Pediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma

Abstract

Ocular findings of multiple endocrine neoplasia type 2B (MEN 2B) include prominent corneal nerves, mucosal neuromas of the conjunctiva, glaucoma, and dry eyes. A 15-year-old girl with MEN 2B presents with advanced secondary open-angle glaucoma and bilateral perilimbal masses. High-resolution optical coherence tomography (HR-OCT) of the perilimbal lesions showed normal epithelial thickness and subepithelial lobular areas of mixed reflectivity, which correlates well with histopathologic findings of benign mucosal neuromas. The patient underwent bilateral gonioscopy-assisted transluminal trabeculotomy (GATT) in both eyes, which achieved adequate intraocular pressure control at short-term follow-up. To the authors' knowledge, this is the first report correlating HR-OCT and histopathologic findings in benign mucosal neuroma associated with MEN 2B, and the first description of secondary open-angle glaucoma associated with MEN 2B treated with GATT.

MEN2B syndrome – paediatric case report

“…[21,22]. Glaucoma has been reported in both adult and paediatric patients; however, it is not as common as mucosal lesions [23,24]. Due to this clinical picture, MEN 2B may be suspected early in childhood mostly by the presence of marfanoid phenotype and mucosal neuromas and fibroids on the dorsal surface of the tongue, palate, or pharynx [3,25].…”

Ab-interno Trabeculotomy Procedures: A Review

“…Regarding the conjunctival-sparing nature of GATT, it can be a suitable alternative in patients with previous PKP who may need rigid gas-permeable or scleral contact lenses. 46 Furthermore, GATT has been reported to be safe and effective in the management of SOAG in a case of multiple endocrine neoplasia type 2B 47 and in two patients with scleromalacia secondary to scleritis. 48 …”