Orbital metastasis from neuroendocrine tumour: Case report and literature review.

Orbital metastases from neuroendocrine tumour are rare entities. An incidental finding of orbital metastasis originating from neuroendocrine tumour is presented in the context of a comprehensive review of all case reports and series published to date. Demographics, clinical features, diagnostic work-up, treatment and prognostic data from the published literature are discussed. Ninety-five patients with orbital metastases from neuroendocrine tumours have been reported so far. Average age at presentation is 63.8 years (range 25-86), with no significant gender predominance. Gastrointestinal tract is the most common site of primary neuroendocrine tumours (62-85%). Typical presentation includes proptosis (80-85%) and diplopia (27-62%) in patients with known primary neuroendocrine tumour elsewhere. Histological subtype and presence of metastases seem to be important prognostic factors. Incidental finding of neuroendocrine tumour mestastases in asymptomatic patients with unknown primary disease is uncommon. In such cases, orbital biopsy and structural and functional imaging are essential to establish a diagnosis and stage the disease.

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.

BACKGROUND: The genetic basis of monocular elevation deficiency (MED) is unclear. It has previously been considered to arise due to a supranuclear abnormality. METHODS: Two brothers with MED were referred to Leicester Royal Infirmary, UK from the local opticians. Their father had bilateral ptosis and was unable to elevate both eyes, consistent with the diagnosis of congenital fibrosis of extraocular muscles (CFEOM). Candidate sequencing was performed in all family members. RESULTS: Both affected siblings (aged 7 and 12 years) were unable to elevate the right eye. Their father had bilateral ptosis, left esotropia and bilateral limitation of elevation. Chin up head posture was present in the older sibling and the father. Bell's phenomenon and vertical rotational vestibulo-ocular reflex were absent in the right eye for both children. Mild bilateral facial nerve palsy was present in the older sibling and the father. Both siblings had slight difficulty with tandem gait. MRI revealed hypoplastic oculomotor nerve. Left anterior insular focal cortical dysplasia was seen in the older sibling. Sequencing of TUBB3 revealed a novel heterozygous variant (c.1263G>C, p.E421D) segregating with the phenotype. This residue is in the C-terminal H12 α-helix of ß-tubulin and is one of three putative kinesin binding sites. CONCLUSION: We show that familial MED can arise from a TUBB3 variant and could be considered a limited form of CFEOM. Neurological features such as mild facial palsy and cortical malformations can be present in patients with MED. Thus, in individuals with congenital MED, consideration may be made for TUBB3 mutation screening.

Routine use of positive oral contrast material is not required for oncology patients undergoing follow-up multidetector CT.

The purpose of this retrospective medical audit was to evaluate the effect of discontinuing routine administration of oral contrast material to oncology patients undergoing follow-up multidetector computed tomography (CT) on reader evaluation of study adequacy. Analysis of 100 patients' experience of CT shows that positive oral contrast material was their least pleasant experience (P < .0001). Abandoning the routine use of positive oral contrast material for follow-up scans in general oncology patients undergoing multidetector CT, with section reconstruction thickness of 2.5 mm, was audited for 447 patents and included 5-13-month follow-up. The patient satisfaction study and clinical audit were performed according to local institutional audit guidelines. Since this was a clinical audit project, ethical approval was not required under UK National Health Service research governance arrangements. No patient needed to be recalled, no related diagnostic error has been reported, and follow-up CT, available in 285 of 447 cases (64%), revealed no error on the audited scan. We conclude that the routine use of positive oral contrast material is unnecessary for follow-up multidetector CT for general oncology indications.