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.

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.

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.