监测设备,用于精确测量胎儿心率。虽然使用FSE通常是安全的,并发症可能来自错位,包括眼部损伤。
    方法:患者是一名28岁的G6P5006患者,由于无症状的双侧肺栓塞,在39周时出现引产。关于外部胎儿监护的发现,导致放置胎儿头皮电极进行密切监护。交付时,注意到新生儿的FSE嵌入在左上眼睑中。咨询眼科,不能排除床边外部检查的眼外伤。手术室麻醉检查显示眼球没有穿透,眼睑裂伤缝合。在一周的随访中,裂伤愈合良好,没有进一步的并发症。
    结论:分娩过程中面部或眉毛出现很少,但可能会增加FSE错位的风险。对于面部或眉毛表现风险较高的患者,必须在放置FSE之前立即进行顶点位置的超声验证。新生儿的眶周水肿可以防止对较深结构的损害。然而,如果FSE放置在眼周区域,应咨询眼科以排除眼外伤。
    BACKGROUND: A fetal scalp electrode (FSE), first described by Edward Hon in 1967, is an intrapartum monitoring device embedded directly into the fetal scalp for an accurate measure of fetal heart rate. Though use of an FSE is generally safe, complications can occur from misplacement, including ophthalmic injury.
    METHODS: Patient was a 28-year-old G6P5006 who presented for induction of labor at 39 weeks due to asymptomatic bilateral pulmonary embolism. Concerning findings on external fetal monitoring led to placement of a fetal scalp electrode for close monitoring. Upon delivery, the neonate was noted to have the FSE embedded in the left upper eyelid. Ophthalmology was consulted and could not rule out ocular injury on external examination at the bedside. Examination under anesthesia in the operating room demonstrated no penetration of the ocular globe, and the eyelid laceration was sutured. The laceration was well-healing at one-week follow-up with no further complications.
    CONCLUSIONS: Facial or brow presentation during delivery is rare but may increase the risk for misplacement of an FSE. Ultrasound verification of vertex position is warranted immediately prior to placing an FSE for patients at higher risk of facial or brow presentation. Periorbital edema of neonates may protect against damage to deeper structures. However, Ophthalmology should be consulted to rule out ocular injury if the FSE is placed in the periocular region.
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  • 文章类型: Observational Study
    目的:报告并调查一名患有Noonan综合征的年轻女孩的眼球突出。
    方法:观察性病例报告。
    结果:一名患有Noonan综合征的16岁女孩接受了完整的眼科检查,显示双侧眼球突出伴外侧直肌和上斜肌功能减退。视敏度,颜色辨别和眼底检查不明显。眼眶MRI显示双侧眼球突出,眼外肌对称增大,腹部增厚和肌腱保留。年轻患者还抱怨限制性肥厚型心肌病。
    结论:下垂是Noonan综合征的一种罕见眼部表现,其病理生理学尚未阐明。与肥厚型心肌病相关的眼外肌增大的MRI证据,引导我们假设在这些特征之下有一个共同的改变的通路,更具体地说是MAP激酶途径,因为眼外和心肌具有间充质胚胎学起源。
    OBJECTIVE: To report and investigate proptosis in a young girl with Noonan syndrome.
    METHODS: Observational case report.
    RESULTS: A 16-year-old girl affected by Noonan syndrome underwent a complete ophthalmological examination showing bilateral proptosis with hypofunction of lateral rectus and superior oblique muscles. Visual acuity, color discrimination and fundus examination were unremarkable. The orbital MRI showed bilateral proptosis and symmetrical enlargement of extraocular muscles, with bellies thickening and tendon sparing. The young patient also complained restrictive hypertrophic cardiomyopathy.
    CONCLUSIONS: Proptosis is an uncommon ocular manifestation of Noonan syndrome and its pathophysiology has never been clarified. The MRI evidence of extraocular muscles enlargement associated with hypertrophic cardiomyopathy, led us to hypothesize a common altered pathway beneath these features, more specifically the MAP kinase pathway, since extraocular and cardiac muscles share a mesenchymal embryological origin.
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  • 文章类型: Case Reports
    背景:两个晶状体的前节段重复是一种罕见的事件,其发病机制仍然未知。不同的眼部和全身异常可能与此类事件有关。
    UNASSIGNED:在此,我们描述了一个6个月的女性儿童因左眼眼部畸形的迹象而转介我们的服务。眼部检查显示,一只眼睛有双晶状体的双眼前段,与双层状混浊和两个玻璃样动脉的持久性有关。患者接受了晶状体切除术和玻璃体切除术的手术治疗,旨在刺激视觉并预防弱视继发的视力丧失。
    结论:在任何眼部畸形病例中,为了避免弱视,必须努力提供足够的视觉刺激。在我们的案例中,不透明的镜片被移除,患者使用隐形眼镜,并将在眼科儿科进行视觉刺激随访,以获得最佳视觉预后。
    BACKGROUND: Anterior segment duplicity with two lenses is a rare event which pathogenesis is still unknown. Different ocular and systemic abnormalities might be associated with such event.
    UNASSIGNED: Hereby we describe a case of a 6-months female child referred to our service due to signs of ocular malformation in the left eye. The ocular exam showed a double anterior segment with twin lenses in one single eye, associated with double lamellar opacity and persistence of the two hyaloid arteries. The patient underwent surgical treatment with lensectomy and vitrectomy aiming visual stimulation and prevention of definitive visual loss secondary to amblyopia.
    CONCLUSIONS: In any case of ocular malformation, efforts to provide adequate visual stimulus are necessary to avoid amblyopia. In our case, the opacified lenses were removed, the patient adapted contact lenses and will be followed-up for visual stimulation at the ophthalmic pediatric division aiming the best visual prognosis possible.
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  • 文章类型: Journal Article
    UNASSIGNED: To study the initial presenting symptoms of Takayasu arteritis in unsuspecting patients.
    UNASSIGNED: The underlying systemic condition was suspected in five subjects at a tertiary eye care center based on their ocular features. Similar reports in the literature were collated and analyzed for the common presenting features of undiagnosed Takayasu arteritis.
    UNASSIGNED: The most common presenting ophthalmic symptoms were vision loss (86.8%), ocular pain (21.1%), eye redness (18.4%), and photophobia (5.3%). There were no reports of glaucoma at presentation. Pupillary abnormalities (42.1%), microaneurysms in retinal mid-periphery (42.1%) and venous engorgement (28.9%) were the most common presenting signs. Despite systemic symptoms such as headache, dizziness, fatigue, weakness, arm claudication, fever, anorexia, weight loss, and syncope in 76.3% of cases, the patients in this series had never sought medical care before developing ocular symptoms.
    UNASSIGNED: Takayasu arteritis may remain latent until the ophthalmic complications compel the patient to seek medical attention. Hence, ophthalmologists need to be aware of the seemingly innocuous presentations of the disease.
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  • 文章类型: Journal Article
    A 6-year-old boy was referred to our hospital for sudden blurring vision in the left eye. An ophthalmological evaluation showed white endothelial keratic precipitates and increased intra-ocular pressure. To our knowledge, this is the first reported case of hypertensive uveitis in children under 10 years of age and we also discuss the role of Epstein-Barr virus as a possible infectious trigger.
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