Septo-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils.
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ABSTRACT:
SUBMITTER: Jabeen M
PROVIDER: S-EPMC4769091 | biostudies-other | 2016 Mar
REPOSITORIES: biostudies-other
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Project description:IntroductionTuberculosis (TB) is a major global cause of morbidity and mortality. TB meningitis (TBM) is an implication of systemic dissemination of a primary TB infection that indicates a poorer disease prognosis with various long-term neurological sequelae. Consequently, it is crucial to understand the different clinical presentations and manifestations of such condition. In TBM, vision loss, which is one of the most devastating complications, may result from optic nerve inflammation and atrophy. Although unilateral optic neuritis as a primary presenting symptom of TBM has been broadly reported in the literature, there is a paucity of information related to several other rare neuro-ophthalmic features, such as bilateral optic nerve involvement in TBM.Case presentationWe herein present a case of a 37-year-old Indian male patient presenting with unilateral vision loss that subsequently progressed to bilateral vision loss and was hence diagnosed with bilateral optic neuritis. Additional thorough investigation yielded a diagnosis of TBM with underlying tuberculomas. The patient's condition improved afterward with anti-tuberculous therapy and steroids with follow-up magnetic resonance imaging indicating radiological resolution as well.ConclusionThe differential diagnosis of bilateral optic neuritis is broad but rare, yet an overlooked one would be central nervous system TB in the form of meningitis or tuberculoma. Hence, it is important to identify bilateral optic neuritis as a possible rare presenting symptom of an underlying central nervous system TB infection which could lead to a faster disease diagnosis and treatment to prevent its devastating complications.
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Project description:ObjectiveEffect of bilateral, optic neuropathy on the function of retinal pigment epithelium has not been investigated extensively to date. This study aimed to determine the effect of bilateral, optic neuropathy on light peak:dark trough ratio, light peak and dark trough values of electro-oculography. Thirty-seven patients with a clinical diagnosis of bilateral optic neuropathy and 40 control subjects were recruited in this observational, cross-sectional study, carried out at the Neurophysiology unit, Teaching Hospital, Peradeniya, Sri Lanka. Pattern reversal visual evoked potentials, pattern electroretinography and electro-oculography were recorded in all of them.ResultsTwenty-four patients (64.9%) had reduced light peak:dark trough ratio values. The median light peak:dark trough ratio ± inter quartile range of the patient group (1.50 ± 0.4) was significantly lower than that of the controls (1.80 ± 0.2), (p < 0.001). Median dark trough value was significantly higher in patients compared to the control value. These changes may be due to higher conductance of ion channels in the retinal pigment epithelium, sub retinal space creation, changes in choroidal circulation or secondary to photoreceptor abnormalities in the macular region. These results indicate that retinal pigment epithelium might be affected in bilateral optic neuropathy.
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Project description:During embryogenesis, optic vesicles develop from the diencephalon via a complex process of organogenesis. Using iPSC-derived human brain organoids, we attempted to simplify the complexities and demonstrate the formation of forebrain-associated bilateral optic vesicles, cellular diversity, and functionality. Around day thirty, brain organoids could assemble optic vesicles, which progressively develop as visible structures within sixty days. These optic vesicle-containing brain organoids (OVB-Organoids) constitute a developing optic vesicle’s cellular components, including the primitive cornea and lens-like cells, developing photoreceptors, retinal pigment epithelia, axon-like projections, and electrically active neuronal networks. Besides, OVB-Organoids also display synapsin-1, CTIP-positive, myelinated cortical neurons, and microglia. Interestingly, various light intensities could trigger photoreceptor activity of OVB-Organoids, and light sensitivities could be reset after a transient photo bleach blinding. Thus, brain organoids have the intrinsic ability to self-organize forebrain-associated primitive sensory structures in a topographically restricted manner and can allow conducting interorgan interaction studies within a single organoid.
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Project description:Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of several transcription factors has been identified in SOD cohorts, most cases lack a genetic diagnosis, with multifactorial risk factors being thought to play a role. Exome sequencing in a cohort of families with a clinical diagnosis of SOD identified a genetic diagnosis in 3/6 families, de novo variants in SOX2, SHH, and ARID1A, and explored variants of uncertain significance in the remaining three. The outcome of this study suggests that investigation for a genetic etiology is warranted in individuals with SOD, particularly in the presence of additional syndromic anomalies and when born to older, multigravida mothers. The identification of causative variants in SHH and ARID1A further expands the phenotypic spectra associated with these genes and reveals novel pathways to explore in septo-optic dysplasia.
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Project description:Background and purposeMidbrain-hindbrain involvement in septo-optic dysplasia has not been well described, despite reported mutations of genes regulating brain stem patterning. We aimed to describe midbrain-hindbrain involvement in patients with septo-optic dysplasia and to identify possible clinical-neuroimaging correlations.Materials and methodsUsing MR imaging, we categorized 38 patients (21 males) based on the presence (group A, 21 patients) or absence (group B, 17 patients) of visible brain stem anomalies. We measured height and anteroposterior diameter of midbrain, pons, and medulla, anteroposterior midbrain/pons diameter (M/P ratio), vermian height, and tegmento-vermian angle, and compared the results with 114 healthy age-matched controls. Furthermore, patients were subdivided based on the type of midline anomalies. The associations between clinical and neuroradiological features were investigated. Post hoc tests were corrected according to Bonferroni adjustment (pB).ResultsPatients with brain stem abnormalities had smaller anteroposterior pons diameter than controls (pB < .0001) and group B (pB = .012), higher M/P ratio than controls (pB < .0001) and group B (pB < .0001), and smaller anteroposterior medulla diameter (pB = .001), pontine height (pB = .00072), and vermian height (pB = .0009) than controls. Six of 21 patients in group A had thickened quadrigeminal plate, aqueductal stenosis, and hydrocephalus; 3 also had agenesis of the epithalamus. One patient had a short midbrain with long pons and large superior vermis. There was a statistically significant association between brain stem abnormalities and callosal dysgenesis (P = .011) and developmental delay (P = .035), respectively.ConclusionMidbrain-hindbrain abnormalities are a significant, albeit underrecognized, component of the septo-optic dysplasia spectrum, and are significantly associated with developmental delay in affected patients.
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Project description:Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder belonging to the group of mid-line brain malformations. Despite the highly variable phenotypic penetration, its classical triad include a) optic nerve hypoplasia (ONH), b) agenesis of septum pellucidum and corpus callosum, and c) hypoplasia of the hypothalamo-pituitary axis. SOD has stringent diagnostic criteria requiring 2 or more features of the classic triad, therefore it represents a separate entity from other conditions such as ONH and achiasmia syndromes which share only some of these aspects, or SOD plus syndrome which is characterized by additional cortical abnormalities. Starting from its etiology and epidemiology, this narrative review focuses on the management of SOD patients, including their diagnosis, treatment and follow-up. To date, SOD is not curable; nonetheless, many of its symptoms can be improved through a tailored approach, consisting of hormonal replacement, corrective ophthalmological surgery and neuropsychological support.
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