Unsuspected Ganglioneuroma of the Choroid Diagnosed after Enucleation

Abstract

We report a case of an unsuspected ganglioneuroma of the choroid in a patient with neurofibromatosis type 1. A 5-year-old girl presented from an outside institution with right proptosis and glaucoma since birth. Magnetic resonance imaging was obtained and showed a cavernous sinus mass extending into the right orbit and multiple orbital lesions. Additionally, increased signal in the posterior globe of the right eye was noted, but its etiology was unclear at the time. She was lost to follow-up for 3 years and later returned with a blind painful eye. Enucleation was performed, and histopathology was significant for diffuse choroidal ganglioneuroma and advanced glaucoma. We report the atypical history, examination findings, and histopathology to support the diagnosis.

Uveal Ganglioneuroma due to Germline <b><i>PTEN</i></b> Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma

“…These tumors can present with buphthalmos, intractable glaucoma, or as a blind, painful eye [1,2,3,4,5,6,7,8,9,10]. On review of the literature, we found only 9 prior cases of uveal ganglioneuroma reported [1,2,3,4,5,6,7,8,9,10], 7 of which were in the setting of newly diagnosed or previously established NF1 [1,2,3,4,5,6,7,8]. One case of choroidal ganglioneuroma without confirmed NF1 has been reported in the German literature [9], and 1 case was reported in the French literature of which details were not accessible [10].…”

“…Ganglioneuroma of the choroid is a rare tumor usually associated with neurofibromatosis type 1 (NF1), with only 9 cases previously reported [1,2,3,4,5,6,7,8,9,10]. Cowden syndrome is caused by a germline mutation in the PTEN tumor suppressor gene and is characterized by hamartomatous growths as well as an increased risk for breast, thyroid, endometrial, renal, and gastrointestinal cancer [11].…”

Ciliochoroidal ganglioneuroma in neurofibromatosis type 1: Report of a case and review of the literature

“…They may be associated with multiple endocrine neoplasia type IIB and NF1. Since the first reported case of a choroidal neurofibroma containing ganglion cells in 1925, only a handful of cases have been discussed in the literature . Exceptionally, ganglion cells are also found in the ciliary body .…”

“…A review of the literature disclosed only 10 previous cases of uveal ganglioneuroma reported in the English literature. All of them were associated with NF1 (Table ) . The small number of cases reported to date precludes any valid assessment in terms of sex and age distribution of these uveal lesions.…”

New mutation in&nbsp;PTEN&nbsp;identified in patient with rare bilateral choroidal ganglioneuroma

“…Choroidal ganglioneuroma is an extremely rare disease, that only 13 cases have been reported in literatures [1][2][3][4][5][6][7][8][9][10][11][12][13] . Ganglioneuroma is benign neurogenic tumor that occurs with an approximate incidence of 1 case per million in the United States for children 14,15 .…”