VACTERL is a cluster of congenital malformations based on the non-random association of various congenital malformations in a single patient. Here “V” denotes vertebral defects or vascular anomalies (single umbilical artery), “A” anal atresia, “C” cardiac abnormalities, “TE” tracheoesophageal fistula, “R"renal (kidney) abnormalities and “L” for limb anomalies) It is called an association, rather than a syndrome because the complications are not pathogenetically related, tend to occur more frequently than expected and are thought to be linked to embryonic mesodermal defects. Studies have reported the coexistence of various other congenital malformations such as respiratory, cerebral anomalies, which are frequently referred as non-VACTERL-type of associations. Diagnosis of VACTERL association is done only when at least three of the above mentioned congenital malformations are identified in a patient. Although 80% of these cases have vertebral defects, our case is unique as patient does not have one of the commonest occuring association i.e., vertebral anomalies, but has all other associations and an additional non VACTERL brain anomaly, hitherto unreported in the literature. The other highlight of this case is although reports say that VACTERL babies with ipsilateral renal disorder have the same side limb defects, our case has a renal anomaly with no limb anomaly. Finally VACTERL and non VACTERL association was considered in our patient in view of ventricular septal defect, tracheo esophageal fistula, anal atresia, renal anomaly, seizure disorder and global developmental delay due to pontocerebellar hypoplasia.
Ocular metastases secondary to thyroid cancer are extremely uncommon, typically affecting the orbit rather than the globe and uvea. Within the uveal structures, the choroid is more commonly involved than the iris and ciliary body. We present a 56-year-old male patient who underwent total thyroidectomy for metastatic papillary thyroid carcinoma (PTC), solid variant. Whole-body(131) I (WBI) scintigraphy was performed and the patient was treated twice with high-dose (131)I therapy. WBI after the second treatment demonstrated right orbital activity. The patient developed sudden onset of right eye diminished vision and was diagnosed with uveal (choroidal) metastases from PTC.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.