An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.

Crouzon Syndrome is a genetic craniosynostosis disorder associated with a high risk of ophthalmologic sequelae secondary to structural causes. However, ophthalmologic disorders due to intrinsic nerve aberrations in Crouzon Syndrome have not been described. Optic pathway gliomas (OPGs) are low grade gliomas that are intrinsic to the visual pathway, frequently associated with Neurofibromatosis type 1 (NF-1). OPGs involving both optic nerves without affecting the optic chiasm are rarely seen outside of NF-1. We report an unusual case of bilateral optic nerve glioma without chiasmatic involvement in a 17-month-old male patient with Crouzon Syndrome without any clinical or genetic findings of NF-1. This case suggests that close ophthalmologic follow up and orbital MRIs may benefit patients with Crouzon Syndrome.

Precocious and accelerated puberty in children with neurofibromatosis type 1: results from a close follow-up of a cohort of 45 patients.

PURPOSE: Central precocious puberty (CPP) in neurofibromatosis type 1 (NF1) occurs mainly in association with optic pathway glioma (OPG), but it can also develop in the absence of OPG. The aim of this study was to analyze the prevalence of puberty disorders in children with NF1 and its association with OPG and its location. METHODS: A retrospective study of 45 children with NF1 (68.9% boys) followed at our center between 2008 and 2020 was conducted. A cerebral MRI scan was performed in all children. We analyzed auxological, laboratory, and imaging data of children with CPP or accelerated puberty (AP). Treatments used for CPP/AP and their effect on height were also evaluated. RESULTS: The prevalence of puberty disorders in our cohort was 17.8% (male to female ratio of 7:1). CPP and AP were diagnosed in 8/45 (17.8%) NF1 children. Among children with puberty disorders, 5/8 (62.5%) had an OPG with chiasm involvement, 1/8 (12.5%) had an isolated optic nerve tumor, and 2/8 (25%) did not have any evidence of OPG on MRI. Fisher's exact test showed an association between CPP/AP and chiasm OPG (p = 0.025). Treatment with triptorrelin was initiated in 5/8 children, of whom four attained final predicted height. CONCLUSION: Our study confirms the higher prevalence of CPP/AP in NF1 patients, as well as an association between chiasm OPG and puberty disorders. However, CPP/AP also occurred in the absence of OPG with an incidence of 9.1%. Comprehensive evaluation of every child with NF1 regardless of the presence of OPG is therefore essential.

Visual Outcomes After Treatment for Sporadic Optic Pathway Gliomas in Pediatric Patients: A Systematic Review.

OBJECTIVE: Optic pathway gliomas (OPGs) typically occur in the first decade of life and 40%-50% are not associated with neurofibromatosis 1 (NF1) (sporadic). Management strategies are often patient specific because of the variable and unpredictable course. No study has summarized the effect of treatment strategies on visual outcomes in the subset of pediatric patients with sporadic OPG. METHODS: We conducted a systematic review to determine the nature of visual outcomes in pediatric patients with sporadic, non-NF1-associated OPG using the PubMed, Embase, Scopus, Cochrane, and CINAHL Plus databases. Visual outcomes were categorized as improved, unchanged, or deteriorated. RESULTS: Of 1316 results, 31 articles were included. Treatment indications are unknown with full clinical detail. A total of 45.2% (14/31) reported deteriorated outcomes after treatment, 35.5% (11/31) no change, and 19.4% (6/31) improvement. Of radiotherapy studies, 50.0% (4/8) found no change, 37.5% (3/8) deterioration, and 12.5% (1/8) improvement. Of chemotherapy studies, 35.7% (5/14) each showed improvement and deterioration, whereas 28.6% (4/14) showed no change. Of surgical studies, 62.5% (5/8) indicated deterioration, and 37/5% (3/8) indicated no change. The singular study examining observation reported deterioration in visual outcomes. Factors associated with poor visual outcomes included signs and symptoms of visual decline at presentation, involvement of the intraorbital optic nerve, and intracranial hypertension requiring surgery. Causality cannot be determined from systematic review. CONCLUSIONS: Most studies showed that vision in pediatric patients with sporadic OPG is stable to poor after observation, chemotherapy, radiotherapy, or surgery. Chemotherapy may be associated with most favorable visual outcomes.

Cavernous Malformation of the Optic Nerve and Chiasm: Prompt Suspicion and Surgery Matter.

BACKGROUND: Cavernous malformations (CMs) of the optic nerve and chiasm are extremely rare, accounting for less than 1% of all intracranial CMs. Acute, subacute, or progressive visual loss from CM may occur with or without hemorrhage. Prompt surgical excision of the CM offers the best hope to improve or stabilize vision. Given its rarity, optic nerve and chiasm CMs may not be readily suspected. We provide 3 cases of optic nerve and chiasm CM, highlighting key neuroimaging features and the importance of expedited intervention. METHODS: Case records of the neuro-ophthalmology clinics of the Bascom Palmer Eye Institute and the University of Colorado, and literature review of reported cases of optic CM. RESULTS: A 49-year-old woman reported acute progressive painless vision loss in the right eye. MRI showed a suprasellar mass with heterogeneity in signal involving the right prechiasmatic optic nerve. Surgical excision of the CM 5 days after onset of visual loss improved vision from 20/300 to 20/30. A 29-year-old woman with acute painless blurred vision in the right eye had anterior chiasmal junctional visual field defects corresponding to a heterogeneously minimally enhancing mass with blood products enlarging the optic chiasm and proximal right optic nerve. Surgical excision of the CM 8 weeks after onset of visual loss improved vision from 20/40 to 20/15 with improved visual fields. A 33-year-old woman with a history of familial multiple CMs, diagnosed at age 18, reported new-onset severe headache followed by blurred vision. MRI showed a hemorrhagic lesion of the optic chiasm and right optic tract. She was 20/20 in each eye with a reported left superior homonymous hemianopia. No intervention was recommended. Vision of the right eye worsened to 20/400 2 months later. The patient was followed over 13 years, and the MRI and visual function remained unchanged. Literature review yielded 87 optic CM cases occurring across gender and nearly all ages with visual loss and headache as the most common presenting symptoms. Optic chiasm is the most common site of involvement (79%). Nearly 95% of reported CM cases were treated with surgery with 81% with improved vision and 1% with worsened vision. CONCLUSION: MRI features are critical to the diagnosis of optic nerve and chiasm CM and may mimic other lesions. A high index of suspicion by the neuro-ophthalmologist and neuroradiologist leads to early recognition and intervention. Given optic CM displaces and does not infiltrate neural tissue, expedited surgical resection by a neurosurgeon after consideration of other diagnostic possibilities improves visual function in most cases.

Bilateral Congenital Ptosis Associated with Optic Disc Melanocytoma.

We report a rare clinical association of optic disc melanocytoma (ODM) occurring with bilateral congenital ptosis that has not been previously reported. A 28-year-old male patient presented with bilateral congenital ptosis. On examination, his vision was 20/20 in each eye, and dilated fundus examination indicated a pigmented lesion over the left inferior temporal aspect of the optic disc that was consistent with an optic nerve melanocytoma. B-scan ultrasonography indicated a calcified elevated optic nerve head. Bilateral frontalis sling procedures were performed for congenital ptosis with satisfactory results at 1 year postoperatively. There was no progression of the lesion in the left eye. Knowing the key ophthalmoscopic features of an ODM can aid in diagnosing this lesion; ophthalmologists should be familiar with this lesion in addition to the rare association of ptosis. Affected patients should be periodically assessed.

Opto-chiasmatic apoplexy as a compartment syndrome? Anatomical and surgical considerations on two bleeding cavernous malformations.

OBJECTIVE: Opto-chiasmatic (OC) cavernous malformations are sporadic lesions that are often misdiagnosed clinically and radiologically. Presenting symptoms range from incidental findings to the more frequent and dramatic "chiasmal apoplexy." The present study aims to evaluate the potential role of arachnoidal membranes of the basal cisterns in the onset of OC apoplexy. A possible mechanism resembling a compartment syndrome is discussed through the description of two cases of bleeding cavernomas. METHODS: We describe clinical, radiological, intraoperative findings in two cases of young patients presenting with OC apoplexy from bleeding cavernoma. The first was a 38-year-old man diagnosed with optic neuritis at the first episode of visual acuity deterioration. The second patient was a 22 -year-old woman who suffered two OC apoplexy episodes from a recurrence, which also presented with bleeding. RESULTS: Both patients were operated on via pterional craniotomy and presented a postoperative improvement of visual symptoms. The second patient experienced deterioration 30 months after surgical resection due to rebleeding from a recurrence and required a second operation. Follow-up revealed a good recovery of visual disturbances; MRI at 6 and 3 years showed in both patients an apparent complete removal of the cavernous malformations. CONCLUSION: The cisternal environment where OC cavernous malformations develop and the paradigm of a compartment syndrome could explain the clinical presentation variability. This very rare subset of cavernomas would benefit from a classification system using ad hoc neuroimaging protocols and consistent indications.

Cavernous malformation of the intracranial optic nerve with operative video and review of the literature.

Optic pathway cavernous malformations represent less than 1% of all central nervous system cavernomas. They can lead to visual loss with indeterminate speed, and therefore, the timing of intervention is controversial. We present a patient with an optic nerve cavernoma, which was discovered incidentally 3 years before the onset of visual symptoms. The evolution of her symptoms, visual function and radiographic findings are reported in detail. The cavernoma was eventually removed via a transciliary orbitocranial keyhole approach with the goal to protect the optic chiasm from progressive involvement. The function in the affected optic nerve was not salvageable. This is the second reported case of a cavernoma selectively involving the intracranial portion of the optic nerve. The debate on the timing of intervention is highlighted with reference to the natural history of these rare lesions.

Neurofibromatosis 1-associated optic pathway gliomas.

BACKGROUND: Optic Pathway Gliomas (OPG) are the most common brain tumor in Neurofibromatosis 1 patients (NF1). They are found along the optic pathway and may involve the optic nerves, chiasm, retro-chiasmatic structures, and the optic radiations. NF1 associate OPG (NF1-OPG) have variable presentation, disease course and response to treatment. The optimal management is patient-specific and should be tailored by a multidisciplinary team. Age, sex, histology, and molecular markers may be important factors in the individualized decision-making process. Chemotherapy is the first-line treatment in cases of progressive tumors, and visual preservation is the main goal of treatment. PURPOSE: In this paper we will review the disease, practical management, and recent advances of NF1-OPG.

Progressive sixth nerve palsy secondary to intracavernous arachnoid cyst and complicated by contralateral optic nerve sheath meningioma.

INTRODUCTION: Optic nerve sheath meningiomas and intracavernous arachnoid cysts are both fairly rare conditions, and to the best of our knowledge, have not been previously reported to co-occur in the same patient. Both can cause diplopia, but only ONSMs have been documented to demonstrate progressive worsening of ocular motility. CASE REPORT: A 67-year-old woman with blur and diplopia demonstrated a right optic neuropathy and limited ductions bilaterally. Neuroimaging revealed a right optic nerve sheath meningioma and left intracavernous arachnoid cyst. She was conservatively managed with neurosurgical surveillance for 1.5 years, until her diplopia worsened. Ocular motility re-evaluation demonstrated a worsening left abduction deficit, suggesting interval change of the intracavernous cyst, rather than the meningioma. CONCLUSION: There are only a few reported cases of cranial nerve VI palsy secondary to a cavernous sinus arachnoid cyst. However, this is the first reported case in a patient with a concurrent optic nerve sheath meningioma, and the first case demonstrating progressive worsening of a sixth cranial nerve palsy from an intracavernous arachnoid cyst. Determining which comorbidity caused worsening of symptoms played a critical role in the management of this patient.

Vision Loss from Metastatic Colon Cancer to the Planum Sphenoidale and Optic Nerves.

An 80-year-old man was seen in urgent neuro-ophthalmology consultation for bilateral vision loss. He had a past medical history of hypertension and metastatic stage IV colorectal adenocarcinoma. Four months prior to presentation, he developed gradual onset, painless blurred vision in his right eye. He underwent cataract surgery in that eye, but his vision continued to decline to the point of no light perception. He developed new onset, painless, blurred vision in his left eye 3 weeks prior to presentation and woke up with no light perception in his left eye one day prior to presentation.

Rosette-forming Glioneuronal Tumor in the Optic Pathway of a Child.

Rosette-forming glioneuronal tumor is a rare World Health Organization grade I neoplasm, primarily involving the posterior fossa. Most cases have been reported in young adults. Although maximal surgical resection is advocated, a precise treatment modality is yet to be established. We describe an unusual presentation of rosette-forming glioneuronal tumor occurring in the optic pathway in a child. As the site of the tumor was not amenable to resection, he underwent radiotherapy and is currently well on follow-up.

Laparoscopy-assisted placement of a ventriculobiliary shunt: a technical note.

PURPOSE: Hydrocephalus is a common condition in pediatric neurosurgeon's clinical practice. Peritoneal and atrial shunting is the treatment of choice in the immense majority of patients. Sometimes, there are complex cases that may need innovative solutions in order to implant the distal catheter of the shunt: in these situations, the gallbladder is a well-described option and it can be safely used. METHODS: We report the case of a 4-month-old baby with a wide optic-chiasmal hypothalamic glioma generating hydrocephalus with high protein values in CSF. Ventriculobiliary shunting was decided, and the distal catheter was directed by the assistance of laparoscopic surgery. RESULTS: The outcome was satisfactory. CONCLUSIONS: As far as we know, laparoscopic placement of a distal catheter in the gallbladder has not been described in the literature; herein, we describe the tenets and the technical tips of this approach.

Optic Nerve Hemangioblastoma: Review.

BACKGROUND: Hemangioblastomas of the optic nerve are very rare tumors. They occur in association with Von Hippel-Lindau (VHL) syndrome; however, sporadic occurrences have been reported. We describe here a case of optic nerve hemangioblastoma in the absence of VHL and review the pertinent literature. CASE DESCRIPTION: A 33-year-old woman presented with gradually progressive vision loss in the right eye. On examination, the visual acuity on the right was hand movement close to face in all quadrants. Color discrimination was impaired. Fundoscopy revealed optic atrophy and no other retinal pathology. There was relative afferent pupillary defect in the right eye. No neurocutaneous markers were found. Imaging revealed lesion isointense on T1, hyperintense on T2/fluid-attenuated inversion recovery, and showing relatively homogenous enhancement on postcontrast study. Multiple flow voids were seen in the intracranial part of the lesion. The proximal part of the intraorbital right optic nerve was enlarged and tortuous with distended optic nerve sheath. A right single-piece fronto-orbital craniotomy was done. A reddish lesion seen involving the right optic nerve just proximal to the chiasm with multiple vessels and a distinct feeding vessel was seen supplying the tumor. The lesion was excised and the optic nerve was sacrificed approximately 1 cm proximal to the chiasm. The postoperative course was uneventful. CONCLUSIONS: Conclusions: Optic nerve hemangioblastoma is a rare occurrence and a high level of suspicion is required preoperatively in the absence of VHL syndrome.

Visual Function, Brain Imaging, and Physiological Factors in Children With Asymmetric Nystagmus due to Chiasmal Gliomas.

PURPOSE: Asymmetric nystagmus can be an important presenting sign of optic pathway gliomas in young children. We investigated the causes of asymmetric nystagmus in children with chiasmal or suprasellar optic pathway gliomas compared with children with similar optic pathway gliomas and stable gaze. METHODS: Longitudinal magnetic resonance imaging before and after treatment, age-corrected visual acuity, ocular examinations, video-oculography, visual evoked potentials, and retinal nerve fiber layer thickness were retrospectively reviewed. RESULTS: Twenty-two children were included (eight with asymmetric nystagmus and 14 with stable gaze). Subjects with asymmetric nystagmus presented at a younger age than those with stable gaze (2.0 vs 5.6 years; P < 0.001). None had neurofibromatosis type 1. Visual acuity, visual evoked potentials, nerve fiber layer, severity of optic atrophy, hydrocephalus, tumor volume, and tumor locations did not differ between those with asymmetric nystagmus and stable gaze. Asymmetric nystagmus resolved shortly after treatment, even though the average visual acuity did not improve. Changes in visual acuity or tumor volume were not different between those with asymmetric nystagmus and stable gaze after treatment. Eye movement recording from two subjects with asymmetric nystagmus revealed an asymmetric pendular-oscillation with vertical components. One subject with stable gaze developed asymmetric nystagmus with tumor growth into the rostral midbrain and associated unilateral vision loss. Another subject with tumor growth into the rostral midbrain acquired vertical saccade dysmetria. CONCLUSION: We hypothesize that asymmetric nystagmus associated with optic pathway gliomas is caused by subclinical abnormalities to retinal axons that connect to gaze holding centers in the rostral midbrain. Direct compression of the rostral midbrain was a possible factor to asymmetric nystagmus in some subjects. However, many subjects with stable gaze also show midbrain compression.