Neuro-ophthalmologic Findings Research Articles

Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood and adolescence, and a variety of symptoms. Leukodystrophies are usually progressive, resulting in severe disabilities and premature death. Progressive visual impairment is a common symptom. Currently, no overview of the manifold neuro-ophthalmologic manifestations and visual impact of leukodystrophies exists. Methods: Data from 217 patients in the Hamburg leukodystrophy cohort were analyzed retrospectively for neuro-ophthalmologic manifestations, age of disease onset, and magnetic resonance imaging, visual evoked potential, and optical coherence tomography findings and were compared with data from the literature. Results: In total, 68% of the patients suffered from neuro-ophthalmologic symptoms, such as optic atrophy, visual neglect, strabismus, and nystagmus. Depending on the type of leukodystrophy, neuro-ophthalmologic symptoms occurred early or late during the course of the disease. Magnetic resonance imaging scans revealed pathologic alterations in the visual tract that were temporally correlated with symptoms. Conclusions: The first optical coherence tomography findings in Krabbe disease and metachromatic leukodystrophy allow retinal assessments. Comprehensive literature research supports the results of this first overview of neuro-ophthalmologic findings in leukodystrophies.

Evaluation of demographic and neuro-ophthalmologic findings of patients with multiple sclerosis.

The study aims to investigate the demographic and neuroophthalmologic features of patients with multiple sclerosis (MS). This retrospective study investigated 270 eyes of 135 patients with MS. All subjects underwent a full ophthalmological examination. The study investigated 270 eyes of 135 patients with MS. The patients included 102 (74.8%) females and 34 (25.2%) males. The mean age at the time of diagnosis of MS was 29.9 ± 9.6years. The mean follow-up period was 6.7 ± 10.9months. Initial symptoms of MS at presentation included optic neuritis (ON) in 42 patients (15.6%), numbness of hands and feet in 20 patients (7.4%) and diplopia in 11 patients (4.1%). Additional diseases were observed in 29 patients (21.5%) and autoimmune diseases were observed in 11 patients (8.1%). Thirteen patients (9.62%) had relatives with MS; the relatives of five patients were first-degree relatives and the relatives of the remaining eight patients were second-degree relatives. Table 2 summarizes the additional systemic and ocular diseases and family history data. During MS, 72 patients (53.4%) were diagnosed with ON. ON was bilateral in 49 patients (68%) and unilateral in 23 patients (32%). Retrobulbar ON was observed in 77 eyes (81.6%) and papillitis was observed in 18 eyes (18.4%). Disorders of efferent visual pathway function were found in 43 patients (30.4%). Visual impairments are significant in patients with MS. Although ON is the most prevalent symptom of MS, it is important to keep in mind that damage to the efferent visual system can be observed.

Management and Outcome of Pregnancy in Patients With Idiopathic Intracranial Hypertension: A Prospective Case Series Study.

Idiopathic intracranial hypertension (IIH) is a syndrome of increased intracranial pressure without an identifiable cause that mostly affects obese persons of childbearing age. In this prospective case series, we have evaluated the overall outcome of pregnancy and birth in participants with IIH and their newborn children. We also provide a proposal for the management of pregnant persons with IIH. In this observational study, neuro-ophthalmological findings, the course of IIH-related symptoms, disease management, and pregnancy outcomes were evaluated. The participants were divided into 3 groups according to the course of the disease during pregnancy: stable, worsened, and new diagnosed. Furthermore, the type of delivery and outcome of newborn children such as gestational age, weight at birth, and the presence of asphyxia were compared between the groups. We observed 47 pregnancies in 42 participants; 2 had spontaneous abortions. There were 19 (47%) participants in the stable, 18 (45%) in the worsened, and 3 (8%) in the new diagnosed groups, respectively. A relapse of IIH occurred in 2 (5%). Worsening of IIH-related symptoms was experienced by 18/37 (49%) participants: headache by 17/18 (94%), tinnitus by 11/18 (61%), and vision by 7/18 (39%) (mostly in the first and second trimester). In 8/18 (44%), the symptoms were transient or alleviated in the second and third trimester. Body mass index before and after pregnancy did not significantly differ among the groups. A total of 8 participants were treated with acetazolamide. The frequency of cesarean section was 17/40 (43%). Preterm delivery occurred in 22%. No increased risk of asphyxia was observed, and all infants, but one, were healthy. Worsening of headache, tinnitus, and/or vision were experienced by half of pregnant participants with IIH, mostly transient in the first and second trimester, rarely required specific treatment, and were not identified as a relapse of IIH. There was no difference in gestational age and weight at birth in children among the groups, and no perinatal asphyxia was noted. Weight gain in the participants was not identified as a risk factor for relapse of IIH in pregnancy. The rate of cesarean and preterm delivery was higher than in the non-IIH population. A proposal for the management of IIH in pregnancy is provided.

Clinical Course and Ophthalmologic Findings in Idiopathic Intracranial Hypertension and Pregnancy.

Idiopathic intracranial hypertension (IIH) has its highest prevalence among women of childbearing age and therefore frequently coincides with pregnancy. This retrospective cohort study aimed to explore the impact of pregnancy on the clinical course, ophthalmologic findings and on the therapeutic management of IIH patients. Individual patient records were reviewed for neuro-ophthalmologic findings, treatment strategy, adherence to therapy and pregnancy complications. Sixteen patients with 19 documented pregnancies were identified. The visual acuity, visual field defects and the grade of papilledema at baseline and after pregnancy were compared. The visual acuity and visual field mean deviation at baseline and at follow-up after pregnancy did not significantly differ. Papilledema at baseline was more pronounced in patients who had been diagnosed with IIH during pregnancy than in patients with established IIH. In this cohort, the visual acuity and the visual field were not lastingly impacted by pregnancy. The adherence to therapy was low, with 69% discontinuing treatment or medication.

Peripapillary hyper-reflective ovoid mass-like structures (PHOMS): clinical significance, associations, and prognostic implications in ophthalmic conditions.

Pioneering advancements in optical coherence tomography (OCT) have facilitated the discernment of peripapillary hyper-reflective ovoid mass-like structures (PHOMS), prevalent neuro-ophthalmological findings associated with an array of ophthalmic conditions, such as optic disc drusen (ODD), papilledema, myopic/tilted optic discs, non-arteritic anterior ischemic optic neuropathy (NA-AION), and optic neuritis. Despite an expanding corpus of research, numerous inquiries persist concerning their clinical significance, correlations with ocular afflictions, and prognostic implications. This comprehensive review endeavors to impart an in-depth comprehension of PHOMS, encompassing facets like conceptualization, detection, pathogenesis, and associations with diverse ophthalmic conditions. Furthermore, we underscore several unresolved quandaries and suggest prospective avenues for future exploration.

Navigating the learning curve with large and giant tumors: Initial experience with endoscopic endonasal transphenoidal resection of PitNETs

BackgroundThe endoscopic endonasal approach (EEA) has progressively become the preferred choice of surgical intervention for PitNETs. However, the adoption in Sub-Saharan Africa has been low. We report our initial experience with the utility of the EEA in PitNETs particularly in large and giant tumors despite limited resources. MethodsThe study was over a 73-month period at the University College Hospital, Ibadan, Nigeria. Pre and post-operative clinical, imaging and neuro-ophthalmological findings were documented. Perioperative and postoperative outcomes were recorded. We compared the outcomes between the early 23 and later 22 patients. Data were analyzed using descriptive statistics, student’s t test, Mann-Whitney U test and Chi square test at α = 0.05. ResultsThere were 45 patients; 25(55.6%) were males. Mean age was 49.9 ± 13.4 years. Visual symptoms predominated with 12(26%) blind in at least one eye. Median tumor volume was 20.9 cm3 and mean tumor diameter was 4.09 ± 0.89 cm. 31(68.9%) had gross or near total excision. Vision improved in 31(68.9%). There were 2 procedure related mortality from CSF leak/meningitis.The mean of the tumor diameter of the earlier patients was less than that of the latter (3.84 vs 4.40 cm, p = 0.04,). The latter group also had more gross or near total resections (26.8% versus 41.5%) but this was not statistically significant. There was no difference in postoperative complications. ConclusionsEEA remains a veritable option for PitNETs, including for large and huge tumors, even within resource challenged environments, with acceptable limits of complications.

Prognostic predictors of remission in ocular myasthenia gravis.

Ocular myasthenia gravis (OMG) constitutes 15% of all myasthenia gravis patients. One hundred eight patients with OMG followed-up for over 36months were retrospectively evaluated regarding factors associated with remission. Demographic features, neuro-ophthalmologic findings at onset, acetylcholine receptor (AChR Ab) and muscle-specifc tyrosine kinase antibodies (MuSK Ab), thymic status, single fiber electromyography (SFEMG) results were the variables considered. Median age of disease onset was 57years (range 18-82years). Clinical features at onset was isolated ptosis in 55 (50.9%) and isolated diplopia in 33 (30.6%) patients. Combined ptosis and diplopia were present in 20 (18.5%) patients. Among 75 patients with ptosis, it was unilateral in 65 (86.7%) and bilateral in 10 (13.3%). AChR Abs were found in 66 (61.1%) and MuSK Abs in 2 (1.9%) patients. SFEMG abnormality was detected in 74 (68.5%) patients. Thymoma was present in 16 (14.8%) and thymic hyperplasia in 6 (5.6%) patients. Forty-one patients (37.9%) had been treated with pyridostigmine alone. Sixty-seven (62%) patients were given immunosupressive drugs. In 53 (49.1%) prednisone was used and in 14 (12.9%) patients it was combined with azathioprine. Thymectomy was performed in all 16 patients with thymoma. Complete stable remission (CSR) was achieved in 49 (45.4%) patients. Fifty-nine (54.6%) patients had reached minimal manifestation (MM) status; 32 (29.6%) having a status of MM-1 and 27 (25%) a status of MM-3. The presence of AchR Abs (p = 0.034) and an abnormal SFEMG (p = 0.006) at onset as increased risk factors for the presence of ongoing signs necessitating medical treatment.

Ocular symptoms in cerebellitis caused by COVID-19 : Cerebellitis, aless noticed disease with neuro-ophthalmological findings

Das Krankheitsbild der akuten Cerebellitis wurde in den letzten Jahren zunehmend beachtet. Zwei unterschiedliche Verläufe wurden beobachtet: Eine milde Verlaufsform mit leichten ataktischen Störungen (als postinfektiöse, selbstlimitierende Krankheit) und eine fulminante Verlaufsform der Cerebellitis, bei der das vergrößerte Kleinhirn den Aquaeductus Sylvii komprimiert und zu einer intrakraniellen Drucksteigerung mit einem obstruktiven Hydrozephalus und zu einer Hernienbildung der Kleinhirntonsillen im Foramen magnum führt. Dabei kann der Verlauf bei zu späten neurochirurgischen Sofortmaßnahmen letal sein. Eine Cerebellitis wurde als Folge einer Virusinfektion und durch autoimmun hervorgerufene Entzündungen beobachtet. Zahlreiche Mitteilungen befassten sich mit einer Cerebellitis bei Kindern, seltener bei Erwachsenen. An neuroophthalmologischen Befunden wurden häufig Nystagmus (horizontaler Blickrichtungsnystagmus, Vertikalnystagmus, „Down-beat“-Nystagmus, periodisch alternierender Nystagmus), Stauungspapillen, seltener Abduzens- oder Fazialisparese, Photophobie, sehr selten ein Opsoklonus-Myoklonus-Syndrom beschrieben. Wiederholt wurde eine Cerebellitis mit neuroophthalmologischen Befunden während der COVID-19-Pandemie bei Erwachsenen mitgeteilt.

Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature

Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical manifestations may include diabetes insipidus, urological, neurological, and psychiatric abnormalities. We review systemic and ocular manifestations of WS as well as its pathophysiology, diagnostic approach, and treatment options. We then describe a case series of 5 patients (ages 15–38, 60% male) with WS. All had significant progressive visual loss. 3/5 patients had type 1 DM and 4/5 had hearing loss. Other neuro-ophthalmological findings included convergence impairment and end-gaze nystagmus. This case series highlights the variability in clinical presentations of patients with WS, reminding clinicians to maintain high suspicion for this diagnosis in order to allow for prompt diagnosis and genetic counselling for patients and their families.

Quality of Life in Patients with Idiopathic Intracranial Hypertension and the Impact of the COVID-19 Pandemic

ABSTRACT The COVID-19 pandemic became a challenge to maintain care for patients with idiopathic intracranial hypertension (IIH). We aimed to find out how they were affected during lockdown. Thirty IIH patients admitted to hospital during the COVID-19 pandemic were studied. Their demographic and neuro-ophthalmological findings were evaluated. The World Health Organization – Five Well-Being Index (WHO-5), the EUROHIS Quality of Life (QOL) 8-item index, National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25), Headache Impact Test (HIT-6), and COVID-19 Fear Scale were used to assess QOL and pandemic-associated fear. Thirty age, sex, and body mass index matched volunteers constituted the control group. Apart from the COVID-19 Fear Scale and colour vision subscale of the NEI-VFQ-25, all scale scores were worse in IIH patients than in healthy control subjects. Patients with severe visual field defects had higher HIT-6 scores (p = .036). Both vision-specific and overall QOL was reduced in patients with IIH. Headache severity and disability were more prominent in patients with severe visual loss. Fear caused by the COVID pandemic was not different in IIH patients than in healthy control subjects.

A case of ocular neurosyphilis in a patient with HIV

A case of ocular neurosyphilis in a patient with HIV

Etiological Factors in Pediatric Pseudotumor Cerebri Cases

Objective: Pseudotumor cerebri (PTC) is the presence of the signs and symptoms of intracranial pressure increase in the absence of a tumoral, structural or vascular mass-occupying lesion. This study aimed to investigate the etiological factors involved in childhood PTC cases.Methods: Data of the patients presented to the Private Medical Park Samsun Hospital, pediatric neurology outpatient clinic with the preliminary diagnosis of PTC between June 2015 and December 2020 were retrospectively reviewed. Demographic data, presentation symptoms, neuro-ophthalmological examination findings, laboratory data, and radiological imaging (brain magnetic resonance imaging, magnetic resonance venography) findings. The female (i.e., Group 1) and male (i.e., Group 2) children were compared concerning the etiological factors.Results: The study cohort included 45 patients. There were 24 patients in Group 1 (i.e., female children) and 21 patients in Group 2 (i.e., male children). Among the 45 patients, 41 (91.1%) had an overt etiological factor. Mean age of the study patients were 9.06 year [2,5 months-18 years]. The most common symptom was headache (64.4%). Two groups were similar concerning mean patient age, pubertal stage, and rates of vitamin B12 deficiency, iron deficiency anemia, vitamin D deficiency, abnormal brain magnetic resonance imaging, and magnetic resonance venography findings. However, the obesity rate was significantly higher in Group 2 than Group 1 (32,7% vs. 12,5%, p<0.05). Conclusion: A thorough investigation concerning etiology is crucial in pediatric PTC cases regardless of patient gender. Timely investigations regarding etiology will lead to timely treatment of this clinical condition and prevent irreversible devastating complications such as permanent hearing loss.

Diagnosis of Acute Promyelocytic Leukemia After Presentation to Neuro-Ophthalmology.

Acute promyelocytic leukemia (APML) is a medical emergency that can initially present with neuro-ophthalmologic signs. Early recognition is crucial, and immediate treatment with all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) can be life-saving. The goal of this study was to describe patients who first presented to neuro-ophthalmology and were subsequently diagnosed with APML. We retrospectively reviewed consecutive patients seen at a tertiary neuro-ophthalmology centre. Patients with an unknown diagnosis of APML at presentation who subsequently went on to receive this diagnosis were included. Clinical characteristics, neuro-ophthalmologic findings, and outcome were retrieved. A total of 3 patients (2 women and 1 men) with a mean age of 30.7 (range 24-33) years were included in the study. Neuro-ophthalmologic diagnoses at presentation were severe hemorrhagic papilledema related to dural venous sinus thrombosis, hemorrhagic bilateral optic disc edema, and left homonymous hemianopia related to an occipital lobe hemorrhage. At diagnosis, the average hemoglobin was 83.7g/L (range 78-104), and the platelet count was 39.3 × 109/L (range 15-77). All patients were treated with ATRA and ATO. One patient developed papilledema and sixth nerve palsies related to this treatment, which resolved with acetazolamide. Clinical follow-up ranged from 6 to 12 months, and all patients were in clinical remission about systemic APML. Neuro-ophthalmologic symptoms may be the first manifestations of APML, and a complete blood count is an essential test in patients presenting with optic disc edema, especially if hemorrhagic.

Clinical improvement in indirect carotid cavernous fistulas treated endovascularly: A patient based review

Patients with indirect carotid cavernous fistulas (CCF) were reviewed to emphasize the importance of diagnosing patients even with trivial findings and to raise awareness. Eighteen patients diagnosed as CCF were included. Neuro-ophthalmological findings before and after treatment, diagnostic investigations, treatment, clinical course was noted. Twelve patients were female (67%), 6 were males (33%) and the mean age at presentation was 54 years (range: 29–70 years). Conjunctival hyperemia was present in all patients. Seventeen (94%) patients had proptosis and diplopia, nine (50%) had orbital pain and/or headache, four (22%) had blurred vision, one (5.5%) had ptosis. On examination, 17 patients (94%) had restricted eye movements, four (22%) had low visual acuity and five patients had (28%) increased intraocular pressure (IOP). One patient had been diagnosed as myasthenia gravis and two as thyroid orbitopathy and had been on treatment accordingly before CCF was diagnosed. In two patients, bilateral findings were present despite unilateral CCF on angiography. Barrow Type B fistula was found in 7 (38%), Barrow Type D in 11 (62%) patients. In three bilateral CCF was detected. All were treated by endovascular intervention. Residual deficits at the sixth month control were, eye movement deficits in seven (39%), decrease in visual acuity in one (5.5%) and elevated IOP in one (5.5%) patient. Indirect CCF patients generally present with mild symptoms and the diagnosis may be overlooked. Mild progressive ophthalmoparesis with conjunctival hyperemia must be warning. Though rare bilateral CCF can be detected as well as unilateral CCF with bilateral findings.

Ophthalmic Manifestations of Neurologic, Rheumatologic, and Infectious Diseases in the Context of the novel Coronavirus Disease 2019 Pandemic: A Case Series

The novel Coronavirus Disease 2019 (COVID-19) is known to present with a broad range of clinical manifestations. While symptoms such as fever, cough, dyspnea, myalgias, diarrhea, anosmia, and ageusia predominate, less common manifestations involving multiple systems have also been described. Some reported ocular manifestations include symptoms associated with keratoconjunctivitis, such as chemosis, ocular pain, photophobia, dry eye and tearing [1]. Neurological symptoms in addition to smell and taste dysfunction have been commonly described as well, and include headache, ataxia, dizziness, altered level of consciousness, and stroke [2]. Whether these neuro-ophthalmologic findings reflect direct involvement of these systems or a more generalized response to SARS-CoV-2 infection remains uncertain. Many other neurologic, rheumatologic, and infectious diseases also present with similar clinical findings as those described in COVID-19, further complicating the diagnostic picture. In this case series, we examine several patients presenting with unusual neuro-ophthalmological manifestations and discuss similarities of these findings with those seen in SARS-CoV-2 infection, and review current literature describing possible mechanisms underlying similar findings in patients with confirmed COVID-19.

Neuro-Ophthalmologic Hurdles in Whole-Eye Transplantation

Anatomical and functional successes have extended into the field of vascularized composite allotransplantation. However, the goal of whole-eye transplantation continues as an unfinished effort, primarily because of difficulties accomplishing optic nerve repair and regeneration. This review provides a summary of neuro-ophthalmological findings regarding eye donors and recipients, based on ocular function in donors and neurophysiological events known to occur in blind people. Experimental advances regarding regeneration of the optic nerve in lower mammals have demonstrated anatomical success, but little is known regarding functional capacity. Modern imaging and functional studies in patients with brain death and patients with blindness have provided useful information concerning possible scenarios in whole-eye transplantation. Some questions remain regarding the functionality of an eye in a hypothetical donor, as well as the ability of the recipient’s visual pathway to perform adequately. A multidisciplinary approach, involving both clinical and basic research, is necessary to address the challenges of whole-eye transplantation.

Characterization of Ebola Virus–Associated Eye Disease

Survivors of Ebola virus disease (EVD) may experience ocular sequelae. Comparison with antibody-negative individuals from the local population is required to characterize the disease. To assess features of ophthalmic disease specific to EVD. This baseline cross-sectional analysis of survivors of EVD and their close contacts was conducted within PREVAIL III, a 5-year, longitudinal cohort study. Participants who enrolled at John F. Kennedy Medical Center in Liberia, West Africa from June 2015 to March 2016 were included in this analysis. Close contacts were defined as household members or sex partners of survivors of EVD. Data were analyzed from July 2016 to July 2020. All participants, both survivors and close contacts, underwent testing of IgG antibody levels against Ebola virus surface glycoprotein. Ocular symptoms, anterior and posterior ophthalmologic examination findings, and optical coherence tomography images were compared between antibody-positive survivors and antibody-negative close contacts. A total of 564 antibody-positive survivors (320 [56.7%] female; mean [SD] age, 30.3 [14.0] years) and 635 antibody-negative close contacts (347 [54.6%] female; mean [SD] age, 25.8 [15.5] years) were enrolled in this study. Survivors were more likely to demonstrate color vision deficit (28.9% vs 19.0%, odds ratio [OR], 1.6; 95% CI, 1.2-2.1) and lower intraocular pressure (12.4 vs 13.5 mm Hg; mean difference, -1.2 mm Hg; 95% CI, -1.6 to -0.8 mm Hg) compared with close contacts. Dilated fundus examination revealed a higher percentage of vitreous cells (7.8% vs 0.5%; OR, 16.6; 95% CI, 5.0-55.2) and macular scars (4.6% vs 1.6%; OR, 2.8; 95% CI, 1.4-5.5) in survivors than in close contacts. Uveitis was present in 26.4% of survivors and 12.1% of close contacts (OR, 2.4; 95% CI, 1.8-3.2). Among all participants with uveitis, survivors were more likely than close contacts to have intermediate uveitis (34.2% vs 6.5% of all cases; OR, 7.8; 95% CI, 3.1-19.7) and had thicker mean central subfield thickness on optical coherence tomography (222 vs 212 μm; mean difference, 14.4 μm; 95% CI, 1.9-26.9 μm). In this cross-sectional study, survivors of EVD had a distinct spectrum of ocular and neuro-ophthalmologic findings compared with close contacts that potentially require medical and surgical treatment.

Ophthalmologic manifestations in myasthenia gravis: presentation and prognosis.

We investigated the ophthalmologic manifestations and factors that influence outcomes in patients with myasthenia gravis (MG). We retrospectively analyzed the prevalence of neuro-ophthalmologic findings and clinical and outcome measures of 100 consecutive patients (53 males, 47 females), aged 55.7 ± 17.5 (range 15-85) years with an established diagnosis of MG. Forty-eight patients had purely ocular symptoms at the onset of disease (OMG) and 52 patients presented with generalized symptoms (GMG). Overall, 21 patients presented with extraocular muscle (EOM) weakness. Bilateral EOM weakness was seen in 12 patients, and unilateral EOM weakness was seen in nine patients. Diplopia responded partially to immunosuppressive treatments in 60% of patients with ophthalmoparesis. Twenty-five (52.1%) patients with ocular-onset MG converted to secondary GMG at a mean time of 14.5months. Patients who developed secondary GMG were younger and had an earlier age of disease onset when compared with patients with pure OMG (p < 0.05). Patients with secondary GMG presented more frequently with ptosis and diplopia (72% vs. 28%) compared with patients with pure ocular MG who presented more frequently with isolated ptosis (66.7% vs. 33.3%) (p = 0.02). Remission and minimal manifestation status were achieved in 50 (79.3%) of all patients with a clinical follow-up ≥ 3years. Poor outcome was associated with the presence of thymoma (p < 0.05). Myasthenic ophthalmoparesis is bilateral and heterogeneous and partly responds to treatment with immunotherapy. Younger patients with ptosis and diplopia at disease onset had an increased risk of secondary GMG. The presence of thymoma increases the risk for poor prognosis.

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review

The clinical phenotype of Gaucher disease type 3 (GD3), a neuronopathic lysosomal storage disorder, encompasses a wide array of neurological manifestations including neuro-ophthalmological findings, developmental delay, and seizures including progressive myoclonic epilepsy. Electroencephalography (EEG) is a widely available tool used to identify abnormalities in cerebral function, as well as epileptiform abnormalities indicating an increased risk of seizures. We characterized the EEG findings in GD3, reviewing 67 patients with 293 EEGs collected over nearly 50 years. Over 93% of patients had some form of EEG abnormality, most consisting of background slowing (90%), followed by interictal epileptiform discharges (IEDs) (54%), and photoparoxysmal responses (25%). The seven patients without background slowing were all under age 14 (mean 6.7 years). There was a history of seizures in 37% of this cohort; only 30% of these had IEDs on EEG. Conversely, only 56% of patients with IEDs had a history of seizures. These observed EEG abnormalities document an important aspect of the natural history of GD3 and could potentially assist in identifying neurological involvement in a patient with subtle clinical findings. Additionally, this comprehensive description of longitudinal EEG data provides essential baseline data for understanding central nervous system involvement in neuronopathic GD.

Single-suture craniosynostosis: is there a correlation between preoperative ophthalmological, neuroradiological, and neurocognitive findings?

In spite of literature data stating that children with single-suture craniosynostosis have an increased risk for neuropsychological deficits, no data are present clarifying the potential risk factors. All children with non-syndromic single-suture craniosynostosis operated on from January 2014 to January 2017 were enrolled. A comprehensive neurocognitive and neuro-ophthalmological evaluation was performed before surgery and 6months after surgery. A further neurocognitive evaluation was performed 12months after surgery. All children had a preoperative CT/MR study. One hundred forty-two patients were enrolled; 87 are affected by sagittal craniosynostosis, 38 by trigonocephaly, and 17 by plagiocephaly. A global neurocognitive impairment was documented in 22/87 children with scaphocephaly, 5/38 children with trigonocephaly, and 6/17 children with anterior plagiocephaly. There was a significant relationship between results of the ophthalmological evaluation, global IQ, and CT findings at diagnosis (r= 0.296, p< 0.001; r=0.187, p 0.05). Though a significant recovery was documented after surgery, a persistence of eye coordination deficits was present at 6months in 1 out of 3 children with abnormal preoperative exams. A significant correlation was found between pathological CT findings and persistence of below average neuro-ophthalmological and neurocognitive findings 6months after surgery, as well as between CT findings and neurocognitive scores at the 1year follow-up (r= 0.411; p< 0.01). The presence of neuroradiological abnormalities appears to be related to both ophthalmological and neurocognitive deficits at diagnosis. This relationship is maintained in spite of the surgical treatment in children who show the persistence of ophthalmological and neurocognitive deficits during the follow-up.