Diffuse Atrophy Research Articles

Chronic rhinosinusitis with osteomyelitis in a geriatric snow leopard (Panthera uncia)

AbstractA geriatric, 16‐year‐9‐month‐old, male snow leopard (Panthera uncia) under human care was necropsied after euthanasia over concerns for worsening chronic kidney disease and bilateral blindness. Gross and histological examinations revealed necrotising frontal sinusitis and osteomyelitis with mixed‐cellular rhinotracheitis, affecting the right frontal sinus, right nasal cavity and trachea, respectively, with intralesional and cilia‐associated Gram‐negative bacilli detected. Microbiological cultures were inconclusive, although Bordetella bronchiseptica and feline herpesvirus 1 were positive on PCR analysis. Immunohistochemistry, however, refuted active feline herpesvirus 1 involvement. Marked, chronic, bilateral, renal degeneration and fibrosis (chronic kidney disease), mild hepatic cirrhosis, bilateral chronic degenerative stifle joint disease and testicular intratubular seminoma were also detected on postmortem examination. No gross ocular or optic nerve lesions were identified; however, histology indicated bilateral diffuse outer retinal atrophy and retinal detachment, supportive of clinical blindness at time of death. This case represents the first report of chronic rhinosinusitis and osteomyelitis in a snow leopard.

A Systematic Review of Traumatic Brain Injury in Modern Rodent Models: Current Status and Future Prospects.

According to the Centers for Disease Control and Prevention (CDC), the national public health agency of the United States, traumatic brain injury is among the leading causes of mortality and disability worldwide. The consequences of TBI include diffuse brain atrophy, local post-traumatic atrophy, arachnoiditis, pachymeningitis, meningocerebral cicatrices, cranial nerve lesions, and cranial defects. In 2019, the economic cost of injuries in the USA alone was USD 4.2 trillion, which included USD 327 billion for medical care, USD 69 billion for work loss, and USD 3.8 trillion for the value of statistical life and quality of life losses. More than half of this cost (USD 2.4 trillion) was among working-age adults (25-64 years old). Currently, the development of new diagnostic approaches and the improvement of treatment techniques require further experimental studies focused on modeling TBI of varying severity.

A study to determine the efficacy of intense pulse light in vascular mode for topical steroid damaged facies

Objectives: Misuse of topical corticosteroids on the face has gradually evolved over the years and has now reached phenomenal proportions on account of easy availability, widespread misinformation, and the fairness craze sweeping across the land. Topical steroid-damaged/dependent facies (TSDFs) may present with diffuse erythema, telangiectasia, papules, and atrophy. Current modalities used for the management of TSDF, such as topical tacrolimus and oral antibiotics, have shown a variable response. Intense pulsed light (IPL) systems are economical, have a higher safety margin, and are widely available. The goal of treating vascular lesions with IPL is to raise blood vessel temperature high enough to cause coagulation, leading to destruction and healing with fibrosis. In our study, we exploit these properties of IPL for the management of TSDF. Material and Methods: A total of 15 patients of TSDF were recruited and were treated with three sessions of IPL treatments (vascular mode) 3 weeks apart and were assessed based on a clinical score for TSDF, visual analog scale (VAS) for erythema assessed by the physician and patient at the end of 9 weeks. Results: There was a significant response with a reduction in clinical score of 5.4 points (P > 0.001) and a reduction in physician and patient-assessed VAS for erythema of 3.47 and 3.73, respectively. Conclusion: There is a scarcity of data regarding the efficacy of various treatment modalities for TSDF. Our study establishes IPL (vascular mode) as an innovative emerging modality of treatment.

Peripapillary retinal thickness and its risk factors in dry-type high myopia

IntroductionTo evaluate the alterations in the peripapillary retinal thickness and its risk factors in dry-type high myopia (HM). MethodsOne hundred and twenty eyes in 69 HM subjects were collected from March 2023 to July 2023 with the age, refractive diopter, axial length (AL), posterior scleral staphyloma, type of myopic maculopathy, and peripapillary retinal thickness. Divided into three groups according to the international photo-graphic classification system: Category 0 (C0) with no myopic retinal degenerative lesions, Category 1 (C1) with tessellated fundus, and Category 2 (C2) with diffuse chorioretinal atrophy. Peripapillary retinal thickness was assessed using swept-source optical coherence tomography (SS-OCT) B-scans. All data were analyzed with the SPSS software version 23.0 by one-way ANOVA test among three groups. Linear regression and pearson correlation analysis were used to determine the relationships among measurements. ResultsThe retinal thickness of the peripapillary was measured from the superior, nasal, inferior, and temporal directions around the optic disc. The superior, nasal, and inferior peripapillary retinal thickness in the C2 group decreased significantly in all three groups. The retinal thicknesses decreased significantly with the increase of AL in the superior, nasal, and inferior. The retinal thicknesses increased significantly with the increase of refractive diopter, except for the temporal sector. The retinal thickness decreased significantly with the increase of age in dry-type HM. There was no significant difference between peripapillary retinal thickness and the wide macular staphyloma. ConclusionsIndividuals in the C2 group had a thinner peripapillary retinal thickness than other groups, except for the temporal sector. The retinal thicknesses of the peripapillary decreased significantly with the increase of AL and increased significantly with the increase of refractive diopter, except for the temporal sector. With the increase of age, the retinal thickness of the peripapillary decreased significantly. Ophthalmologists and HM patients should pay attention to changes in the thickness of the peripapillary retina and the growth of age.

Conventional structural magnetic resonance imaging in differentiating chronic disorders of consciousness

BACKGROUND: Differential diagnosis of chronic disorders of consciousness remains one of the most difficult problems even for experienced clinicians. AIM: To evaluate the inter-expert consistency and capacity of the researcher-developed structural scale based on magnetic resonance imaging to differentiate chronic disorders of consciousness, named, DOC-MRIDS, on a larger sample of patients. MATERIALS AND METHODS: Sixty patients with a clinically stable status diagnosed with consciousness disorders (vegetative state, n=32; minimally conscious state, n=28) were enrolled. The revised coma recovery scale (CRS-R) was included in the clinical assessment. All patients underwent structural magnetic resonance imaging with 3.0-T Siemens scanners including T2 and T1 sequences. Structural changes were assessed using the DOC-MRIDS scale and included the following features: diffuse cortical atrophy, ventricular enlargement, gyri dilatation, leukoaraiosis, brainstem and/or thalamic degeneration, corpus callosum degeneration, and focal corpus callosum lesions. A total score was calculated. Magnetic resonance imaging data were analyzed by three neuroradiologists, and inter-observer agreement (Krippendorf’s alpha) was assessed. RESULTS: A high inter-examiner agreement of the DOC-MRIDS scale score was found, with α=0.806 (95% confidence interval 0.757–0.849). The vegetative state group had a higher DOC-MRIDS score than the minimally conscious state group (p 0.005). A negative correlation was obtained between CRS-R and DOC-MRIDS scale scores (ρ=–0.457, p 0.0001), individual clinical scale domains, and magnetic resonance imaging features. CONCLUSION: When assessing structural changes in patients with chronic consciousness disorders, the use of the DOC-MRIDS scale helps differentiate the type of such disorders with sufficient specificity, sensitivity, and inter-rater agreement. This scale can be used in clinical practice as an additional differential diagnostic tool.

A - 44 Value of Repeat Neuropsychological Assessments in Children with Complex Birth and Neurological Injuries

Abstract Objective Extremely low birth weight, in-utero insult, and PVL are associated with an array of neurodevelopmental complications. PVL is most common in very premature. Associated complications in this case study include diffuse demyelination, cerebellar atrophy, and arthrogryposis. Data from serial assessments reveal preservation of intelligence, decoding, and social skills. Implications for the role of repeat assessments in guiding education and intervention are discussed. Method The subject was an 18-year-old male with extremely low birth weight, in-utero insult, PVL, cerebellar atrophy, delayed myelination, and arthrogryposis. His presentation also included craniosynostosis. Three outpatient neuropsychological assessments were completed over eight years. Assessments included measures of intellectual, academic, neurocognitive, and emotional functions. Results Despite multiple physical and neurological impairments, assessments revealed preserved verbal and nonverbal intelligence, phonemic awareness, computation skills, and social cognition. Deficits were evident in processing speed, rapid naming, math fluency, word fluency, working memory, and executive functions. Academic strengths were evident in reading and written expression. Checklists revealed inattention and impulsivity with strengths in social cognition (See data tables). Conclusions This study demonstrates both variability in outcome following a complex birth history and neurological history and the value of repeat neuropsychological assessments. Assessment data was used to identify and build upon preserved skills and focus intervention strategies. Maintained verbal and nonverbal reasoning skills, in the context of strong social cognition, significantly contributed to progress, self-esteem, and future goals. Repeat neuropsychological assessment is well-suited for such cases. Access to such assessments is critical and should be regarded as medically necessary to guide intervention and promote positive outcomes.

B - 109 Long-Term Cognitive Effects of Combined Opioid/Non-Opioid Use

Abstract Objective Chronic pain is estimated to afflict 25–50% of community-dwelling older adults (Cravello et al., 2019). Despite the growing epidemic, opioids remain commonly prescribed analgesics, and approximately 10% of older adults with intermittent opioid use become chronic users (Ramachandran et al., 2021). This is concerning given an observed association between cognitive decline and prescription opioid use within this population (Warner et al., 2022). In efforts to reduce opioid consumption, opioid/non-opioid combinations have been used (Pergolizzi et al., 2023); however, the long-term cognitive impact of such alternatives has not been investigated. Thus, the current case report investigates the neurocognitive outcome following longtime opioid/non-opioid combination cessation in the context of chronic pain. Method A 69-year-old Black woman with approximate 30-year history of chronic pain underwent neuropsychological re-evaluation 2 years post-initial assessment and 1.5 years after stopping combined hydromorphone/clonidine use via intrathecal pump. Baseline MRI brain revealed mild diffuse atrophy and punctate nonspecific T2 white matter hyperintensities. CT head approximately 1 year later was unremarkable. Results Neuropsychological re-assessment approximately 2 years post-baseline evaluation revealed significantly declined performances on speed-mediated tasks (e.g., oral numeric sequencing, fluency) amid an otherwise grossly stable, albeit globally impaired, cognitive profile. Conclusions This study elucidates the impact of a 1.5-year period of abstinence from 13 years of combined intrathecal opioid/non-opioid use. Overall, results suggest that cognitive performance, even following this abstinence period, is not improved. Thus, while opioid/non-opioid therapies may reduce opioid exposure, deleterious cognitive effects persist. This study highlights the importance of non-opioid analgesics in efforts to attenuate cognitive impairment risk.

Progression Patterns and Risk Factors of Axial Elongation in Young Adults With Nonpathologic High Myopia: Three-Year Large Longitudinal Cohort Follow-Up

To investigate the progression patterns and risk factors of axial elongation in young adults with nonpathologic high myopia. Prospective, clinical observational cohort study with 2- to 4-year follow-up. A total of 1043 eyes of 563 participants (3515 medical records) aged 18 to 50 years with nonpathologic high myopia (axial length [AL] ≥ 26 mm; myopic maculopathy < diffuse chorioretinal atrophy; without posterior staphyloma) were included from 1546 participants (6318 medical records). Annual axial elongation was calculated via linear mixed-effect models. The associated risk factors of axial elongation were determined by ordinal logistic regression analysis, with generalized estimate equations for eliminating an interocular correlation bias. Based on 5359 times of AL measurements, the annual axial elongation of participants (mean [SD] age 31.39 [9.22] years) was 0.03 mm/year (95% confidence interval [CI], 0.03-0.04; P < .001) during a 30.23 (6.06) months' follow-up. Severe (>0.1 mm/year), moderate (0.05-0.09 mm/year), mild (0-0.049 mm/year), and nil (≤0 mm/year) elongation was observed in 122 (11.7%), 211 (20.2%), 417 (40.0%), and 293 (28.1%) eyes. The following risk factors were significantly associated with axial elongation: baseline AL ≥ 28 mm (odds ratio [OR], 4.23; 95% CI, 2.95-6.06; P < .001); age < 40 years (OR, 1.64; 95% CI, 1.18-2.28; P = .003); axial asymmetry (OR, 2.04; 95% CI, 1.26-3.29; P = .003), and women (OR, 1.52; 95% CI, 1.13-2.2.05; P = .006). Using antiglaucoma medications was a protective factor (OR, 0.46; 95% CI, 0.27-0.79; P = .005), which slowed 75% of axial elongation from 0.04 (0.06) to 0.01 (0.06) mm/y (P < .001). Axial elongation continued in young adults with nonpathologic myopia. Risk factors included longer baseline AL and axial asymmetry, younger age, and woman. Topical use of antiglaucoma medications may be useful to reduce ongoing axial elongation.

Choroidal vascular changes in early-stage myopic maculopathy from deep learning choroidal analysis: a hospital-based SS-OCT study

BackgroundThe objective of this study is to illustrate the changes in the choroidal vasculature in individuals with diffuse chorioretinal atrophy (DCA, early-stage myopic maculopathy) and investigate the association between them.MethodsThis study included 1418 highly myopic eyes from 720 participants aged 18 − 60 years from the Wenzhou High Myopia Cohort Study. These participants underwent comprehensive ophthalmic assessments. Myopic maculopathy classification followed the Meta-PM system, with pathological myopia defined as myopic maculopathy of DCA or severer. Eyes with myopic maculopathy categorized as no macular lesions (C0), tessellated fundus (C1), and DCA (C2) were enrolled in the analysis. Choroidal images were obtained from swept-source optical coherence tomography (SS-OCT), and the images were processed with a deep learning-based automatic segmentation algorithm and the Niblack auto-local threshold algorithm.ResultsDCA was detected in 247 eyes (17.4%). In comparison to eyes with C0, those with C2 exhibited significant reductions in choroidal thickness (ChT), luminal area (LA), and stromal area (SA) across all evaluated regions (all P < 0.001). An increase in choroidal vascular index (CVI) was observed in all regions, except for the nasal perifoveal (N2) and inferior perifoveal (I2) regions (all P < 0.01). Multivariable logistic regression analysis revealed a negative association between the presence of DCA and increases in choroidal LA and SA (odds ratio ≤ 0.099, P < 0.001). Multivariable linear regression analysis showed that the mean deviation of the visual field test was positively associated with LA and SA at the vertical meridian (B = 1.512, P < 0.001 for LA; B = 1.956, P < 0.001 for SA). Furthermore, the receiver operating characteristic curve analyses showed the optimal ChT to diagnose pathological myopia was 82.4 µm in the N2 region, the LA was 0.076 mm2 and the SA was 0.049 mm2, with area under the curves of 0.916, 0.908, and 0.895, respectively.ConclusionsThe results of this study indicated that both the presence of DCA and visual function impairment were associated with reductions in choroidal perfusion and stromal components. Moreover, we established threshold values for choroidal parameters in diagnosing pathological myopia, offering valuable references for clinical diagnosis and management.

Hot cross bun sign in JC-Virus Granule cell neuronopathy in HIV infected patient – a case report

BackgroundJohn Cunningham virus related granule cell neuronopathy (JCV-GCN) is a rare manifestation of the reactivation of infection of the cerebellar granule cells by the JCV, mostly in immunocompromised individuals. The “hot cross bun” (HCB) sign is a cruciform hyperintensity seen in the midpons on T2-weighted and fluid attenuated inversion recovery (FLAIR) sequences on magnetic resonance imaging (MRI) of the brain. An index sub-Saharan Africa report of a case of JCV-GCN with HCB sign follows.Case PresentationA 27-year-old HIV positive female with JCV-GCN was re-evaluated for chronic ataxia complicated by subacute progressive horizontal diplopia. Cerebrospinal fluid (CSF) had trace Mycobacterium tuberculosis (MTB) detected by GeneXpert Mycobacterium Tuberculosis/Rifampicin resistance (MTB/RIF) assay test. Brain MRI revealed diffuse severe cerebellar atrophy with a hot cross bun sign and patchy enhancement contiguous to the cerebellar dentate nuclei bilaterally. She continued Highly Active Antiretroviral Therapy (HAART) pending CSF HIV viral load counts and started standard brain TB local treatment regimen protocols with progressive improvement in limb ataxia.ConclusionsIn conclusion, finding of the HCB sign may be indicative of and aid diagnosis of JCV-GCN in the right clinical context. This could be an important neuroimaging marker in this context, that may radiologically be more evident in later stages of the condition.

Characteristics of myopic maculopathy in Chinese children and adolescents with high myopia

AimsTo investigate the characteristics of myopic maculopathy among highly myopic Chinese children and adolescents and explore its associated risk factors.MethodsChildren and adolescents aged 7–17 years with spherical equivalent (SE) ≤...

Comparative analysis of macular characteristics in mCNV and contralateral eyes.

To illustrate the characteristics of perforating scleral vessels in macular regions between mCNV eyes and contralateral eyes in unilateral mCNV patients. This was a retrospective study that included patients with unilateral naive mCNV. The study aimed to identify and analyze the distribution of perforating scleral vessels (PSVs) in the macular region of mCNV eyes and contralateral eyes. The central macular choroidal thicknesses (mChT) were measured using optical coherence tomography angiography (OCTA). The grades of myopic atrophic maculopathy (MAM) and macular myopic diffuse chorioretinal atrophy (DCA) were evaluated within groups. The number of PSVs and mChT were compared between contralateral and mCNV eyes based on the grade of DCA. The ROC curves were utilized to explore the diagnostic indexes for mCNV. A total of 102 eyes from 51 patients with unilateral mCNV were included. There was no significance in the severity of MAM or the grade of DCA between mCNV eyes and contralateral eyes (p = 0.074, p = 0.054, respectively). The mean number of PSVs in mCNV eyes was fewer than the contralateral eyes [1.00 (1.00-2.00) vs. 2.00 (0.75-3.00), p = 0.030]. The mChT in mCNV eyes was thinner than the contralateral eyes [36.00 (25.00-53.75) μm vs. 46.00 (31.00-75.25) μm, p = 0.001]. The mean grade of DCA in mCNV eyes was higher than that in contralateral eyes [3.00 (3.00-3.00) vs. 3.00 (2.00-3.00), p = 0.004]. When DCA involved the macular region, there were more PSVs in contralateral eyes than in mCNV eyes [1.50 (1.00-2.00) vs. 2.00 (1.00-3.00), p = 0.042]. Similarly, when DCA involved the foveal region, there were more PSVs in contralateral eyes than in mCNV eyes [1.50 (1.00-2.00) vs. 3.00 (2.00-4.00), p = 0.004]. The grade of DCA and mChT were valuable factors for predicting mCNV eyes (AUC = 0.6566, p = 0.021; AUC = 0.6304, p = 0.029; respectively). When the extent of DCA exceeded the foveal region, the count of PSVs was a good diagnostic factor for predicting mCNV (AUC = 0.7430, p = 0.003). The mean amount of PSVs was significantly lower in the mCNV eyes compared to the contralateral eyes. When the extent of DCA exceeded the foveal region, the count of PSVs was a good diagnostic factor for predicting mCNV. Myopic eyes with a higher grade of DCA and a thinner mChT were more likely to develop mCNV.

Bruch's Membrane Opening Changes in Eyes With Myopic Macular Degeneration: AIER-SERI Adult High Myopia Study.

The purpose of this study was to assess the choroidal thickness and the Bruch's membrane opening size and their relationship to visual acuity in eyes with myopic macular degeneration (MMD). This was a population-based, cross-sectional study. Patients over the age of 30years with high myopia (spherical equivalent ≤-5 diopters [D]) were recruited. The eyes were grouped according to the International Meta-Analysis for Pathologic Myopia (META-PM) classification based on fundus photographs and diffuse atrophy was subdivided into peripapillary diffuse choroidal atrophy (PDCA) or macular diffuse choroidal atrophy (MDCA). Swept-source optical coherence tomography imaging was performed and then the subfoveal choroidal thickness (SFCT) and Bruch's membrane opening diameter (BMOD) were measured. Of the 470 study participants recruited, 373 patients (691 eyes), with a mean age of 42.8 ± 7.2years, were eligible for the study and included in the analysis. There was no significant difference in SFCT between MDCA and patchy atrophy (M3) groups (P = 1.000), and the BMOD enlarged significantly from no myopic macular lesions to M3 (the P values of multiple comparison tests were all <0.005). Simple linear regression analysis showed that BMOD correlated positively with age (P < 0.001) and axial length (P < 0.001). Multiple linear regression analysis showed that best corrected visual acuity (BCVA) was significantly correlated with age (P = 0.041), axial length (P = 0.001), and BMOD (P = 0.017), but not with SFCT (P = 0.231). The significant variation of BMOD among MMD groups and the correlation between BMOD and BCVA in MMD eyes suggest that BMOD may be an imaging biomarker for monitoring MMD.

Herpes Zoster Ophthalmicus-Induced Oculomotor Nerve Atrophy

Purpose: To present a case of oculomotor nerve atrophy complicated by herpes zoster ophthalmicus (HZO).Case summary: A 68-year-old man with a history of type 2 diabetes and dyslipidemia complained of diplopia and deviation in left eye. On examination, visual acuity was 20/25 in right eye and 20/20 in left eye. Prism and alternate cover tests revealed right exotropia and hypertropia in the primary position. Examination of ductions and versions showed limitation of adduction and depression in the right eye. On detailed history taking, we found that his symptoms started after suffering HZO on right side about 2 years ago. He was prescribed antiviral agents from a dermatology clinic and was told that all symptoms would improve after medication so he didn't undergo an ophthalmologic examination at that time. Magnetic resonance imaging confirmed that diffuse atrophy of oculomotor nerve in cistern along with atrophic changes of medial rectus and inferior rectus muscles in right eye. A diagnosis of strabismus complicated by HZO-induced oculomotor nerve atrophy was done.Conclusions: Ophthalmoplegia secondary to HZO may not be self-limiting and have a poor prognosis resulting in cranial nerve atrophy. A detailed imaging investigation of extraocular muscle and cranial nerves along with thorough history taking are required for proper diagnosis and better prognosis.

Definition and analysis of gray matter atrophy subtypes in mild cognitive impairment based on data-driven methods.

Mild cognitive impairment (MCI) is an important stage in Alzheimer's disease (AD) research, focusing on early pathogenic factors and mechanisms. Examining MCI patient subtypes and identifying their cognitive and neuropathological patterns as the disease progresses can enhance our understanding of the heterogeneous disease progression in the early stages of AD. However, few studies have thoroughly analyzed the subtypes of MCI, such as the cortical atrophy, and disease development characteristics of each subtype. In this study, 396 individuals with MCI, 228 cognitive normal (CN) participants, and 192 AD patients were selected from ADNI database, and a semi-supervised mixture expert algorithm (MOE) with multiple classification boundaries was constructed to define AD subtypes. Moreover, the subtypes of MCI were obtained by using the multivariate linear boundary mapping of support vector machine (SVM). Then, the gray matter atrophy regions and severity of each MCI subtype were analyzed and the features of each subtype in demography, pathology, cognition, and disease progression were explored combining the longitudinal data collected for 2 years and analyzed important factors that cause conversion of MCI were analyzed. Three MCI subtypes were defined by MOE algorithm, and the three subtypes exhibited their own features in cortical atrophy. Nearly one-third of patients diagnosed with MCI have almost no significant difference in cerebral cortex from the normal aging population, and their conversion rate to AD are the lowest. The subtype characterized by severe atrophy in temporal lobe and frontal lobe have a faster decline rate in many cognitive manifestations than the subtype featured with diffuse atrophy in the whole cortex. APOE ε4 is an important factor that cause the conversion of MCI to AD. It was proved through the data-driven method that MCI collected by ADNI baseline presented different subtype features. The characteristics and disease development trajectories among subtypes can help to improve the prediction of clinical progress in the future and also provide necessary clues to solve the classification accuracy of MCI.

Magnetic resonance imaging features of progressive familial intrahepatic cholestasis type3.

Progressive familial intrahepatic cholestasis type3 (PFIC-3) is arare autosomal recessive cholestatic liver disorder. This study aimed to present the clinical and magnetic resonance imaging (MRI) features of three patients with PFIC‑3. The study included three patients with cholestasis and pathogenic variants in the ABCB4 gene identified by next-generation sequencing of atargeted-gene panel or by whole-exome sequencing. The clinical, laboratory, histological, molecular, and MRI features of the patients were collected. Three patients (one male and two females) were enrolled. The age when clinical signs and symptoms were first noted was21, 14, and 39years, respectively, and the signs and symptoms included pruritus and splenomegaly (in all three patients). Parenchymatous lace-like fibrosis was associated with periportal hyperintensity and periportal halo sign in three patients. Segmental atrophy was observed in two patients, diffuse atrophy was observed in one patient, and liver surface irregularity caused by regenerating nodules was observed in three patients. Magnetic resonance cholangiopancreatography (MRCP) images showed irregular bile duct changes in three patients, focal hilar bile duct stenosis, and local intrahepatic bile duct dilatation. Imaging studies using MRI and MRCP can support the clinical and laboratory results in cases of PFIC‑3 and can also be used as anoninvasive diagnostic option.

Developing a model for aqueous deficient dry eye secondary to periglandular cicatrizing conjunctivitis

PurposeThe current study used various techniques to develop a rabbit animal model of lacrimal gland damage caused by scarring conjunctivitis in the periglandular area. MethodsLeft eyes of New Zealand white rabbits were injected with 0.1 ml of 1M NaOH subconjunctivally around superior and inferior lacrimal gland orifices (Group 1, n = 4), touched with 1M NaOH for 100 s to the superior and inferior fornices with conjunctival denuding (Group 2; n = 4), and electrocauterization to the ductal opening area (Group 3; n = 4). The ocular surface staining, Schirmer I, lacrimal gland, and conjunctival changes were observed at baseline,1, 4, 8, and 12 weeks. The degree of glandular inflammation, conjunctival fibrosis (Masson Trichrome), and goblet cell density (PAS) were also assessed. ResultsAt 12 weeks, the lacrimal glands of group 1 rabbits with periglandular injection showed severe inflammation with mean four foci/10HPF and a significant mean reduction in the Schirmer values by 7.6 mm (P = 0.007). Lacrimal glands had diffuse acinar atrophy, loss of myoepithelial cells, and ductular dilatation. The overlying conjunctiva showed fibrosis, goblet cell loss, and corneal vascularization in the inferotemporal quadrant. No lacrimal gland or ocular surface changes were observed in groups 2 and 3 at 12 weeks, except for localized subconjunctival fibrosis. ConclusionPeriglandular injection of 0.1 ml of 1M NaOH induced extensive lacrimal gland damage with reduced secretion and scarring in the subconjunctival plane compared to direct cauterization or direct NaOH contact to the ductal orifices of the rabbit lacrimal gland.

Grey Matter Atrophy and its Relationship with White Matter Lesions in Patients with Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease, Aquaporin-4 Antibody-Positive Neuromyelitis Optica Spectrum Disorder, and Multiple Sclerosis.

To evaluate: (1) the distribution of gray matter (GM) atrophy in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4+NMOSD), and relapsing-remitting multiple sclerosis (RRMS); and (2) the relationship between GM volumes and white matter lesions in various brain regions within each disease. A retrospective, multicenter analysis of magnetic resonance imaging data included patients with MOGAD/AQP4+NMOSD/RRMS in non-acute disease stage. Voxel-wise analyses and general linear models were used to evaluate the relevance of regional GM atrophy. For significant results (p < 0.05), volumes of atrophic areas are reported. We studied 135 MOGAD patients, 135 AQP4+NMOSD, 175 RRMS, and 144 healthy controls (HC). Compared with HC, MOGAD showed lower GM volumes in the temporal lobes, deep GM, insula, and cingulate cortex (75.79 cm3); AQP4+NMOSD in the occipital cortex (32.83 cm3); and RRMS diffusely in the GM (260.61 cm3). MOGAD showed more pronounced temporal cortex atrophy than RRMS (6.71 cm3), whereas AQP4+NMOSD displayed greater occipital cortex atrophy than RRMS (19.82 cm3). RRMS demonstrated more pronounced deep GM atrophy in comparison with MOGAD (27.90 cm3) and AQP4+NMOSD (47.04 cm3). In MOGAD, higher periventricular and cortical/juxtacortical lesions were linked to reduced temporal cortex, deep GM, and insula volumes. In RRMS, the diffuse GM atrophy was associated with lesions in all locations. AQP4+NMOSD showed no lesion/GM volume correlation. GM atrophy is more widespread in RRMS compared with the other two conditions. MOGAD primarily affects the temporal cortex, whereas AQP4+NMOSD mainly involves the occipital cortex. In MOGAD and RRMS, lesion-related tract degeneration is associated with atrophy, but this link is absent in AQP4+NMOSD. ANN NEUROL 2024;96:276-288.

Retinal toxicity secondary to inadvertent subretinal mitomycin C injection

Purpose: To report a patient who developed retinal toxicity following inadvertent subretinal mitomycin C injection during glaucoma surgery. Methods: Case report and review of the literature. Results: A 73-year-old man underwent glaucoma tube shunt surgery with sub-Tenon’s mitomycin C injection. Postoperatively he developed retinal edema, hemorrhages, and occlusive vasculopathy localized to the quadrant of the mitomycin C injection. It was determined that the sclera had been inadvertently punctured during mitomycin C injection, resulting in subretinal placement of the medication and resultant retinal toxicity. At postoperative month one, there was diffuse chorioretinal atrophy in the area of the injection. The macula was spared and he retained his preoperative visual acuity. Conclusion: Inadvertent subretinal mitomycin C injection may occur when attempting to inject the drug into the sub-Tenon’s space and can result in localized retinal toxicity.

Drug‐refractory epilepsy as presenting feature of Niemann–Pick disease

AbstractNiemann–Pick disease type C (NPC) is a lipid storage disorder having varied neurological, psychiatric, and visceral manifestations. Twenty‐seven‐year‐old female presented to the hospital with recurrent episodes of seizures for the last one and half year. She had delayed motor and language milestones and was scholastically poor in school. On examination, vertical saccades were slow with downgaze restriction. Higher mental function examination revealed predominant impairment of frontal and temporal lobe functions. She also had intermittent oromandibular dyskinesis. Cerebrospinal fluid analysis showed nil cells with protein 28 mg/dL and glucose 54 mg/dL. MRI brain showed diffuse supratentorial cerebral atrophy with atrophy of corpus callosum and multiple subcortical and periventricular T2/FLAIR hyperintensities. A clinical suspicion of NPC was considered and genetic analysis showed homozygous mutation of the NPC‐2 gene on Exon 3. So, our case was unique in terms of drug‐refractory epilepsy was the presenting feature that led to the diagnosis of NPC.