A novel approach to the management of severe facial disfigurement in neurofibromatosis type 1

A 12-year-old girl with neurofibromatosis type 1 underwent subtotal anterior exenteration of a blind, unsightly, buphthalmic eye and orbital/eyelid plexiform neurofibroma. Simultaneously, a channeled Medpor orbital implant was positioned to reduce a meningoencephalocele resulting from severe sphenoid wing dysgenesis. Two-stage osseointegration was subsequently performed to permit secure fitting of an orbital prosthesis. This patient's cosmesis and social interaction were improved markedly with this surgical approach for disfiguring ocular, eyelid, and orbital disease due to neurofibromatosis type 1.     

An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.     

Orbital plexiform neurofibroma and high axial myopia

PURPOSE: To report a group of children with neurofibromatosis type 1 and orbital plexiform neurofibroma who developed axial myopia in the associated eye. METHODS: The clinical records and imaging of 3 patients with neurofibromatosis type 1 and orbital plexiform neurofibromas were reviewed. RESULTS: Three patients were identified who were diagnosed with orbital plexiform neurofibromas at the ages of 10 months, 9 months, and 16 years old. In all cases the axial length of the eye associated with the neurofibroma increased with length compared with the unaffected eye over time. Accordingly, the affected eye became increasing myopic with age, while the unaffected eye remained emmetropic. CONCLUSIONS: Eyes affected with orbital plexiform neurofibroma, a hallmark of neurofibromatosis type 1, appear to be associated with increased axial length and myopia. This is of particular importance in children, to diagnose and treat unilateral high myopia early and prevent anisometropic amblyopia.     

Eyelid neurofibroma affecting a young woman

A 43-year-old female patient had an amelanotic single tumor thickening the upper right eyelid and observed since early childhood. Clinically, it appeared as a firm mass, without sharp margins, giving a thickened appearance to the superior eyelid. The ophthalmic clinical examination was normal but some subcutaneous nodules attested to the diffusion of the disease recognized as a limited form of neurofibromatosis 1. Although well tolerated, it gave rise to a cosmetic disturbance and the patient was willing to undergo an excision. A complete surgical excision was performed on the lesions and the pathological study disclosed a typical neurofibroma. Regular observation of the different cutaneous nodules was recommended.     

Unilateral congenital ptosis due to plexiform neurofibroma, causing refraction error and secondary amblyopia.

An 8-year-old boy with congenital ptosis of the right upper eyelid due to plexiform neurofibroma was operated on because of a rapidly worsening of his ptosis. Only partial removal of the tumor was possible. A hypermetropic astigmatism of the right eye was caused by the condition of the upper lid, with secondary amblyopia. This finding suggests that in cases of congenital ptosis the presence of a lid tumor must be suspected. Such a tumor causes ptosis and this can lead to refraction error and amblyopia.     

Bilateral orbital isolated (solitary) neurofibroma in the absence of neurofibromatosis – A case report

Isolated neurofibroma is a slowly progressive tumor rarely found in the orbit accounting for less than 1% of the space occupying lesions of the orbit. It usually presents in the 2nd to 5th decades of life with proptosis, swelling, visual changes, ptosis, diplopia or pain. Almost all cases reported are unilateral. We report a 23-year-old female with no systemic features or family history of neurofibromatosis who presented with right upper eyelid swelling. Radiological studies revealed bilateral identical masses in the superior orbits. The patient underwent surgical excision of the lesion on the right side and it was proved to be neurofibroma. She did not have a recurrence with a follow up period of 2?years but developed sensory deficit. This is the fifth reported case of bilateral isolated neurofibroma.     

A corneal diffuse neurofibroma as a manifestation of von recklinghausen disease

PURPOSE: To report a case of a primary corneal diffuse neurofibroma in a patient with von Recklinghausen disease (NF-1). METHODS: Case report. A physical examination and histopathology were performed. The immunohistochemical studies were performed using an avidin-biotin-peroxidase complex technique on formalin-fixed and paraffin-embedded tissue. Histologic sections from corneal tissue were incubated with primary antibodies against vimentin and S-100 protein. A complementary ultrastructural study of the same formalin-fixed and paraffin-embedded tissue was made. RESULTS: The ophthalmologic examination revealed a yellowish-white elevated mass that involved the supratemporal cornea but not the limbus. Histologic study showed a tumor of the peripheral nerve sheath, a diffuse neurofibroma in the corneal stroma, and proliferation of spindle cells with markedly elongated nuclei. Cells comprising the tumor reacted with vimentin and S-100 protein, and the ultrastructural studies revealed myelinated nerve fibers confirming the diagnosis. CONCLUSION: The development of a primary diffuse neurofibroma in the cornea of patients with von Recklinghausen disease is possible. The present case supports the statement that neurofibromas arising from the peripheral nerve sheath may involve any part of the body.     

Surgical debulking of eyelid and anterior orbital plexiform neurofibromas by means of the carbon dioxide laser

PURPOSE: To present the carbon dioxide laser as an effective tool for surgical debulking of eyelid and orbital neurofibromas. METHOD: Two patients with neurofibromatosis underwent surgical debulking of their eyelid and orbital plexiform neurofibromas by means of the carbon dioxide laser. RESULTS: Acceptable cosmetic results were obtained with the removal of eyelid and orbital neurofibromas with improved hemostasis and minimal destruction of surrounding tissue when compared with conventional methods of removal. CONCLUSIONS: The carbon dioxide laser may allow significant improvement in the removal of plexiform neurofibromas.     

Chalazion as a cause of decreased vision after LASIK.

PURPOSE: To describe a post-LASIK patient with decreased vision and a chalazion of the upper eyelid. METHODS: A 46-year-old man was referred with decreased vision of 1 month's duration. He underwent bilateral uncomplicated LASIK for myopic astigmatism 1.5 years and bilateral enhancements 1 year previously. He had 20/20 uncorrected vision in both eyes after those procedures. He developed a chalazion of his right central upper eyelid 1 month prior with simultaneous blurring of vision. On our examination, his uncorrected visual acuity was 20/60 in the right eye. Complete eye examination including refraction, computerized corneal topography, and pachymetry were done. RESULTS: With a manifest refraction of +1.25 +0.50x80, the visual acuity in the right eye improved to 20/20. Computerized corneal topography revealed circular central corneal flattening in both eyes, much greater in the right eye than the left eye. The location of the chalazion with the right eye closed corresponded to the area of central corneal flattening. The central power from the corneal topography was 39.4 D OD and 40.8 D OS. He was diagnosed as having acquired hyperopia associated with chalazion-induced central corneal flattening of the right eye. Chalazion-induced hyperopic change on topography disappeared, and his uncorrected vision improved to 20/20 in the left eye as the chalazion resolved completely. CONCLUSION: In post-LASIK patients with decreased vision and topography changes late after surgery, periocular masses should be considered in the differential diagnosis. Decreased corneal thickness and rigidity after LASIK might be a predisposing factor to external compression-induced curvature changes.     

Atypical presentation of a periocular neurofibroma

Neurofibromas of the eyelid are a well-recognized manifestation of neurofibromatosis. Several different presentations have been described. The authors present a case of a 52-year-old man with an unusual eyelid neurofibroma that presented as sudden vision loss from obstruction secondary to prolapse of the palpebral conjunctiva.     

Neurofibromatosis and congenital glaucoma. A case report.

Congenital glaucoma may be associated with other developmental disorders and particularly with neurofibromatosis. A baby girl, with unilateral buphthalmus, thickening of the upper eye lid on the same side and café au lait spots on her body lost this eye in spite of repeated interventions. Histological examination revealed the presence of neurofibromatic and congenital glaucoma changes in the eye. There was no neurofibroma in the angle area which could have caused glaucoma. Glaucoma was due to failure of normal development of the angle.     

神经纤维瘤病

分析了神经纤维瘤病眼部病变患者33例。其中眼眶骨病变者27例;眼睑丛状神经纤维瘤者31例,虹膜结节者20例;眼球突出者23例;合并眶内脑膜脑膨出者9例;合并青光眼者4例;33例患者均有皮肤色素斑和多发性结节。11例患者有家族遗传史。对神经纤维瘤病的发病机理做了较详细的讨论。     

Orbital neurofibromatosis presenting as pulsating enophthalmos

The authors describe a case of a 20-year-old-girl with neurofibromatosis presenting as apparent enophthalmos. Hertel exophthalmometry showed 2 mm enophthalmos on the left side. The upper sulcus was deeper on the left than on the right side and the lower eyelid laterally was not in contact with the globe. The computed tomography (CT) scan, however, demonstrated forward displacement of the left globe with herniation of the brain tissue through a defect in the sphenoid bone. A review of the literature and an explanation of this simulated phenomenon are given.     

Management of congenital glaucoma in neurofibromatosis type 1: a report of two cases

The most frequent ophthalmic lesions associated to neurofibromatosis type 1 include iris Lisch nodules, optic nerve gliomas, and neurofibromas located on the eyelid, conjunctiva or orbit. Glaucoma is much less frequent, and it may be difficult to diagnose and treat. We present two patients with neurofibromatosis type 1 and associated congenital glaucoma. In case 1, the glaucoma was present at birth, and was the first symptom of the disease. It was surgically treated by means of an Ahmed glaucoma valve implantation, with good intraocular pressure (IOP) control after 13 months of follow-up. In case 2, the glaucoma appeared at 5 months old, and a trabeculectomy was initially performed; it failed 2 years later and an Ahmed glaucoma valve was then implanted, with adequate IOP control after 7 years of follow-up. Both children were males, and in both cases there were orbital neurofibromas and a dysplasia of the greater wing of the sphenoid of the same side. In case 2, orbital enlargement surgery was also performed at 4 years old. Congenital glaucoma management in the context of neurofibromatosis is very complex due to the frequent association of orbital and eyelid tumors and bone dysplasia, and its prognosis is usually poor. We present two cases in which good control of IOP has been achieved with Ahmed glaucoma valve implantation after 13 months and 7 years of follow-up.     

Postoperative visual improvement in spheno-orbital meningioma: a case report

A 59-year-old woman complained of right eye proptosis and visual impairment (20/100) lasting 2 months. CT and MRI scans disclosed a right spheno-orbital meningioma ranging over the optic foramen and cavernous sinus. Histopathology revealed transitional meningioma. Visual acuity (20/25), visual field, and proptosis were improved after surgery at the time of the ophthalmologic examination 6 months later. We present an additional case and review the available literature concerning postoperative visual outcome.     

Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic

Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral glaucoma (buphthalmos), ipsilateral facial hemihypertrophy, and eyelid plexiform neurofibroma: completing the triad of François syndrome, a rare NF1 variant. Two presented with leukocoria and were referred to as retinoblastoma suspects. Histopathology showed ganglioneuroma, a benign choroidal tumor, associated with NF-1, which does not need treatment. Knowledge of this rare condition avoids misdiagnosis of retinoblastoma, prevents aggressive management, and the associated psychological impact.     

Peripapillary staphyloma associated with orofacial capillary hemangioma

Peripapillary staphyloma is usually unassociated with other ocular and systemic anomalies. A 5-year-old girl presented with peripapillary staphyloma in association with extensive ipsilateral orofacial capillary hemangioma involving the right forehead, right upper and lower eyelids, the right cheek, and the hard palate. She had received oral corticosteroids to induce regression of the hemangiomas at six months of age. On our examination, her visual acuity was counting fingers at two meters right eye and 20/20 left eye. She had mild right upper eyelid ptosis and right exotropia. Imaging studies did not show any central nervous system abnormality. There has been no progression or contraction in the staphylomatous lesion during 24 months of follow-up. Like the morning glory disk anomaly, peripapillary staphyloma may be associated with facial capillary hemangioma.     

von Recklinghausen Neurofibromatosis: II. Incidence of Optic Gliomata

The association of optic glioma with von Recklinghausen neurofibromatosis (NF) is well established. However, the incidence of these tumors in a large population of NF patients, prospectively evaluated with modern radiologic techniques, has not been established. We investigated the ophthalmic and intracranial features of NF in 217 patients aged 4 weeks to 69 years, in whom the diagnosis was based on stringent criteria. Tumors at various locations along the anterior visual pathway occurred in 15% of patients and were occasionally bilateral. The mean age of patients with chiasmal tumors was approximately 15 years less than patients with tumors of the optic nerve only. Two-thirds (67%) of all tumors were neither suspected historically nor detected by ophthalmologic examination. Neither the ophthalmoscopic absence of optic atrophy nor the normal results of roentgenograms of the optic foramina were reliable predictors of tumors detected by CT scan. The presence of optic glioma is not correlated to other ocular, skeletal, neurologic, or anamnestic risk factors.     

Merkel cell carcinoma of the eyelid and periocular tissues.

Five patients had eyelid and periocular Merkel cell carcinoma. The tumor was located on the left lower eyelid in two patients, the left upper eyelid in one patient, the right upper eyelid in one patient, and was metastatic to the right outer canthus in one patient. The mean duration of symptoms was approximately four months. The diagnosis of Merkel cell carcinoma was not suspected clinically in any of the four primary eyelid cases, but was only established on histopathologic examination of biopsy specimens. Light microscopy disclosed carcinoma with small primitive cells in all five tumor biopsy specimens. Immunohistochemical studies showed neuron-specific enolase and keratin and transmission electron microscopy demonstrated neurosecretory granules typical for Merkel cell carcinoma. All five patients in this study were treated with wide surgical excision of the eyelid tumors with intraoperative frozen-section monitoring of the margins of resection. The left lower eyelid Merkel cell carcinoma spread to the preauricular lymph node in one patient. This patient subsequently died of metastatic Merkel cell carcinoma. One patient with metastatic right outer canthus Merkel cell carcinoma received radiotherapy (6,550 cGy). Eyelid Merkel cell carcinoma has the potential for recurrence and metastatic spread. We recommend lifetime follow-up for patients treated for eyelid Merkel cell carcinoma.     

霍纳综合征:颈椎前路椎间盘切除术的罕见持续并发症

目的:提供颈部手术后霍纳综合征1例。方法:包括药物学测试,以明确诊断。结果:患者出现右上睑1.5mm上睑下垂,右瞳孔缩小。扩张的瞳孔表现为暗适应滞后。右脸存在有面部无汗症。应用5g/L阿可乐宁后,右瞳孔扩张,上眼睑下垂改善。结论:交感神经的去神经眼睛(霍纳综合征)通常呈现为一个上睑下垂,瞳孔缩小和面部无汗症。我们提供的1例颈椎前路椎间盘切除后霍纳综合征病例是一个持续性霍纳综合征的罕见原因。