Neuroophthalmological manifestations of congenital aqueductal stenosis.

OBJECTIVE: Congenital aqueductal stenosis (CAS) is a common etiology of hydrocephalus that occurs in a subset of infants and may be linked to an increased incidence of ophthalmological abnormalities and delayed developmental milestones. Although hydrocephalus is common and widely studied, sparse literature exists on patients with isolated (no identifiable genetic link) CAS along with analysis of ophthalmological manifestations. In this study, the authors sought to describe the ophthalmological abnormalities and delayed developmental milestones of patients with isolated CAS. METHODS: Data of patients with CAS were prospectively entered and monitored in a surgical database maintained by the Department of Neurological Surgery at Children's Hospital of Pittsburgh from January 2005 to October 2016. Patients with a family history of congenital hydrocephalus, positive testing for genetic forms of aqueductal stenosis, other congenital abnormalities suggesting an underlying genetic syndrome, and stenosis/obstruction due to secondary causes were excluded from this study. Prenatal and perinatal history, CSF diversion history, and a variety of outcomes, including ophthalmological deficits and developmental milestones, were collected and analyzed. RESULTS: A total of 41 patients with isolated CAS were identified, with a mean follow-up duration of 6 years. Among that cohort, 26 patients (63.4%) developed neuroophthalmological complications, which were further stratified. Fourteen patients (34.1%) developed strabismus and 11 (26.8%) developed astigmatism, and 1 patient (2.4%) with papilledema was recorded. Among patients with ophthalmological abnormalities, 76.9% had delayed developmental milestones (p = 0.045). CONCLUSIONS: Patients with CAS were found to have increased risk of ophthalmological abnormalities requiring correction, along with an increased risk of delayed developmental milestones. Importantly, there was a significant correlation between the development of ophthalmological abnormalities and delayed developmental milestones that was independent of CSF diversion history. Larger patient cohort studies are required to explore whether earlier development of hydrocephalus, as is the case in CAS, causes elevated rates of neurological and ophthalmological complications, and if earlier CSF diversion correlates with improved outcomes.

Visual task performance in the blind with the BrainPort V100 Vision Aid.

INTRODUCTION: The BrainPort® V100 Vision Aid is a non-invasive assistive device for the blind based on sensory substitution. The device translates camera images into electrotactile stimuli delivered to the tongue. The BrainPort has recently received the CE mark and FDA approval and it is currently marketed to augment, rather than replace, the traditional assistive technologies such as the white cane or guide dog. Areas covered: In this work, we will review the functional studies performed to date with the BrainPort and we will highlight the critical factors that determine device performance, including the technology behind the BrainPort, the impediments to assessing device performance, and the impact of device training and rehabilitation. Expert commentary: The BrainPort enables blind people to perceive light, identify simple objects, recognize short words, localize simple objects, and detect motion and orientation of objects. To achieve this, proper rehabilitation and training regimes are crucial.

Lymphoma of the orbit masquerading as Tolosa-Hunt syndrome.

BACKGROUND: Tolosa-Hunt syndrome is a rare clinical syndrome characterized by painful ophthalmoplegia and ipsilateral cranial neuropathies. It is caused by an inflammatory process of unknown etiology. CASE PRESENTATION: We present a case of a 77-year-old white man with history of Waldenstrom's macroglobulinemia transforming to large B-cell lymphoma who presented to a community physician complaining of 4 months of isolated right retro-orbital pain and later with diplopia, ptosis, 6th nerve and pupil-sparing partial 3rd nerve palsies as well as progressive neurological findings. His clinical course was complicated by debilitating neurological symptoms and multiple hospitalizations leading to a delay in diagnosis caused by incomplete initial workup. CONCLUSION: This case is a reminder that lymphoproliferative disorders often mimic other neurologic disorders and that Tolosa-Hunt is a rare diagnosis that must be considered a diagnosis of exclusion.

Treatment of pediatric optic neuritis.

OPINION STATEMENT: Pediatric optic neuritis is a rare disorder causing a subacute loss of vision (often bilateral) in children, often of a severe degree. Common clinical findings include dense visual field loss, afferent pupillary defect (APD) in unilateral cases, and papillitis that is often bilateral. Contrary to optic neuritis in the adult population, the differential diagnosis for this disorder in pediatric patients is quite extensive, so neuroimaging and serologic evaluation are necessary to exclude an infectious or neoplastic process. Pediatric optic neuritis may occur as a clinically isolated syndrome, or in association with diffuse neurologic dysfunction, such as acute disseminated encephalomyelitis (ADEM). Optic neuritis may also be the first episode heralding the onset of pediatric multiple sclerosis or neuromyelitis optica (NMO or Devic's disease). Therefore, formal neurologic evaluation and follow-up are indicated. Although the management of this disorder in adults is well described, there is a paucity of evidence-based, prospective clinical data on its management and treatment in a pediatric population. The current treatment of pediatric optic neuritis consists of 3 to 5 days of intravenous methylprednisolone (4-30 mg/kg per day), followed by a prolonged oral corticosteroid taper. A prolonged course of oral steroid (2-4 weeks) is recommended to avoid recurrence, which is common in this age group. Some controversy persists concerning the exposure of children to high-dose parenteral corticosteroids to treat an entity that is usually self-limited, but given the severity of vision loss in one or both eyes in this population, this intervention is standard in neuro-ophthalmologic practice.