Orbital plexiform neurofibroma associated with congenital glaucoma in a child with neurofibromatosis type I: a case report

Abstract

The article describes a clinical case of familial neurofibromatosis type I. This diagnosis was made in a nine-month-old patient according to the diagnostic criteria recommended by the International Expert Committee on Neurofibromatosis. Clinicaly, there were hyperpigmented caf-au-lait spot on the skin, the presence of one plexiform neurofibroma, the father had a genetically confirmed diagnosis of neurofibromatosis type I. Also after birth, this patient was diagnosed with buphthalmos.
 A mutation in the Neurofibromin gene NFI leads to increased cell proliferation, with a rapidly progressive course, characterized by combined damage to the skin, eyes, nervous system and some internal organs, leading to neuroectodermal and mesodermal dysplasia. Neurofibromin is an intracellular protein in the human genome that regulates several pathways of growth control and plays a key role in the pathogenesis of congenital glaucoma associated with neurofibromatosis type I and plexiform neurofibroma. Plexiform neurofibroma originates from the sheaths of the peripheral nerves, often affects multiple nerves, is abundantly perfused, and is a benign neoplasm, but there is a lifelong risk of malignancy. On the other hand, congenital glaucoma is a relatively rare disease, usually due to infiltration of the anterior chamber angle by neurofibromas, closure of the angle by neurofibromatous-thickened ciliary body and choroid, fibrovascularization. The clinical picture of neurofibromatosis type I can be very variable, even among members of the same family. Under the influence of a combination of pathogenetic factors, an asymptomatic course is determined in one individual, while in another, the disease proceeds in a severe form, up to disability.
 Surgical treatment for isolated orbital plexiform neurofibroma is used to decompress the orbit and prevent malignancy of the tumor. It should be noted that due to the peculiarity of the structure of the tumor, its total removal is often not possible. In this case, mini-frontal access was used.
 After the intervention, exophthalmos regressed, ophthalmotonus returned to normal. The child was discharged in a satisfactory condition.
 Thus, the described clinical case is of particular interest, based on the combination of orbital plexiform neurofibroma and congenital glaucoma associated with neurofibromatosis type I.