Diplopia as presenting sign of Turcot syndrome

Abstract

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.

Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome

“…One recent report documented RPEHs similar to those seen in our patient, described as comet-like dark lesions with depigmented tail and smaller, dark midperipheral lesions [24]. Two other reports described appearances of bear tracks and oval RPEHs [22,25]. Genetically, it is unclear whether RPEHs can be found in both TS1 and TS2.…”

“…RPEHs in Turcot syndrome, on the other hand, are not as well described. Review of the literature revealed five reports of retinal/RPE findings along with Turcot syndrome, two of which did not include images or detailed descriptions of the retinal lesions [22–26]. One recent report documented RPEHs similar to those seen in our patient, described as comet-like dark lesions with depigmented tail and smaller, dark midperipheral lesions [24].…”

“…Genetically, it is unclear whether RPEHs can be found in both TS1 and TS2. Thus far, all cases of RPEHs in Turcot syndrome, including this report, document either APC mutations or family history of FAP, indicating TS2 [19,22,26]. RPEHs in TS1 have not yet been reported.…”

“…RPEHs in Turcot syndrome, on the other hand, are not as well described. Review of the literature revealed five reports of retinal/RPE findings along with Turcot syndrome, two of which did not include images or detailed descriptions of the retinal lesions [22][23][24][25][26]. Data from [9,10].…”