Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration.
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ABSTRACT:
SUBMITTER: Kahook MY
PROVIDER: S-EPMC1478164 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Information on the hypothalamic pituitary ovarian axis in congenital disorders of glycosylation (CDG) females is scarce. Varying hormonal profiles and degrees of virilization in CDG females suggest a spectrum of yet unidentified mechanisms affected by impaired N-glycosylation. We describe an ALG6D woman who completed puberty with normal gonadotropins and testosterone levels, no virilization, and regular menses. Hormonal follow-up of CDG females is necessary to improve our understanding of the role of glycosylation in pubertal development.
| S-EPMC3869397 | biostudies-literature
Project description: Not available
| S-EPMC3216431 | biostudies-literature
Project description:ObjectiveTo characterize the phenotype, headache-related disability, medical co-morbidities, use of symptomatic headache medications, and headache response to study interventions in the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT).MethodsPatients with untreated IIH and mild vision loss enrolled in the IIHTT and randomized to acetazolamide (ACZ) and weight loss or placebo (PLB) and weight loss had prospective assessment of headache disability using the Headache Impact Test-6 (HIT-6) questionnaire. Subjects with headache at the baseline visit were assigned a headache phenotype using the International Classification for Headache Disorders version 3 beta (ICHD-3b). Medication overuse was determined using the participants' reported medication use for the preceding month and ICHD-3b thresholds for diagnosing medication overuse headache. We investigated relationships between headache disability and various other clinical characteristics at baseline and at 6 months.ResultsHeadache was present in 139 (84%) of the 165 enrollees at baseline. The most common headache phenotypes were migraine (52%), tension-type headache (22%), probable migraine (16%), and probable tension-type headache (4%). Fifty-one (37%) participants overused symptomatic medications at baseline, most frequently simple analgesics. A similar amount of improvement in the adjusted mean (± standard error) HIT-6 score occurred in the ACZ (-9.56 ± 1.05) and PLB groups (-9.11 ± 1.14) at 6 months (group difference -0.45, 95% CI -3.50 to 2.60, P = .77). Headache disability did not correlate with any of the studies, variables of interest, which included: the lumbar puncture opening pressure at baseline or at 6 months, body mass index, the amount of weight lost, papilledema grade, perimetric mean deviation, or the use of hormonal contraception. Headache disability was significantly associated with patient-reported quality of life in the physical, mental, and visual domains.ConclusionsHeadache was common, of varied character, disabling, and associated with poorer quality of life in our cohort of patients with mild visual impairment. The lack of correlation between headache disability and cerebrospinal fluid (CSF) pressure at baseline and at the end of the randomized phase of the study implies that headache in IIH may be related to factors other than intracranial hypertension, and that specific headache treatment is needed in addition to therapies directed at lowering CSF pressure.
| S-EPMC5799151 | biostudies-literature
Project description:ObjectiveTo delineate the factors contributing to overdiagnosis of idiopathic intracranial hypertension (IIH) among patients seen in one neuro-ophthalmology service at a tertiary center.MethodsWe retrospectively reviewed new patients referred with a working diagnosis of IIH over 8 months. The Diagnosis Error Evaluation and Research taxonomy tool was applied to cases referred with a diagnosis of IIH and a discrepant final diagnosis.ResultsOf 1,249 patients, 165 (13.2%) were referred either with a preexisting diagnosis of IIH or to rule out IIH. Of the 86/165 patients (52.1%) with a preexisting diagnosis of IIH, 34/86 (39.5%) did not have IIH. The most common diagnostic error was inaccurate ophthalmoscopic examination in headache patients. Of 34 patients misdiagnosed as having IIH, 27 (27/34 [79.4%]; 27/86 [31.4%]) had at least one lumbar puncture, 29 (29/34 [85.3%]; 29/86 [33.7%]) had a brain MRI, and 8 (8/34 [23.5%]; 8/86 [9.3%]) had a magnetic resonance/CT venogram. Twenty-six had received medical treatment, 1 had a lumbar drain, and 4 were referred for surgery. In 8 patients (8/34 [23.5%]; 8/86 [9.3%]), an alternative diagnosis requiring further evaluation was identified.ConclusionsDiagnostic errors resulted in overdiagnosis of IIH in 39.5% of patients referred for presumed IIH, and prompted unnecessary tests, invasive procedures, and missed diagnoses. The most common errors were inaccurate ophthalmoscopic examination in headache patients and thinking biases, reinforcing the need for rapid access to specialists with experience in diagnosing optic nerve disorders. Indeed, the high prevalence of primary benign headaches and obesity in young women often leads to costly and invasive evaluations for presumed IIH.
| S-EPMC4776085 | biostudies-literature
Project description:Treatment for a patient who presented with severe headaches and decreased vision caused by idiopathic intracranial hypertension was complicated by nonadherence and pregnancy, but the patient's symptoms resolved after a successful delivery.
| S-EPMC6364811 | biostudies-literature
Project description:Idiopathic intracranial hypertension (IIH) is a condition of unknown etiology often encountered in neurologic practice. It produces nonlocalizing symptoms and signs of raised intracranial pressure and, when left untreated, can result in severe irreversible visual loss. It most commonly occurs in obese women of childbearing age, but it can also occur in children, men, nonobese adults, and older adults. Although it is frequently associated with obesity, it can be associated with other conditions, such as obstructive sleep apnea and transverse cerebral venous sinus stenoses. Recent identification of subgroups at high risk for irreversible visual loss, including black patients, men, and patients with fulminant forms of IIH, help guide the optimal management and follow-up. Ongoing studies of venous anatomy and physiology in IIH patients, as well as a recently begun randomized clinical treatment trial, should provide further insight into this common yet poorly understood syndrome.
| S-EPMC3674489 | biostudies-other
Project description:PurposeWe described 3 types of folds in the retina and a crease in the outer retina associated with papilledema owing to idiopathic intracranial hypertension (IIH) at presentation. We report the change in folds relative to treatment of IIH over the 6 months.MethodsIn this substudy of a randomized clinical trial, study eyes of subjects assigned to acetazolamide (ACZ, n = 44) or placebo (PLB, n = 43) had spectral-domain optical coherence tomography (SDOCT) images of the optic disc and macula regions at baseline and at 3 and 6 months. Images were evaluated for peripapillary wrinkles (PPW), retinal folds (RF), choroidal folds (CF), and creases using transaxial and en face views. The optic nerve head (ONH) shape, retinal nerve fiber layer (RNFL) thickness, ONH volume, and papilledema grade were measured. Outcome was determination of the presence or absence of PPW, RF, CF, and creases.ResultsAt presentation, except for an increase of PPW in ACZ eyes (64% vs 28%), both treatment groups were matched for all OCT features. At 6 months, ACZ-treated, but not PLB-treated, eyes had fewer folds of all types (P < .01), with a 57% reduction in frequency of RF. Creases did not resolve. Resolution of RF, but not of PPW and CF, was associated with significant reduction in RNFL thickness, ONH volume, and papilledema grade.ConclusionsThe various types of retinal folds associated with papilledema reflect biodynamic processes and show an ACZ treatment effect. Persistence of these folds despite marked improvement in ONH swelling suggests permanent changes in the affected retinal tissues.
| S-EPMC5376523 | biostudies-literature
Project description:ObjectiveHeadache is the predominant disabler in idiopathic intracranial hypertension (IIH). The aim was to characterise headache and investigate the association with intracranial pressure.MethodsIIH:WT was a randomised controlled parallel group multicentre trial in the United Kingdom investigating weight management methods in IIH. Participants with active IIH (evidenced by papilloedema) and a body mass index (BMI) ≥35 kg/m2 were recruited. At baseline, 12 months and 24 months headache characteristics and quality of life outcome measures were collected and lumbar puncture measurements were performed.ResultsSixty-six women with active IIH were included with a mean age of 32.0 years (SD ± 7.8), and mean body mass index of 43.9 ± 7.0 kg/m2. The headache phenotype was migraine-like in 90%. Headache severity correlated with ICP at baseline (r = 0.285; p = 0.024); change in headache severity and monthly headache days correlated with change in ICP at 12 months (r = 0.454, p = 0.001 and r = 0.419, p = 0.002 respectively). Cutaneous allodynia was significantly correlated with ICP at 12 months. (r = 0.479, p < 0.001). Boot strap analysis noted a positive association between ICP at 12 and 24 months and enabled prediction of both change in headache severity and monthly headache days. ICP was associated with significant improvements in quality of life (SF-36).ConclusionsWe demonstrate a positive relationship between ICP and headache and cutaneous allodynia, which has not been previously reported in IIH. Those with the greatest reduction in ICP over 12 months had the greatest reduction in headache frequency and severity; this was associated with improvement of quality of life measures.Trial registrationThis work provides Class IIa evidence of the association of raised intracranial pressure and headache. ClinicalTrials.gov number, NCT02124486 .
| S-EPMC8499560 | biostudies-literature
Project description:There is increasing interest in venous sinus stenting in patients with idiopathic intracranial hypertension who are refractory to medical therapy. Often the transverse sinus stenoses are bilateral, however, and there is no clear evidence for whether we should stent one or both sides in these patients. Our practice is to first stent one side, and in this brief case report, we demonstrate complete resolution of the contralateral stenosis in one such patient who underwent stenting. Her symptoms also completely resolved, and so this case highlights the dynamic fluctuant nature of the transverse sinuses.
| S-EPMC6998005 | biostudies-literature
Project description:Background/aimsPrior studies support an association between increased retinal venule diameter and elevated intracranial pressure (ICP). The purpose of this study was to test the hypothesis that retinal venule diameters decrease in association with long-term therapy for high ICP in subjects with idiopathic intracranial hypertension (IIH).MethodsThis is a retrospective analysis of multicentre randomised controlled trial data. Standardised procedures were used to measure area of optic nerve head elevation (ONHA) and diameters of 4 arterioles and 4 venules 2.7 mm from the optic disc centre on fundus photos collected at baseline and after 6 months of randomised treatment with placebo+diet or acetazolamide+diet in subjects participating in the IIH Treatment Trial (IIHTT) (n=115). Change in arteriole (Da) and venule (Dv) diameters from baseline to 6 months was studied as a function of IIH, haemodynamic and demographic variables.ResultsDv decreased following 6 months of therapy (8.1 µm, 5.9%, p<0.0005) but Da did not change. Dv change was associated with ONHA change (p<0.0005, r=0.47) and this association persisted in multiple variable models.ConclusionsRetinal venule diameter decreased, and arteriole diameter did not change in association with treatment for elevated ICP with a weight loss intervention and placebo or acetazolamide in IIHTT participants. Further study is needed to determine how retinal vessel measurements can be combined with other clinical observations to inform disease management.
| S-EPMC7713512 | biostudies-literature