Combining Surgery, Radiotherapy, and Topical Chemotherapy to Prevent Primary Orbital Exenteration for Atypical Caruncular Melanoma: A Case Report.

Introduction: This case report demonstrates the possibility of successful eye and vision-sparing therapy for caruncular melanoma. Case Presentation: We present an atypical presentation of a caruncular melanoma. After excisional biopsy, residual flat conjunctival melanosis resolved using topical chemotherapy (5-fluorouracil), which was well tolerated. Relapse of the melanoma was treated with external beam radiotherapy, but the tumor grew despite treatment. Eighteen months after complete excision of the relapsed melanoma, the patient remains tumor-free while the eye and its function remain preserved. Conclusion: This case report suggests that aggressive eye-sparing therapy for caruncular melanoma combining surgery, adjuvant topical chemotherapy, and external beam radiotherapy, can be an alternative for primary orbital exenteration.

Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant.

BACKGROUND: Ligneous conjunctivitis is a very rare form of pseudomembranous conjunctivitis with few published cases in literature. We aim to describe the ocular findings and treatment in an infant with ligneous conjunctivitis resembling preseptal cellulitis on presentation. MATERIALS AND METHODS: Case report of a 3-month-old girl who was referred to a tertiary centre for ophthalmic assessment due to progressive eyelid oedema with no response to initiated topical and systemic antibiotics. Ethical approval has been achieved from the local ethics committee of the Ghent University Hospital and informed consent has been obtained from the parents of the child. RESULTS: Examination under general anaesthesia showed multiple, wood-like fibrinous pseudomembranes, originating from the conjunctiva, consistent with ligneous conjunctivitis. After careful removal of the coagulated exudate covering the cornea, a central corneal epithelial defect was evident without stromal infiltration. Histopathologic examination confirmed the predominance of fibrin within the pseudomembranes. Plasminogen activity was below the normal range. Genetic analysis did not identify a pathogenic variant in the PLG gene. The corneal epithelium re-epithelialised during the following days and the conjunctival lesions gradually subsided over the ensuing weeks whilst continuing heparin-containing artificial tears. CONCLUSION: A high level of suspicion is warranted in atypical cases of preseptal cellulitis which show no response to antibiotic treatment. Particularly in young children, examination under general anesthesia is warranted to allow diagnosis of rare causes of secondary eyelid oedema. We report an infant with unilateral ligneous conjunctivitis who responded well to topical, commercially-available heparin-containing artificial tears treatment. This approach is an effective and easy first-line treatment option in this condition, particularly in milder phenotypes.

Congenital bilateral dacryocystocoele: A neonatal emergency.

INTRODUCTION AND IMPORTANCE: Bilateral congenital dacryocystocoele with intranasal extension is very rare and may lead to mild to severe respiratory distress, depending on the degree of obstruction, in an otherwise healthy newborn. If severe, an urgent surgical intervention may be life saving. Our aim is to alert paediatric surgeons to this rare condition. Early detection and early treatment with a minimally invasive surgical procedure may be life saving and prevent severe sequelae due to respiratory distress. CASE PRESENTATION: We present a healthy newborn girl who was admitted to neonatal intensive care with progressive respiratory distress. After a full work-up, she was diagnosed with bilateral dacryocystocoele with intranasal extension and complete obstruction of the anterior nasal cavity. Emergency bilateral endoscopic marsupialization of the cysts with probing of the nasolacrimal duct was performed. The girl recovered without sequelae. CLINICAL DISCUSSION: In congenital dacryocystocoele, coexistent obstruction of the valve of Rosenmüller and the valve of Hasner is observed. Subsequent intranasal protrusion with obstruction of the inferior nasal cavity may occur. The incidence is unknown, but if bilateral, it is very rare. In most cases, a dacryocystocoele is uncomplicated and may be treated conservatively. However, if intranasal protrusion occurs, and especially if the involvement is bilateral, it is a surgical emergency. CONCLUSION: Early diagnosis with subsequent minimally invasive surgical treatment of bilateral congenital dacryocystocoele with intranasal protrusion may prevent serious complications due to respiratory distress.

Charting Extracellular Transcriptomes in The Human Biofluid RNA Atlas.

Extracellular RNAs present in biofluids have emerged as potential biomarkers for disease. Where most studies focus on blood-derived fluids, other biofluids may be more informative. We present an atlas of messenger, circular, and small RNA transcriptomes of a comprehensive collection of 20 human biofluids. By means of synthetic spike-in controls, we compare RNA content across biofluids, revealing a 10,000-fold difference in concentration. The circular RNA fraction is increased in most biofluids compared to tissues. Each biofluid transcriptome is enriched for RNA molecules derived from specific tissues and cell types. Our atlas enables an informed selection of the most relevant biofluid to monitor particular diseases. To verify the biomarker potential in these biofluids, four validation cohorts representing a broad spectrum of diseases were profiled, revealing numerous differential RNAs between case and control subjects. Spike-normalized data are publicly available in the R2 web portal for further exploration.

An atypical case of neurosarcoidosis presenting with neovascular glaucoma.

BACKGROUND: Sarcoidosis, a multisystem, granulomatous disorder, sometimes manifests with a neuro-ophthalmic subtype. The latter can pose a diagnostic challenge, especially when ocular symptoms appear before systemic involvement, as the clinical picture then can be non-specific and systemic laboratory and standard imaging investigations can be negative. FINDINGS: A 71-year-old woman presented with a 4-month history of sudden-onset visual loss in the left eye. Slit lamp examination revealed anterior chamber cells, iris, and angle neovascularization. Fundoscopy showed a pale edematous optic nerve head surrounded with intraretinal hemorrhages and yellow retinal infiltrates. The vasculature was very narrow to absent. Indeed, fluorescein angiography filling was limited to the (juxta-)papillary region. An extensive systemic work-up revealed a monoclonal gammopathy and absence of any inflammatory markers. On MRI, a mass infiltration of the intraorbital and the intracranial optic nerve was visible. Additional PET-CT scan revealed hilar lymph nodes. A transbronchial biopsy demonstrating a non-caseating granulomatous lesion led to the diagnosis of sarcoidosis and thus neurosarcoidosis. Treatment with high-dose prednisone and azathioprine was started to avoid progression and subsequent visual loss in the other eye. CONCLUSIONS: A patient with neurosarcoidosis presenting with compressive ischemic optic disc edema and neovascular glaucoma is described, increasing the diversity of clinical presentations and confirming the diagnostic challenge of neurosarcoidosis.

Diplopia as presenting sign of Turcot syndrome.

PURPOSE: To describe a patient with diplopia who was diagnosed with Turcot syndrome. METHODS: A 10-year-old boy presented with a history of left-sided sixth and seventh nerve palsy. He underwent imaging of the brain and colon, a full ophthalmological and genetic work-up. RESULTS: A 10-year-old boy was referred with combined left-sided sixth and seventh nerve palsy since 1 month without symptoms of raised intracranial pressure. BCVA was 6/6 in both eyes. Fundoscopy revealed bilateral, multiple, oval pigmented ocular fundus lesions (POFLs) in the 4 quadrants. These POFLs, together with the cranial nerve palsies raised the suspicion of Turcot syndrome, a familial neoplasia syndrome characterized by familial colorectal cancer and tumours of the central nervous system. Urgent MRI scan of the brain and stereotactic biopsy showed a primitive neuroectodermal tumour (PNET) at the pons. Coloscopy revealed multiple polyps. DNA analysis of the APC gene confirmed the clinical diagnosis of Turcot syndrome. The PNET was treated with combined radio- and chemotherapy. The patient underwent a prophylactic total colectomy as virtually all patients develop a carcinoma of the colorectal region if left untreated. CONCLUSIONS: Although strabismus is not, diplopia in childhood is rare and seldom innocuous. It requires a prompt and thorough diagnostic evaluation, including thorough, dilated fundoscopy. The presence of POFLs combined with neurological symptoms suggestive of a brain tumour should alert the clinician of the possibility of Turcot syndrome. Recognition of this rare syndrome can lead to earlier diagnosis, which is vital for appropriate surveillance and early surgical intervention of the highly frequent neoplasias in Turcot Syndrome.