Conjunctival involvement in Churg-Strauss syndrome

A 64-year-old man had slowly progressive thickening of the bulbar and palpebral conjunctiva of the right eye, followed by signs and symptoms of an upper respiratory infection. A biopsy specimen of the conjunctival lesions demonstrated granulomatous inflammation with eosinophils compatible with a diagnosis of Churg-Strauss syndrome (asthma, eosinophilia, vasculitis, and granulomatous inflammation with eosinophils). Subsequently, fever, shortness of breath, moderate renal failure, and anemia developed. Therapy with systemic corticosteroids and cyclophosphamide was instituted, with resolution of the systemic and ocular manifestations.     

Conjunctival involvement in Churg-Strauss syndrome

PURPOSE: To describe an unusual case of Churg-Strauss syndrome (CSS) that presented with a conjunctival nodule and was successfully treated with oral corticosteroids. METHODS: Case report. RESULTS: A 30-year-old woman with a history of adult-onset asthma, seasonal allergies, and a lung mass presented with a nodular elevation of the conjunctiva. Excisional biopsy demonstrated necrotizing eosinophilic granulomas. Systemic evaluation revealed peripheral eosinophilia and elevated IgE, consistent with Churg-Strauss syndrome. The patient's symptoms and eosinophilia resolved after an increase in the dose of oral corticosteroids. CONCLUSIONS: This case describes a unique presentation of conjunctival involvement in CSS that differs from prior case reports by having a small, well-demarcated nodule and lacking signs of active inflammation.     

Marginal infiltrative ulcerative keratitis secondary to Churg-Strauss syndrome: a case report

PURPOSE: To describe a patient with keratitis associated with Churg-Strauss syndrome. METHODS: A 44-year-old lady with known Churg-Strauss syndrome was examined with marginal infiltrative ulcerative keratitis. RESULTS: Autoimmune disorders with systemic vasculitis are a major cause of marginal keratitis, and in this patient, the diagnosis of Churg-Strauss was confirmed clinically and pathologically. CONCLUSIONS: Churg-Strauss syndrome should be considered in the differential diagnosis of marginal keratitis.     

Combined central retinal artery and vein occlusion in Churg-Strauss syndrome: case report

PURPOSE: To describe a rare case of Churg-Strauss syndrome presenting with severe visual loss due to a combined central retinal vein and artery occlusion. METHODS: A 42-year old man with a medical history of asthma and blood hypereosinophilia developed a sudden loss of vision in his right eye. We describe the clinical features and evolution of the case after treatment. RESULTS: A combined occlusion of the central retinal artery and central retinal vein was diagnosed by the funduscopic appearance of retinal whitening, macular cherry-red spot, papilloedema, retinal haemorrhages in all four quadrants and dilated and tortuous veins. The diagnosis was confirmed by a fluorescein angiogram showing absence of retinal filling and normal choroidal filling. Churg-Strauss syndrome was diagnosed based on the necessary presence of four of six criteria for the disease proposed by the American College of Rheumatology. Corticosteroid therapy was initiated. However, during the following year when tapering off the daily dosage, the patient experienced two relapses, with pulmonary symptoms and hypereosinophilia, and the corticosteroid dosage had to be augmented. The patient presented with neovascular glaucoma 7 weeks after the vascular occlusion and experienced no visual improvement. CONCLUSION: Combined central retinal artery and vein occlusion can occur in Churg-Strauss syndrome. We suggest that regional vasculitis may be the pathological mechanism underlying the vascular occlusions observed in our case. The condition carries a very poor prognosis for vision, due to the resulting retinal ischaemia, and a poor general prognosis due to the late stage of the systemic disease. Corticosteroids should be instigated promptly in order to prevent further systemic or ocular vasculitis.     

Punctal and peri-punctal involvement in Urbach-Wiethe syndrome: case report and review of literature

Urbach-Weithe syndrome is an exceedingly rare multisystem disorder characterized by pathognomonic clinical findings of multiple beaded papules along the eyelid margins and peri-ocular areas and hoarseness of voice secondary to intercellular deposition of periodic acid Schiff (PAS)-positive hyaline material. Lacrimal drainage anomalies are not well defined in this syndrome; however, punctal involvement and acquired nasolacrimal duct obstructions have been reported. We present a patient of Urbach-Weithe syndrome with bilateral punctal and peri-punctal involvement.     

Apert's syndrome: a case report

Apert's syndrome is a type of acrocephalosyndactylia that is from part of the great group of craniofacial synostoses. It is characterized by craniofacial dysmorphia and syndactylia on hands and feet, which differentiates it from Crouzon's disease. It is a rare affection that is often transmitted through an autosome dominant mode, but sporadic cases exist. We report the case of a 15-year-old girl who presented characteristic clinical signs of Apert's syndrome with normal karyotype without parental consanguinity. The Ser 252 Trp mutation of the FGFR2 gene was found, confirming the molecular diagnosis. This study illustrates the severity of ocular and neurological problems of untreated Apert's syndrome. The presence of hemoglobinopathy (Hb AS) is also a mark of its originality.     

Posner-Schlossman syndrome: a case report

BACKGROUND: Glaucomatocyclitic Crisis (AKA Posner-Schlossman syndrome) is a syndrome that affects patients between the ages of 20 and 50 years. It is characterized by a mild recurrent anterior uveitis associated with an out-of-proportion intraocular pressure spike in the same eye. The cause is unclear, but many theories exist. Some researchers have tried to connect it with primary open-angle glaucoma. CASE REPORT: A review of the record of a 41-year-old Hispanic woman with Posner-Schlossman syndrome is discussed. She sought treatment on multiple occasions with symptoms of mild pain, photophobia, and a blurry left eye. Examination revealed mild anterior chamber reaction and an intraocular pressure (IOP) spike in the same eye. She was treated with topical anti-inflammatory and pressure-lowering agents. Each individual flare-up was treated successfully, but the patient began to show equivocal signs of primary open-angle glaucoma (PDAG). She is currently treated prophylactically for POAG with a beta-blocker. No etiologic factor was identified in this patient. The differential diagnosis is straight-forward and the treatment is general uveitic therapy--minus cycloplegics--combined with an IOP-lowering drop. CONCLUSION: This is an interesting and relatively rare uveitic condition. The list of differential diagnoses is long, as is the theorized etiologies; however, clinically the condition is relatively quickly identifiable by the presence (and absence) of signs and symptoms.     

Weill-Marchesani综合征

本文报告1例合并角膜厚度增加,伴先天性心脏病及并发性角膜内皮损害的Weill-Marchesani综合征(WMS)病例,并结合复习文献,对本病的发病机制、临床特征及诊治要点作一归纳介绍。患者为26岁女性,身高143cm,双手短指,高度近视[OD:0.3(sph-24.50-3.00x105cyl),OS:0.4(sph-24.50-3.50cylX70)],双眼球形晶状体伴晶状体脱位,继发性青光眼。超声生物显微镜检查示双前房浅,房角关闭。超声心动图检查提示先天性心脏病,肺动脉瓣狭窄。角膜厚度右眼:588μm,左眼:598μm。患者经YAG激光虹膜打孔后,前房加深,房角开放,眼压控制。2mo后测角膜内皮周边大量空洞并融合成片。我们认为,WMS患者角膜厚度增加很少被人认识,其所带来的对眼压测量的影响应该引起注意;YAG激光虹膜打孔对于急性期缓解WMS瞳孔阻滞,降低眼压,维持前房深度具有很好的疗效;WMS多合并先天性心脏病,应常规行超声心动图检查;晶状体脱位对周边角膜内皮造成的损害不能忽视。     

Poland-Moebius syndrome: a case report

BACKGROUND: The primary site of pathology in Moebius syndrome is still unknown, although several studies have variably localized the lesion in the extraocular muscles, cranial nerves, or central nervous system. CASE: A 24-year-old man with Poland-Moebius syndrome and acquired progressive bilateral paralytic lower eyelid ectropion is described. OBSERVATIONS: In this patient, magnetic resonance imaging studies revealed a barely detectable pontine hypoplasia and normal recti muscles. Nerve conduction studies of the facial nerves showed a severe demyelinating or dysmyelinating type of neuropathy. Bilateral lower eyelid ectropium of the patient was successfully corrected by canthal tightening procedures. CONCLUSION: Contrary to many reported cases, this patient serves as a rare example of a progressive type of Poland-Moebius syndrome presumably resulting from a combination of a brainstem abnormality and a peripheral neural degenerative process.     

Urbach-Wiethe syndrome: a case report

We present a case of Urbach-Wiethe syndrome with typical findings, including ocular lesions. A 15-year-old girl was referred to our department complaining of itchy eyelid lesions (moniliform blepharosis) associated with other systemic manifestations. Diagnosis was confirmed by performing skin biopsy. Artificial tears were prescribed, with partial relief of the symptom. The objective of the present study is to describe a typical case of Urbach-Wiethe syndrome attended at the Ophthalmologic Sector of the Medical School of Marília.     

Oculocerebrocutaneous syndrome: a case report

There are many congenital ocular malformations associated with systemic findings. In cases such as oculocerebrocutaneous syndrome, the severity of systemic findings makes diagnosis particularly important. This case report presents a case of this uncommon syndrome and demonstrates the common findings.     

McCune Albright syndrome - diffuse orbital involvement due to fibrous dysplasia: a case report

Fibrous dysplasia is a benign, slowly progressive bone disorder, in which normal bone is replaced by fibrous tissue. It is called McCune Albright syndrome when associated with skin hyperpigmentation and endocrinological disorders. We report a rare case of McCune Albright syndrome in a boy, who presented bilateral and diffuse involvement of orbits but few external craniofacial distortions.     

伴有神经系统症状的白塞病1例

白塞病是一种慢性、系统性疾病。其特征为复发性口腔、生殖器溃疡,眼部炎症同时伴有皮肤、关节的异常。病程中偶可见神经系统受累。我们报告1例病程中出现神经系统症状的白塞病的患者病例。白塞病有可能被误诊为神经系统肿瘤。