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CANCEL
COVID-2019 Alert

The latest information about the 2019 Novel Coronavirus, including vaccine clinics for children ages 5 years old and older.

La información más reciente sobre el nuevo Coronavirus de 2019, incluidas las clínicas de vacunación para niños de 5 años en adelante.

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Shannon Beres, MD

  • “I have a lot of energy, which I funnel into being an advocate for each family I see.”

My mother was a special education teacher, so I grew up with a model of helping others. In high school I worked with children with disabilities and was a mentor for them, which inspired me to become a doctor.

I chose child neurology because I was interested in helping children with special needs, and was inspired by the family dynamics created when there's a child that has special needs.

Diseases that involve the brain can be very alarming to a family, but with additional teaching and describing how the brain works I help families understand their child's condition. I take a family-centered approach to care and believe in making decisions and developing a management plan together as a team.

I have a lot of energy, which I funnel into being an advocate for each family I see. I spend a lot of extra time going the extra mile, whether that's further diagnostic workup or making sure their care plan is fully executed. I am here for each family every step of the way.

Specialties

Ophthalmology

Neurology - Child Neurology

Work and Education

Professional Education

Virginia Commonwealth University School of Medicine Registrar, Richmond, VA, 6/15/2009

Internship

UCSF Pediatric Residency, San Francisco, CA, 8/28/2011

Residency

UCSF Child Neurology Residency, San Francisco, CA, 8/31/2014

Fellowship

University of Pennsylvania Ophthalmology Fellowships, Philadelphia, PA, 7/31/2015

Board Certifications

Neurology - Child Neurology, American Board of Psychiatry and Neurology

Conditions Treated

3rd 4th 6th Nerve Palsies

Brain Trauma

Brain Tumors

Cancer-Related Optic Nerve Swelling

Epilepsy Surgery

Eye Movement Abnormalities

Idiopathic Intracranial Hypertension

Myasthenia Gravis

Nystagmus

Optic Disc Atrophy

Optic Nerve Abnormalities

Optic Neuritis

Optic Neuropathy

Optic Pathway Gliomas

Papilledema

Pseudotumor Cerebri Syndrome

Septo-Optic Dysplasia

Stroke

Visual Field Defects

All Publications

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial LANCET NEUROLOGY Mercuri, E., Deconinck, N., Mazzone, E. S., Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, G., Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W., Martin, C., Fontoura, P., Day, J. W., SUNFISH Study Grp 2022; 21 (1): 42-52
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. The Lancet. Neurology Mercuri, E., Deconinck, N., Mazzone, E. S., Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, G., Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W. Y., Martin, C., Fontoura, P., Day, J. W., SUNFISH Study Group, Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Fuerst-Recktenwald, S., Marquet, A., Mulhardt, N., Trundell, D., Daron, A., Delstanche, S., Romain, B., Dal Farra, F., Schneider, O., Deconinck, N., Balikova, I., Delbeke, P., Joniau, I., Tahon, V., Wittevrongel, S., De Vos, E., Goemans, N., Casteels, I., De Waele, L., Balikova, I., Cassiman, C., Prove, L., Kinoo, D., Vancampenhout, L., Van Den Hauwe, M., Van Impe, A., Prufer de Queiroz Campos Araujo, A., Chacon Pereira, A., Nardes, F., Haefeli, L., Rossetto, J., Almeida Pereira, J., Ferreira Rebel, M., Campbell, C., Sharan, S., McDonald, W., Scholtes, C., Mah, J., Sframeli, M., Chiu, A., Hagel, J., Oskoui, M., Beneish, R., Pham, C., Toffoli, D., Arpin, S., Turgeon Desilets, S., Wang, Y., Hu, C., Huang, J., Qian, C., Shen, L., Xiao, Y., Zhou, Z., Li, H., Wang, S., Xiong, H., Chang, X., Dong, H., Liu, Y., Sang, T., Wei, C., Wen, J., Cao, Y., Lv, X., Wen, J., Zhao, J., Li, W., Qin, L., Barisic, N., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Servais, L., Boespflug-Tanguy, O., Gidaro, T., Seferian, A., De Lucia, S., Barreau, E., Mnafek, N., Momtchilova, M. M., Peche, H., Valherie, C., Grange, A., Lilien, C., Milascevic, D., Tachibana, S., Ravelli, C., Cardas, R., Vanden Brande, L., Davion, J., Coopman, S., Bouacha, I., Debruyne, P., Defoort, S., Derlyn, G., Leroy, F., Danjoux, L., Guilbaud, J., Desguerre, I., Barnerias, C., Semeraro, M., Bremond-Gignac, D., Bruere, L., Rateaux, M., Deladriere, E., Germa, V., Pereon, Y., Magot, A., Mercie, S., Billaud, F., Le Goff, L., Letellier, G., Vuillerot, C., Portefaix, A., Fontaine, S., De-Montferrand, C., Le-Goff, L., Saidi, M., Bouzid, N., Barriere, A., Tinat, M., Saidi, M., Kirschner, J., Dreesbach, M., Lagreze, W., Michaelis, B., Molnar, F., Seger, D., Vogt, S., Bertini, E., D'Amico, A., Petroni, S., Bonetti, A. M., Carlesi, A., Mizzoni, I., Bruno, C., Priolo, E., Rao, G., Morando, S., Tacchetti, P., Zuffi, A., Comi, G. P., Brusa, R., Corti, S., Daniele, V., Govoni, A., Magri, F., Minorini, V., Osnaghi, S. G., Abbati, F., Fassini, F., Foa, M., Lopopolo, A., Meneri, M., Zoppas, F., Parente, V., Baranello, G., Masson, R., Bianchi Marzoli, S., Santarsiero, D., Garcia Sierra, M., Tremolada, G., Arnoldi, M. T., Vigano, M., Zanin, R., Mercuri, E., Amorelli, G. M., Barresi, C., D'Amico, G., Orazi, L., Coratti, G., Haginoya, K., Kato, A., Morishita, Y., Kira, R., Akiyama, K., Goto, M., Mori, Y., Okamoto, M., Tsutsui, S., Takatsuji, Y., Tanaka, A., Komaki, H., Suzuki, I., Takeuchi, M., Todoroki, D., Watanabe, S., Omori, M., Matsubayashi, T., Inakazu, E., Nagura, H., Suzuki, A., Osaka, H., Ohashi, M., Ishikawa, N., Harada, Y., Fudeyasu, K., Hirata, K., Michiue, K., Ueda, K., Saito, K., Yashiro, S., Seki, M., Sano, N., Uemura, A., Fukuyama, K., Matsumoto, Y., Miyazaki, H., Shibata, M., Kobayashi, K., Nakamura, Y., Takeshima, Y., Kuma, M., Kostera-Pruszczyk, A., Fraczek, A., Jedrzejowska, M., Lusakowska, A., Czeszyk-Piotrowicz, A., Hautz, W., Rakusiewicz, K., Burlewicz, M., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Mazurkiewicz-Beldzinska, M., Lemska, A., Modrzejewska, S., Koberda, M., Stodolska-Koberda, U., Waskowska, A., Kolendo, J., Sobierajska-Rek, A., Steinborn, B., Dalz, M., Grabowska, J., Hajduk, W., Janasiewicz-Karachitos, J., Klimas, M., Stopa, M., Gajewska, E., Pusz, B., Vlodavets, D., Melnik, E., Leppenen, N., Yupatova, N., Monakhova, A., Papina, Y., Shidlovsckaia, O., Milic Rasic, V., Brankovic, V., Kosac, A., Djokic, O., Jaksic, V., Pepic, A., Martinovic, J., Munell Casadesus, F., Tizzano, E., Martin Begue, N., Wolley Dod, C., Subira, O., Planas Pascual, B., Toro Tamargo, E., Madruga Garrido, M., Medina Romero, J. D., Salinas, M. P., Nascimento Osorio, A., Diaz Cortes, A., Jimenez Ganan, E., Suh, S. D., Medina Cantillo, J., Moya, O., Padros, N., Roca Urraca, S., Gonzalez Valdivia, H., Pascual Pascual, S., de Manuel, S., Noval Martin, S., Burnham, P., Espinosa Garcia, S., Martinez Moreno, M., Topaloglu, H., Oncel, I., Eroglu Ertugrul, N., Konuskan, B., Eldem, B., Kadayifcilar, S., Alemdaroglu, I., Ayse Karaduman, A., Tunca Yilmaz, O., Bilgin, N., Sari, S., Chiriboga, C., Kane, S., Lee, J., Rome-Martin, D., Day, J. W., Beres, S., Duong, T., Gee, R., Dunaway Young, S. 1800; 21 (1): 42-52

Abstract

BACKGROUND: Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN. We aimed to investigate the safety and efficacy of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy.METHODS: In this phase 3, randomised, double-blind, placebo-controlled study, patients aged 2-25 years with confirmed 5q autosomal recessive type 2 or type 3 spinal muscular atrophy were recruited from 42 hospitals in 14 countries across Europe, North America, South America, and Asia. Participants were eligible if they were non-ambulant, could sit independently, and had a score of at least 2 in entry item A of the Revised Upper Limb Module. Patients were stratified by age and randomly assigned (2:1) to receive either daily oral risdiplam, at a dose of 500 mg (for individuals weighing 20 kg) or 025 mg/kg (for individuals weighing <20 kg), or daily oral placebo (matched to risdiplam in colour and taste). Randomisation was conducted by permutated block randomisation with a computerised system run by an external party. Patients, investigators, and all individuals in direct contact with patients were masked to treatment assignment. The primary endpoint was the change from baseline in the 32-item Motor Function Measure total score at month 12. All individuals who were randomly assigned to risdiplam or placebo, and who did not meet the prespecified missing item criteria for exclusion, were included in the primary efficacy analysis. Individuals who received at least one dose of risdiplam or placebo were included in the safety analysis. SUNFISH is registered with ClinicalTrials.gov, NCT02908685. Recruitment is closed; the study is ongoing.FINDINGS: Between Oct 9, 2017, and Sept 4, 2018, 180 patients were randomly assigned to receive risdiplam (n=120) or placebo (n=60). For analysis of the primary endpoint, 115 patients from the risdiplam group and 59 patients from the placebo group were included. At month 12, the least squares mean change from baseline in 32-item Motor Function Measure was 136 (95% CI 061 to 211) in the risdiplam group and -019 (-122 to 084) in the placebo group, with a treatment difference of 155 (030 to 281, p=0016) in favour of risdiplam. 120 patients who received risdiplam and 60 who received placebo were included in safety analyses. Adverse events that were reported in at least 5% more patients who received risdiplam than those who received placebo were pyrexia (25 [21%] of 120 patients who received risdiplam vs ten [17%] of 60 patients who received placebo), diarrhoea (20 [17%] vs five [8%]), rash (20 [17%] vs one [2%]), mouth and aphthous ulcers (eight [7%] vs 0), urinary tract infection (eight [7%] vs 0), and arthralgias (six [5%] vs 0). The incidence of serious adverse events was similar between treatment groups (24 [20%] of 120 patients in the risdiplam group; 11 [18%] of 60 patients in the placebo group), with the exception of pneumonia (nine [8%] in the risdiplam group; one [2%] in the placebo group).INTERPRETATION: Risdiplam resulted in a significant improvement in motor function compared with placebo in patients aged 2-25 years with type 2 or non-ambulant type 3 spinal muscular atrophy. Our exploratory subgroup analyses showed that motor function was generally improved in younger individuals and stabilised in older individuals, which requires confirmation in further studies. SUNFISH part 2 is ongoing and will provide additional evidence regarding the long-term safety and efficacy of risdiplam.FUNDING: F Hoffmann-La Roche.

View details for DOI 10.1016/S1474-4422(21)00367-7

View details for PubMedID 34942136

Case Series: Atypical Optic Neuritis After COVID-19 Vaccination. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society Tugizova, M., Siegel, D. T., Huang, S., Su, E., Subramanian, P. S., Beres, S., Vora, N. 2022

View details for DOI 10.1097/WNO.0000000000001519

View details for PubMedID 35020705

Optic chiasm involvement in AQP-4 antibody-positive NMO and MOG antibody-associated disorder. Multiple sclerosis (Houndmills, Basingstoke, England) Tajfirouz, D., Padungkiatsagul, T., Beres, S., Moss, H. E., Pittock, S., Flanagan, E., Kunchok, A., Shah, S., Bhatti, M. T., Chen, J. J. 2021: 13524585211011450

Abstract

BACKGROUND: Optic neuritis (ON) is often the presenting symptom in inflammatory central nervous system demyelinating disorders.OBJECTIVE: To compare the frequency and pattern of optic chiasm involvement in patients with aquaporin-4-immunoglobulin G (AQP4-IgG)-associated ON to patients with myelin oligodendrocyte glycoprotein-immunoglobulin G (MOG-IgG)-associated ON.METHODS: Retrospective review of all patients evaluated at Mayo Clinic, Stanford University and Ramathibodi Hospital who were found to have: (1) ON, (2) either MOG-IgG or AQP4-IgG by cell-based assay, and (3) magnetic resonance imaging (MRI) at the time of ON. MRI was reviewed for contrast enhancement of the optic chiasm and the pattern of involvement.RESULTS: One hundred and fifty-four patients (74 AQP4-IgG and 80 MOG-IgG) were included. Among patients with AQP4-IgG-ON, 20% had chiasmal involvement, compared with 16% of patients with MOG-IgG-ON (p = 0.66). In patients with chiasmal involvement, longitudinally extensive optic nerve enhancement (from orbit extending to chiasm) was identified in 54% of MOG-IgG-ON patients, compared with 7% of AQP4-IgG-ON patients (p = 0.01).CONCLUSION: Chiasmal involvement of MOG-IgG-ON and AQP4-IgG-ON occur at more similar frequencies than previously reported. Furthermore, MOG-IgG-ON chiasmal involvement is more likely to be part of a longitudinally extensive optic nerve lesion.

View details for DOI 10.1177/13524585211011450

View details for PubMedID 33975499

Risdiplam in Type 1 Spinal Muscular Atrophy. The New England journal of medicine Baranello, G. n., Darras, B. T., Day, J. W., Deconinck, N. n., Klein, A. n., Masson, R. n., Mercuri, E. n., Rose, K. n., El-Khairi, M. n., Gerber, M. n., Gorni, K. n., Khwaja, O. n., Kletzl, H. n., Scalco, R. S., Seabrook, T. n., Fontoura, P. n., Servais, L. n. 2021

Abstract

Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein.We report the results of part 1 of a two-part, phase 2-3, open-label study of risdiplam in infants 1 to 7 months of age who had type 1 spinal muscular atrophy, which is characterized by the infant not attaining the ability to sit without support. Primary outcomes were safety, pharmacokinetics, pharmacodynamics (including the blood SMN protein concentration), and the selection of the risdiplam dose for part 2 of the study. Exploratory outcomes included the ability to sit without support for at least 5 seconds.A total of 21 infants were enrolled. Four infants were in a low-dose cohort and were treated with a final dose at month 12 of 0.08 mg of risdiplam per kilogram of body weight per day, and 17 were in a high-dose cohort and were treated with a final dose at month 12 of 0.2 mg per kilogram per day. The baseline median SMN protein concentrations in blood were 1.31 ng per milliliter in the low-dose cohort and 2.54 ng per milliliter in the high-dose cohort; at 12 months, the median values increased to 3.05 ng per milliliter and 5.66 ng per milliliter, respectively, which represented a median of 3.0 times and 1.9 times the baseline values in the low-dose and high-dose cohorts, respectively. Serious adverse events included pneumonia, respiratory tract infection, and acute respiratory failure. At the time of this publication, 4 infants had died of respiratory complications. Seven infants in the high-dose cohort and no infants in the low-dose cohort were able to sit without support for at least 5 seconds. The higher dose of risdiplam (0.2 mg per kilogram per day) was selected for part 2 of the study.In infants with type 1 spinal muscular atrophy, treatment with oral risdiplam led to an increased expression of functional SMN protein in the blood. (Funded by F. Hoffmann-La Roche; ClinicalTrials.gov number, NCT02913482.).

View details for DOI 10.1056/NEJMoa2009965

View details for PubMedID 33626251

Microphthalmia and orbital cysts in DiGeorge syndrome. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus Chandramohan, A., Sears, C. M., Huang, L. C., Beres, S., Fredrick, D., Kossler, A. L. 2021

View details for DOI 10.1016/j.jaapos.2021.06.001

View details for PubMedID 34597781

Feasibility and acceptability of virtually coaching residents on communication skills: a pilot study. BMC medical education Sasnal, M., Miller-Kuhlmann, R., Merrell, S. B., Beres, S., Kipp, L., Lee, S., Threlkeld, Z., Nassar, A. K., Gold, C. A. 2021; 21 (1): 513

Abstract

Developing communication skills is a key competency for residents. Coaching, broadly accepted as a training modality in medical education, has been proven a successful tool for teaching communication skills. Little research is available thus far to investigate virtual coaching on communication skills for telemedicine encounters. The purpose of the study was to test the hypothesis that virtually coaching residents on communication skills is feasible and acceptable. We surveyed 21 resident-faculty pairs participating in a "fully virtual" coaching session (patient, coach, and resident were virtual).We asked 50 neurology resident-faculty coach pairs to complete one "fully virtual" coaching session between May 20 and August 31, 2020. After each session, the resident and coach completed a 15-item survey, including Likert-style scale and open-ended questions, assessing feasibility and acceptability. Descriptive statistics and qualitative content and thematic analyses were performed.Forty-two percent (21/50) of all eligible residents completed "fully virtual" coaching sessions. The overall survey response rate was 91% (38/42). The majority of respondents agreed that the direct observation and debriefing conversation were easy to schedule and occurred without technical difficulties and that debriefing elements (self-reflection, feedback, takeaways) were useful for residents. Ninety-five percent of respondents rated the coach's virtual presence to be not at all disruptive to the resident-patient interaction. Virtual coaching alleviated resident stress associated with observation and was perceived as an opportunity for immediate feedback and a unique approach for resident education that will persist into the future.In this pilot study, residents and faculty coaches found virtual coaching on communication skills feasible and acceptable for telemedicine encounters. Many elements of our intervention may be adoptable by other residency programs. For example, residents may share their communication goals with clinic faculty supervisors and then invite them to directly observe virtual encounters what could facilitate targeted feedback related to the resident's goals. Moreover, virtual coaching on communication skills in both the in-person and telemedicine settings may particularly benefit residents in challenging encounters such as those with cognitively impaired patients or with surrogate decision-makers.

View details for DOI 10.1186/s12909-021-02936-w

View details for PubMedID 34583691

ENROLLMENT AND CLINICAL CHARACTERISTICS OF NEWLY DIAGNOSED, NEUROFIBROMATOSIS TYPE 1 ASSOCIATED OPTIC PATHWAY GLIOMA (NF1-OPG): PRELIMINARY RESULTS FROM AN INTERNATIONAL MULTI-CENTER NATURAL HISTORY STUDY Fisher, M. J., Liu, G. T., Ferner, R. E., Gutmann, D. H., Listernick, R., de Blank, P., Zeid, J., Ullrich, N. J., Heidary, G., Bornhorst, M., Stasheff, S. F., Rosser, T., Borchert, M., Ardern-Holmes, S., Flaherty, M., Hummel, T. R., Motley, W., Bielamowicz, K., Phillips, P. H., Bouffet, E., Reginald, A., Wolf, D. S., Peragallo, J., Van Mater, D., El-Dairi, M., Sato, A., Tarczy-Hornoch, K., Klesse, L., Hogan, N., Foreman, N., McCourt, E., Allen, J., Ranka, M., Campen, C., Beres, S., Moertel, C., Areaux, R., Stearns, D., Orge, F., Crawford, J., O'Halloran, H., Brodsky, M., Esbenshade, A. J., Donahue, S., Cutter, G., Avery, R. A. OXFORD UNIV PRESS INC. 2020: 419
Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy. Annals of clinical and translational neurology Sergott, R. C., Amorelli, G. M., Baranello, G., Barreau, E., Beres, S., Kane, S., Mercuri, E., Orazi, L., SantaMaria, M., Tremolada, G., Santarsiero, D., Waskowska, A., Yashiro, S., Denk, N., Furst-Recktenwald, S., Gerber, M., Gorni, K., Jaber, B., Jacobsen, B., Mueller, L., Nave, S., Scalco, R. S., Marzoli, S. B., FIREFISH, S. 2020

Abstract

OBJECTIVE: Evaluation of ophthalmologic safety with focus on retinal safety in patients with spinal muscular atrophy (SMA) treated with risdiplam (EVRYSDI), a survival of motor neuron 2 splicing modifier associated with retinal toxicity in monkeys. Risdiplam was approved recently for the treatment of patients with SMA, aged2months in the United States, and is currently under Health Authority review in the EU.METHODS: Subjects included patients with SMA aged 2months-60years enrolled in the FIREFISH, SUNFISH, and JEWELFISH clinical trials for risdiplam. Ophthalmologic assessments, including functional assessments (age-appropriate visual acuity and visual field) and imaging (spectral domain optical coherence tomography [SD-OCT], fundus photography, and fundus autofluorescence [FAF]), were conducted at baseline and every 2-6months depending on study and assessment. SD-OCT, FAF, fundus photography, and threshold perimetry were evaluated by an independent, masked reading center. Adverse events (AEs) were reported throughout the study.RESULTS: A total of 245 patients receiving risdiplam were assessed. Comprehensive, high-quality, ophthalmologic monitoring assessing retinal structure and visual function showed no retinal structural or functional changes. In the youngest patients, SD-OCT findings of normal retinal maturation were observed. AEs involving eye disorders were not suggestive of risdiplam-induced toxicity and resolved with ongoing treatment.INTERPRETATION: Extensive ophthalmologic monitoring conducted in studies in patients with SMA confirmed that risdiplam does not induce ophthalmologic toxicity in pediatric or adult patients with SMA at the therapeutic dose. These results suggest that safety ophthalmologic monitoring is not needed in patients receiving risdiplam, as also reflected in the United States Prescribing Information for risdiplam.

View details for DOI 10.1002/acn3.51239

View details for PubMedID 33231373

Video Teaching NeuroImages: Atypical abnormal eye movements in PNPO-related Epilepsy. Neurology Pavitt, S., Karamian, A. G., Chattree, G., Klotz, J., Beres, S. 2020

View details for DOI 10.1212/WNL.0000000000010861

View details for PubMedID 32913027

Cryopyrin-Associated Periodic Syndrome in Neuro-Ophthalmology. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society Harish Bindiganavile, S., Beres, S., Bhat, N., Lee, A. G. 2020

View details for DOI 10.1097/WNO.0000000000001080

View details for PubMedID 32868579

50 Years Ago in The Journal of Pediatrics: The Cause of Spasmus Nutans and Congenital Nystagmus: Frozen in Time. The Journal of pediatrics Beres, S. 2020; 223: 169

View details for DOI 10.1016/j.jpeds.2020.02.042

View details for PubMedID 32711744

The Cause of Spasmus Nutans and Congenital Nystagmus: Frozen in Time JOURNAL OF PEDIATRICS Beres, S. 2020; 223: 169-+
A Tearfully Painful Darkness. Survey of ophthalmology Leishangthem, L., Beres, S., Moss, H. E., Chen, J. 2020

Abstract

A 70-year-old woman presented with new onset of left eye and facial pain. Ophthalmic and neurological examinations, MRI brain, ESR and CRP were unrevealing. A few days later she developed vision loss in her left eye. Exam revealed decreased visual acuity with a relative afferent pupillary defect in the left eye, and a diffuse mild swelling of the left optic nerve head. Repeat MRI showed T2 hyperintensity and enhancement of the intraorbital optic nerve and surrounding tissues with no other intracranial abnormalities. Serum studies showed elevated myelin oligodendrocyte glycoprotein (MOG) IgG titer. She was treated with IV methylprednisolone 1000mg daily for 3 days and was discharged on prolonged prednisone taper with return of vision to baseline.

View details for DOI 10.1016/j.survophthal.2020.06.002

View details for PubMedID 32540257

Update in Pediatric Pseudotumor Cerebri Syndrome. Seminars in neurology Beres, S. J. 2020

Abstract

Pseudotumor cerebri syndrome (PTCS) is a rare condition in children presenting with headache and papilledema from increased intracranial pressure that can cause significant morbidity. This can be idiopathic, also known as idiopathic intracranial hypertension or primary intracranial hypertension, or can be secondary to medications and associated medical conditions. Given the threat to vision, early detection and treatment is needed in all age groups. However, identifying papilledema or pseudopapilledema in children presents unique challenges sometimes as a result of differences between prepubertal and postpubertal children, further elucidating the complex pathophysiology. Management requires brain imaging, lumbar puncture, and frequent eye exams with medical and rarely surgical treatment. Visual outcomes in children are favorable if caught early and management can be prolonged over years. Pediatric PTCS is different from adult PTCS in many ways, and this review will focus on the most updated definitions of the disease, theories of pathophysiology, management, and treatment in the pediatric population.

View details for DOI 10.1055/s-0040-1708847

View details for PubMedID 32422670

Atypical abnormal eye movements in PNPO-related epilepsy Pavitt, S., Karamian, A., Chattree, G., Klotz, J., Beres, S. LIPPINCOTT WILLIAMS & WILKINS. 2020
Steroid-sparing maintenance immunotherapy for MOG-IgG associated disorder. Neurology Chen, J. J., Flanagan, E. P., Bhatti, M. T., Jitprapaikulsan, J. n., Dubey, D. n., Lopez Chiriboga, A. S., Fryer, J. P., Weinshenker, B. G., McKeon, A. n., Tillema, J. M., Lennon, V. A., Lucchinetti, C. F., Kunchok, A. n., McClelland, C. M., Lee, M. S., Bennett, J. L., Pelak, V. S., Van Stavern, G. n., Adesina, O. O., Eggenberger, E. R., Acierno, M. D., Wingerchuk, D. M., Lam, B. L., Moss, H. n., Beres, S. n., Gilbert, A. L., Shah, V. n., Armstrong, G. n., Heidary, G. n., Cestari, D. M., Stiebel-Kalish, H. n., Pittock, S. J. 2020

Abstract

Myelin oligodendrocyte glycoprotein-immunoglobulin G (MOG-IgG) associated disorder (MOGAD) often manifests with recurrent CNS demyelinating attacks. The optimal treatment for reducing relapses is unknown. To help determine the efficacy of long-term immunotherapy in preventing relapse in patients with MOGAD, we conducted a multicenter retrospective study to determine the rate of relapses on various treatments.We determined the frequency of relapses in patients receiving various forms of long-term immunotherapy for MOGAD. Inclusion criteria were history of 1 CNS demyelinating attacks, MOG-IgG seropositivity, and immunotherapy for 6 months. Patients were reviewed for CNS demyelinating attacks before and during long-term immunotherapy.Seventy patients were included. The median age at initial CNS demyelinating attack was 29 years (range 3-61 years; 33% <18 years), and 59% were female. The median annualized relapse rate (ARR) before treatment was 1.6. On maintenance immunotherapy, the proportion of patients with relapse was as follows: mycophenolate mofetil 74% (14 of 19; ARR 0.67), rituximab 61% (22 of 36; ARR 0.59), azathioprine 59% (13 of 22; ARR 0.2), and IV immunoglobulin (IVIG) 20% (2 of 10; ARR 0). The overall median ARR on these 4 treatments was 0.3. All 9 patients treated with multiple sclerosis (MS) disease-modifying agents had a breakthrough relapse on treatment (ARR 1.5).This large retrospective multicenter study of patients with MOGAD suggests that maintenance immunotherapy reduces recurrent CNS demyelinating attacks, with the lowest ARR being associated with maintenance IVIG therapy. Traditional MS disease-modifying agents appear to be ineffective. Prospective randomized controlled studies are required to validate these conclusions.

View details for DOI 10.1212/WNL.0000000000009758

View details for PubMedID 32554760

Anatomic and Thermometric Analysis of Cranial Nerve Palsy after Laser Amygdalohippocampotomy for Mesial Temporal Lobe Epilepsy. Operative neurosurgery (Hagerstown, Md.) Huang, Y., Leung, S. A., Parker, J. J., Ho, A. L., Wintermark, M., Patel, S. H., Pauly, K. B., Kakusa, B. W., Beres, S. J., Henderson, J. M., Grant, G. A., Halpern, C. H. 2019

Abstract

BACKGROUND: Laser interstitial thermal therapy (LITT) is a minimally invasive therapy for treating medication-resistant mesial temporal lobe epilepsy. Cranial nerve (CN) palsy has been reported as a procedural complication, but the mechanism of this complication is not understood.OBJECTIVE: To identify the cause of postoperative CN palsy after LITT.METHODS: Four medial temporal lobe epilepsy patients with CN palsy after LITT were identified for comparison with 22 consecutive patients with no palsy. We evaluated individual variation in the distance between CN III and the uncus, and CN IV and the parahippocampal gyrus using preoperative T1- and T2-weighted magnetic resonance (MR) images. Intraoperative MR thermometry was used to estimate temperature changes.RESULTS: CN III (n=2) and CN IV palsies (n=2) were reported. On preoperative imaging, the majority of identified CN III (54%) and CN IV (43%) were located within 1 to 2 mm of the uncus and parahippocampal gyrus tissue border, respectively. Affected CN III and CN IV were more likely to be found<1 mm of the tissue border (PCNIII=.03, PCNIV<.01; chi-squared test). Retrospective assessment of thermal profile during ablation showed higher temperature rise along the mesial temporal lobe tissue border in affected CNs than unaffected CNs after controlling for distance (12.9C vs 5.8C; P=.03; 2-sample t-test).CONCLUSION: CN palsy after LITT likely results from direct heating of the respective CN running at extreme proximity to the mesial temporal lobe. Low-temperature thresholds set at the border of the mesial temporal lobe in patients whose CNs are at close proximity may reduce this risk.

View details for DOI 10.1093/ons/opz279

View details for PubMedID 31555820

Unilateral retinitis pigmentosa in children JOURNAL OF AAPOS Mercado, C. L., Pham, B. H., Beres, S., Marmor, M. F., Lambert, S. R. 2018; 22 (6): 45761
Pseudotumor Cerebri Syndrome is the Best Term for This Condition PEDIATRIC NEUROLOGY Beres, S. J., Digre, K. B., Friedman, D. I., Liu, G. T. 2018; 87: 910
Pseudotumor Cerebri Syndrome is the Best Term for This Condition. Pediatric neurology Beres, S. J., Digre, K. B., Friedman, D. I., Liu, G. T. 2018; 87: 910

View details for PubMedID 30501891

Unilateral retinitis pigmentosa in children. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus Mercado, C. L., Pham, B. H., Beres, S., Marmor, M. F., Lambert, S. R. 2018

Abstract

BACKGROUND: Retinitis pigmentosa (RP) is a group of rare inherited retinal disorders characterized by diffuse progressive degeneration of the retina that typically presents bilaterally. Unilateral RP has not often been reported in children. We present a series of cases that illustrate discrimination between unilateral and asymmetric disease and between dystrophy and acquired degeneration.METHODS: Four patients (9-15 years of age; 3 females) were referred to our institution for possible unilateral RP based on fundus appearance and unilateral symptoms. All underwent full-field electroretinography (ERG), spectral domain optical coherence tomography (SD-OCT), widefield and color fundus photography, and fundus autofluorescence (FAF) imaging. Genetic testing and a vitamin and essential fatty acids panel were also conducted in 1 patient.RESULTS: Unilateral retinal degeneration was confirmed in 2 patients, whose fellow eyes showed no abnormalities on ERG or imaging. The other 2 patients were found to have highly asymmetric retinal degeneration based on ERG, wide-angle images, and repeated examinations (range, 0.3-9.8 years). Genetic testing and blood testing in 1 unilateral case were negative.CONCLUSIONS: Childhood-onset "unilateral RP" remains a difficult and uncertain diagnosis. ERG testing and longitudinal and widefield fundus examination are necessary to exclude asymmetrical disease. Although unilateral degeneration may exist in some children, its inherited or acquired etiology remains poorly understood.

View details for PubMedID 30243749

Optic Pathway Gliomas Secondary to Neurofibromatosis Type 1 SEMINARS IN PEDIATRIC NEUROLOGY Beres, S., Avery, R. A. 2017; 24 (2): 9299

Abstract

Children with neurofibromatosis type 1 frequently manifest optic pathway gliomas-low-grade gliomas intrinsic to the visual pathway. This review describes the molecular and genetic mechanisms driving optic pathway gliomas as well as the clinical symptoms of this relatively common genetic condition. Recommendations for clinical management and descriptions of the newest imaging techniques are discussed.

View details for PubMedID 28941532

Pediatric Pseudotumor Cerebri Syndrome: Diagnosis, Classification, and Underlying Pathophysiology SEMINARS IN PEDIATRIC NEUROLOGY Sheldon, C. A., Paley, G. L., Beres, S. J., McCormack, S. E., Liu, G. T. 2017; 24 (2): 11015

Abstract

Pseudotumor cerebri syndrome (PTCS) is defined by the presence of elevated intracranial pressure in the setting of normal brain parenchyma and cerebrospinal fluid. PTCS can occur in the pediatric and adult populations and, if untreated, may lead to permanent visual loss. In this review, discussion will focus on PTCS in the pediatric population and will outline its distinct epidemiology and key elements of diagnosis, evaluation and management. Finally, although the precise mechanisms are unclear, the underlying pathophysiology will be considered.

View details for PubMedID 28941525

Optic Pathway Gliomas JOURNAL OF PEDIATRIC NEUROLOGY Beres, S., Avery, R. A. 2017; 15 (1): 1524