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

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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 café-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.

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About the authors

Irina V. Bolotnikova

Almazov National Medical Research Centre

Author for correspondence.
Email: irinabolotnikovva@gmail.com

MD, Ophthalmologist of the Department of Neurosurgery No. 7 for Children

Russian Federation, Saint Petersburg

Vadim P. Ivanov

Almazov National Medical Research Centre

Email: Dr.viom@gmail.com

MD, Neurosurgeon of the Department of Neurosurgery No. 7 for Children

Russian Federation, Saint Petersburg

Aleksandr S. Shapovalov

Almazov National Medical Research Centre

Email: drship@mail.ru

MD, Neurosurgeon of the Department of Neurosurgery No. 7 for Children

Russian Federation, Saint Petersburg

William A. Khachatryan

Almazov National Medical Research Centre

Email: wakhns@gmail.com

MD, PhD, Dr. Med. Sci., Professor of the Department of Neurosurgery No. 7 for Children

Russian Federation, Saint Petersburg

Vladimir V. Brzheskiy

St. Petersburg State Pediatric Medical University

Email: vvbrzh@yandex.ru

MD, PhD, Dr. Med. Sci., Professor, Head of the Department of Ophthalmology

Russian Federation, Saint Petersburg


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Supplementary files

Supplementary Files
1. Fig. 1. Computed tomography of the child with volumetric reconstruction and contrast enhancement: description in the text

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2. Fig. 2. Magnetic resonance imaging of patient. Volumetric formation of the upper eyelid right orbit with extension into the anterior cranial fossa (arrows)

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3. Fig. 3. Minifrontal approach: a – incisio line; b – resected area of the zygomatic process of the frontal bone; c – view of the operating field after fixation of the resected area with biodegradable miniplates

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4. Fig. 4. General view of the patient before (a) and after (b) surgery. There is a significant decrease of exophthalmos

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Copyright (c) 2022 Bolotnikova I.V., Ivanov V.P., Shapovalov A.S., Khachatryan W.A., Brzheskiy V.V.

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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