Endolymphatic sac tumour in von Hippel-Lindau disease: management strategies.

Endolymphatic sac tumour (ELST) is infrequent, as emerges from small series reported in the literature. It is a slow-growing malignancy with local aggressiveness and a low risk of distant metastases. It is often misdiagnosed because of the late onset of symptoms and difficulty in obtaining a biopsy. Its frequency is higher in von Hippel-Lindau (VHL) disease (a genetic systemic syndrome involving multiple tumours), with a prevalence of around 25%. The diagnosis is based on radiology, with specific patterns on contrast-enhanced MRI and typical petrous bone erosion on bone CT scan. Our experience of ELST in the years between 2012-2015 concerns 7 cases, one of which was bilateral, in patients with VHL disease. Four of the 7 patients underwent 5 surgical procedures at our institution. Each case is described in detail, including clinical symptoms, and the intervals between symptom onset, diagnosis and therapy. Postoperative morbidity was low after early surgery on small tumours, whereas extensive surgery for large tumours was associated with loss of cranial nerve function (especially VII, IX, X). The critical sites coinciding with loss of neurological function were the fallopian canal, jugular foramen, petrous apex and intradural extension into the posterior cranial fossa. Early surgery on small ELST is advocated for patients with VHL disease, in whom screening enables a prompt diagnosis and consequently good prognosis.

Transnasal endoscopic management of anterior cerebrospinal fluid (CSF) leak: experience from a large case series.

Transnasal endoscopic management of anterior cerebrospinal fluid (CSF) leak: experience from a large case series. OBJECTIVES: Anterior cerebrospinal fluid (CSF) leak is a consequence described after head trauma, skull base surgery or inflammatory diseases, but may also occur spontaneously. Prompt recognition and management is crucial in order to avoid complications and to achieve successful surgical repair. The purpose of this study is to present the clinical features of a large group of patients with anterior CSF leak and the results of their surgical management. METHODOLOGY: The study approach was a retrospective review of 110 consecutive patients treated by the same surgeon for CSF leak of the anterior skull base via a transnasal endoscopic approach between 2003 and 2013. Patients with anterior skull base surgery due to cancer or pituitary adenoma were excluded from this study. The diagnostic workup included nasal endoscopy, beta2-transferrin and -trace protein assay in the rhinoliquorrhoea and radiological imaging. The intrathecal fluorescein test was performed in selected cases. The surgical techniques used to repair dural defects were primarily middle turbinate placement and fascia lata grafting. RESULTS: Primary endoscopic repair of the CSF fistula was successful in 106/110 (96.4%) patients. Four patients (3.6%) required a revision procedure due to early failure of the repair. After a minimum follow-up of 24 months, no recurrent CSF leaks were observed in the study group. None of the patients developed meningitis as a surgical complication. CONCLUSIONS: The endoscopic transnasal approach is a reliable technique for treating CSF leaks. The intrathecal fluorescein test is safe and helpful in locating the defect. The fascia lata proved the best graft available in our experience.

Nasopharyngeal thyroid-like low-grade papillary adenocarcinoma.

OBJECTIVE: Epistaxis is extremely common in children. Although rare, the presence of an intranasal mass as a cause of bleeding should be ruled out in patients with recurrent or massive epistaxis. We present a patient whose recurrent nose-bleeding had been due to a nasopharyngeal mass. METHODS: Case report with relevant literature review. RESULTS: A 15-year-old girl with a history of sudden posterior nasal bleeding was diagnosed with thyroid-like low-grade nasopharyngeal papillary adenocarcinoma of the nasopharynx. A type II nasopharyngeal endoscopic resection was performed with an excellent outcome at 30-months follow-up. The literature review on the topic disclosed only five other paediatric cases, none of which presented with epistaxis. CONCLUSIONS: Recurrent epistaxis may infer the presence of nasopharyngeal malignant neoplasms, even in children. To our knowledge, this represents the sixth case in the literature of a paediatric low-grade nasopharyngeal adenocarcinoma and the first presenting with massive epistaxis. The possibility of such a finding should be kept in mind when evaluating children with massive epistaxis.