Medical Specialties Commons^™

Glut1 Deficiency: Retinal Detrimental Effects Of Gliovascular Modulation, Matt Henry, John Kitchens, Juan M. Pascual, Ramiro S. Maldonado

Ophthalmology and Visual Science Faculty Publications

No abstract provided.

The Role Of Temperature Management In Neurologic Outcomes Of Adult Cardiac Arrests:, Trenton Christensen

Theses and Graduate Projects

Background: Targeted Temperature control for post cardiac arrest patients has a long history dating back to the ancient Greeks. In the last twenty years there has been a push to define and implement a protocol for targeted temperature control for post cardiac arrest patients, specifically those with ventricular fibrillation arrests, to improve neurological outcomes and post-arrest quality of life. In this review, literature from the last twenty years and beyond was examined to attempt to determine whether populations treated with therapeutic hypothermia experienced improved neurological results.

Methods: Literature searches were preformed using the PubMed database as well as Google Scholar. …

Value Of Achieving A Watertight Dural Closure, And The Use Of Dural Sealants After Supratentorial Cranial Surgery, Ummey Hani, Fatima Aziz, Muhammad Shahzad Shamim

Section of Neurosurgery

Dural closure at the end of cranial surgery is considered an extremely important step to maintain anatomical continuity, separate the intradural space with the extradural one, and to prevent possible complications related to cerebrospinal fluid leak. Wherein its usefulness in posterior fossa craniotomy is established, many surgeons do not perform it routinely in supratentorial craniotomies, citing unnecessary delay and lack of evidence supporting it. Herein, we have reviewed the data to find evidence in support of watertight suture based dural closures compared to other dural closure techniques, in supratentorial craniotomies.

Brainstem Ischemic Syndrome In Juvenile Nf2., John W Henson, Tara Benkers, Connor Mccormick

Articles, Abstracts, and Reports

Objective: A new case of brainstem ischemic necrosis in a young woman with de novo neurofibromatosis type 2 (NF2) is reported, and given notable similarities to 7 prior cases of brainstem stroke in the literature, features defining a possible syndrome were sought.

Methods: Case review including detailed clinical assessment, neuroimaging analysis, genetic testing, and brain biopsy, followed by a multicase analysis.

Results: Brainstem ischemia in juvenile NF2 typically occurs in teenagers without previously known NF2 as an acute, monophasic presentation with restricted diffusion in the midbrain or pons following a recent hypoperfusion event, normal vascular imaging, obvious intracranial imaging features …

Congenital Myasthenic Syndrome Caused By A Frameshift Insertion Mutation In, Szabolcs Szelinger, Jonida Krate, Keri Ramsey, Samuel P Strom, Perry B Shieh, Hane Lee, Newell Belnap, Chris Balak, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ana M Claasen, Isabelle Schrauwen, Stanley F Nelson, Matthew J Huentelman, David W Craig, Samuel Yang, Steven A Moore, Kumaraswamy Sivakumar, Vinodh Narayanan, Sampathkumar Rangasamy, Ucla Clinical Genomics Center

Articles, Abstracts, and Reports

Objective: Description of a new variant of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) gene causing congenital myasthenic syndrome (CMS) in 3 children from 2 unrelated families.

Methods: Muscle biopsies, EMG, and whole-exome sequencing were performed.

Results: All 3 patients presented with congenital hypotonia, muscle weakness, respiratory insufficiency, head lag, areflexia, and gastrointestinal dysfunction. Genetic analysis identified a homozygous frameshift insertion in the GFPT1 gene (NM_001244710.1: c.686dupC; p.Arg230Ter) that was shared by all 3 patients. In one of the patients, inheritance of the variant was through uniparental disomy (UPD) with maternal origin. Repetitive nerve stimulation and single-fiber EMG was consistent …

Biomarker Application For Precision Medicine In Stroke, Alexis N. Simpkins, Miroslaw Janowski, Helieh S. Oz, Jill Roberts, Gregory Bix, Sylvain Doré, Ann M. Stowe

Neurosurgery Faculty Publications

Stroke remains one of the leading causes of long-term disability and mortality despite recent advances in acute thrombolytic therapies. In fact, the global lifetime risk of stroke in adults over the age of 25 is approximately 25%, with 24.9 million cases of ischemic stroke and 18.7 million cases of hemorrhagic stroke reported in 2015. One of the main challenges in developing effective new acute therapeutics and enhanced long-term interventions for stroke recovery is the heterogeneity of stroke, including etiology, comorbidities, and lifestyle factors that uniquely affect each individual stroke survivor. In this comprehensive review, we propose that future biomarker studies …

The Implications Of Paraspinal Muscle Atrophy In Low Back Pain, Thoracolumbar Pathology, And Clinical Outcomes After Spine Surgery: A Review Of The Literature., Kevin He, Jeffery Head, Nikolaos Mouchtouris, Kevin Hines, Phelan Shea, Richard Schmidt, Christian Hoelscher, Geoffrey Stricsek, James Harrop, Ashwini Sharan

Department of Neurosurgery Faculty Papers

STUDY DESIGN: Literature review.

OBJECTIVES: Paraspinal muscle integrity is believed to play a critical role in low back pain (LBP) and numerous spinal deformity diseases and other pain pathologies. The influence of paraspinal muscle atrophy (PMA) on the clinical and radiographic success of spinal surgery has not been established. We aim to survey the literature in order to evaluate the impact of paraspinal muscle atrophy on low back pain, spine pathologies, and postoperative outcomes of spinal surgery.

METHODS: A review of the literature was conducted using a total of 267 articles identified from a search of the PubMed database and …

Out-Patient Neurological Disorders In Tanzania: Experience From A Private Institution In Dar Es Salaam, Philip Adebayo, Omar Aziz, Rose E. Mwakabatika, Mandela Makakala, Mugisha Clement, Shabbir Adamjee, Noureen Mushi, Ahmed Jusabani, Eric Aris

Internal Medicine, East Africa

Background and introduction: Low and middle-income countries (LMIC) have a considerable burden of neurological disorders. Available profile of neurological disorders in our environment is biased towards neurological admissions. There is a paucity of data on out-patient neurological conditions in sub-Saharan Africa.

Objective: To determine the frequency and demographic data of neurological illnesses being managed at the adult out-patient neurology clinic of the Aga Khan Hospital, Dar es Salaam (AKHD).

Materials and methods: The electronic medical records of all cases with neurological diseases who presented to the adult neurology clinic of the AKHD between January 2018, and December 2019 were retrospectively …

Perioperative Anticoagulation Management In Spine Surgery: Initial Findings From The Ao Spine Anticoagulation Global Survey., Philip Louie, Garrett Harada, James Harrop, Thomas Mroz, Khalid Al-Saleh, Giovanni Barbanti Brodano, Jens Chapman, Michael Fehlings, Serena Hu, Yoshiharu Kawaguchi, Michael Mayer, Venugopal Menon, Jong-Beom Park, Sheeraz Qureshi, Shanmuganathan Rajasekaran, Marcelo Valacco, Luiz Vialle, Jeffrey C Wang, Karsten Wiechert, K Daniel Riew, Dino Samartzis

Department of Neurosurgery Faculty Papers

STUDY DESIGN: Cross-sectional, international survey.

OBJECTIVES: This study addressed the global perspectives concerning perioperative use of pharmacologic thromboprophylaxis during spine surgery along with its risks and benefits.

METHODS: A questionnaire was designed and implemented by expert members in the AO Spine community. The survey was distributed to AO Spine's spine surgeon members (N = 3805). Data included surgeon demographic information, type and region of practice, anticoagulation principles, different patient scenarios, and comorbidities.

Results: A total of 316 (8.3% response rate) spine surgeons completed the survey, representing 64 different countries. Completed surveys were primarily from Europe (31.7%), South/Latin America (19.9%), and …

Bdnf-Related Gene Expression Of Laser Capture Microdissected Glutamate Neurons From The Anterior Cingulate Cortex In Mouse Models Of Autism Spectrum Disorder, Misty Owens

Electronic Theses and Dissertations

Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting social behaviors. ASD affects 1 in 59 children with males affected more frequently. ASD is postulated to result from excitatory and inhibitory neurotransmission imbalances. Brain-derived neurotrophic factor (BDNF) signaling affects ASD by influencing synaptogenesis, plasticity, and survival. Studying early in-utero neuropathological changes within ASD requires the use of animal models. Expression of BDNF-associated genes were analyzed within laser capture microdissected pyramidal neurons from the anterior cingulate cortex of male and female BTBR and valproic acid mouse models. No expression differences were found in any gene comparing the three groups. Gender comparisons …

Structural Magnetic Resonance Imaging As A Diagnostic Biomarker Of Hiv-Associated Neurocognitive Disorders (Hand), Mikki Schantell

Capstone Experience: Master of Public Health

Objective: The goal of this study was to do an exploratory analysis to determine if gray matter brain volumes and cortical thickness measures obtained from structural magnetic resonance imaging (sMRI) can discriminate people with HIV-associated neurocognitive disorders (HAND), neurocognitively unimpaired people with HIV (NU PWH), and HIV-negative controls (HIV- controls) using linear discriminant analyses.

Methods: A total of 231 participants, including 110 PWH and 121 HIV- controls, completed a neuropsychological (NP) battery and an sMRI protocol. The bilateral gray matter volumes and cortical thickness brain regions were analyzed using 18 linear discriminant models to assess the discriminability of gray matter …

De Novo Variants Of Nr4a2 Are Associated With Neurodevelopmental Disorder And Epilepsy., Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah Green, Koen Van Gassen, Tracy Brandt, Rhonda E. Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H. Gavrilova, Eric W. Klee, Kendra Engleman, Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G Bradley Schaefer, Shelley Towner, Eva H. Brilstra, Bobby P C Koeleman

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene.

METHODS: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for one variant to confirm its splicing effect. Independent discoveries were shared through GeneMatcher.

RESULTS: Missense and loss-of-function variants in NR4A2 were identified in patients from eight unrelated families. One patient carried a larger deletion including adjacent genes. The cases presented with developmental delay, hypotonia (six cases), and epilepsy (six cases). De novo status was …

Reccurent Reversible Encephalopathy With Ataxia And D-Lactic Acidosis In Short Bowel Syndrome, Abdul Rana, Salman Assad, Sucharita Katikala, Shuja Asad Malik, Mahmoud Abouzid, Mehar Zahid, Swaroopa Pulivarthi

Marshall Journal of Medicine

The short gut syndrome can lead to multiple metabolic disorders along with chronic malnutrition. Such patients can develop changes in mental status due to metabolic alterations. We present a case of eleven years old male who presented to the hospital with an altered mental state. There were repeated admissions to the hospital with a similar complain with non-conclusive cerebrospinal fluid analysis and normal neuroimaging findings. The patient suffered from chronic malnutrition and multiple hospitalizations with altered mental status, encephalopathy. However, he responded well to bicarbonate therapy and prophylactic metronidazole treatment.

A Fatal Case Of Primary Amoebic Meningoencephalitis (Pam) Complicated With Diabetes Insipidus (Di): A Case Report And Review Of The Literature, Zain Mushtaq, Saad Bin Zafar Mahmood, Adil Aziz

Section of Internal Medicine

Naegleria fowleri is a highly infective free-living amoeba usually isolated from soil and fresh water and is primarily found to infect the central nervous system (CNS) resulting in primary amoebic meningoencephalitis (PAM). PAM as a cause of meningitis is often overlooked for other, more common causes of meningitis. Despite all the advances in antimicrobial therapy and supportive care systems, the mortality rate of this rare infection remains above 95% with the bulk of the cases being found in developed countries. We are presenting a case of a 44-year-old male with fever, worsening headache, and generalized weakness. Lumbar puncture showed a …

Regional And Experiential Differences In Surgeon Preference For The Treatment Of Cervical Facet Injuries: A Case Study Survey With The Ao Spine Cervical Classification Validation Group, Jose A Canseco, Gregory D Schroeder, Parthik D Patel, Giovanni Grasso, Michael Chang, Frank Kandziora, Emiliano N Vialle, F Cumhur Oner, Klaus J Schnake, Marcel F Dvorak, Jens R Chapman, Lorin M Benneker, Shanmuganathan Rajasekaran, Christopher K Kepler, Alexander R Vaccaro

Department of Neurosurgery Faculty Papers

PURPOSE: The management of cervical facet dislocation injuries remains controversial. The main purpose of this investigation was to identify whether a surgeon's geographic location or years in practice influences their preferred management of traumatic cervical facet dislocation injuries.

METHODS: A survey was sent to 272 AO Spine members across all geographic regions and with a variety of practice experience. The survey included clinical case scenarios of cervical facet dislocation injuries and asked responders to select preferences among various diagnostic and management options.

RESULTS: A total of 189 complete responses were received. Over 50% of responding surgeons in each region elected …

Meta-Analysis Of The Alzheimer's Disease Human Brain Transcriptome And Functional Dissection In Mouse Models., Ying-Wooi Wan, Rami Al-Ouran, Carl G Mangleburg, Thanneer M Perumal, Tom V Lee, Katherine Allison, Vivek Swarup, Cory C Funk, Chris Gaiteri, Mariet Allen, Minghui Wang, Sarah M Neuner, Catherine C Kaczorowski, Vivek M Philip, Gareth R Howell, Heidi Martini-Stoica, Hui Zheng, Hongkang Mei, Xiaoyan Zhong, Jungwoo Wren Kim, Valina L Dawson, Ted M Dawson, Ping-Chieh Pao, Li-Huei Tsai, Jean-Vianney Haure-Mirande, Michelle E Ehrlich, Paramita Chakrabarty, Yona Levites, Xue Wang, Eric B Dammer, Gyan Srivastava, Sumit Mukherjee, Solveig K Sieberts, Larsson Omberg, Kristen D Dang, James A Eddy, Phil Snyder, Yooree Chae, Sandeep Amberkar, Wenbin Wei, Winston Hide, Christoph Preuss, Ayla Ergun, Phillip J Ebert, David C Airey, Sara Mostafavi, Lei Yu, Hans-Ulrich Klein, Accelerating Medicines Partnership, Alzheimer’S Disease Consortium, Gregory W Carter, David A Collier, Todd E Golde, Allan I Levey, David A Bennett, Karol Estrada, T Matthew Townsend, Bin Zhang, Eric Schadt, Philip L De Jager, Nathan D Price, Nilüfer Ertekin-Taner, Zhandong Liu, Joshua M Shulman, Lara M Mangravite, Benjamin A Logsdon

Articles, Abstracts, and Reports

We present a consensus atlas of the human brain transcriptome in Alzheimer's disease (AD), based on meta-analysis of differential gene expression in 2,114 postmortem samples. We discover 30 brain coexpression modules from seven regions as the major source of AD transcriptional perturbations. We next examine overlap with 251 brain differentially expressed gene sets from mouse models of AD and other neurodegenerative disorders. Human-mouse overlaps highlight responses to amyloid versus tau pathology and reveal age- and sex-dependent expression signatures for disease progression. Human coexpression modules enriched for neuronal and/or microglial genes broadly overlap with mouse models of AD, Huntington's disease, amyotrophic …

Drug-Resistant Epilepsy In Children With Juvenile Huntington's Disease: A Challenging Case And Brief Review, Abdulhafeez Khair, Jessica Kabrt, Stephen Falchek

Department of Neurology Faculty Papers

Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder with a progressive decline in cognitive, motor, and psychological function. Chorea tends to be the most common associated movement disorder, although other variants of several abnormal movements are also seen. Adult-onset HD is the most common subtype. Juvenile Huntington's disease (JHD) accounts for 5%-10% of all HD cases and presents as a rapidly progressive disorder with a multitude of characteristics. We report on a 9-year-old male with JHD who presented with refractory epilepsy. His EEG findings, seizure type, and antiepileptic drug usage are discussed with a brief review of the currently …

Veterans Helping Veterans Mid-Day Talk: Gulf War Illness Research, Bill Watts, Elizabeth G. Balbin

INIM Research Seminar Series

• Meet the Gulf War Illness Research Team.
• Learn about the ease of participating in research.
• Hear from veterans who have participated in research.
• Learn about different studies currently available.

Inflammatory Pathway Analytes Predicting Rapid Cognitive Decline In Mci Stage Of Alzheimer’S Disease, Jagan A. Pillai, Gurkan Bebek, Lynn M. Bekris, Aaron Bonner-Jackson, Stephen M. Rao, Mark R. Chance, James B. Leverenz

Faculty Scholarship

Objective: To determine the inflammatory analytes that predict clinical progression and evaluate their performance against biomarkers of neurodegeneration. Methods: A longitudinal study of MCI-AD patients in a Discovery cohort over 15 months, with replication in the Alzheimer’s Disease Neuroimaging Initiative (ADNI) MCI cohort over 36 months. Fifty-three inflammatory analytes were measured in the CSF and plasma with a RBM multiplex analyte platform. Inflammatory analytes that predict clinical progression on Clinical Dementia Rating Scale-Sum of Boxes (CDR-SB) and Mini Mental State Exam scores were assessed in multivariate regression models. To provide context, key analyte results in ADNI were compared against biomarkers …

In Vivo Evidence Of Exosome-Mediated Aβ Neurotoxicity, Ahmed Elsherbini, Haiyan Qin, Zhihui Zhu, Priyanka Tripathi, Simone M. Crivelli, Erhard Bieberich

Physiology Faculty Publications

No abstract provided.

A Comparative Study Of Sleep And Diurnal Patterns In House Mouse (Mus Musculus) And Spiny Mouse (Acomys Cahirinus), Chanung Wang, Lauren E. Guerriero, Dillon M. Huffman, Asma'a A. Ajwad, Trae C. Brooks, Sridhar Sunderam, Ashley W. Seifert, Bruce F. O'Hara

Biomedical Engineering Faculty Publications

Most published sleep studies use three species: human, house mouse, or Norway rat. The degree to which data from these species captures variability in mammalian sleep remains unclear. To gain insight into mammalian sleep diversity, we examined sleep architecture in the spiny basal murid rodent Acomys cahirinus. First, we used a piezoelectric system validated for Mus musculus to monitor sleep in both species. We also included wild M. musculus to control for alterations generated by laboratory-reared conditions for M. musculus. Using this comparative framework, we found that A. cahirinus, lab M. musculus, and wild M. musculus were …

Polyspike Ictal-Onset Absence Seizures In A Pediatric Patient With Down Syndrome., Sherouk A. Abdelmoity, Mohammed Ilyas

Manuscripts, Articles, Book Chapters and Other Papers

Polyspike ictal-onset absence seizure has been reported in adult patients with genetic generalized epilepsy but is a novel pattern in the pediatric population. Absence seizures are usually associated with generalized spike-and-wave on EEG. However, we present the case of a 10-year-old girl with Down syndrome and developmental delays who presented with atypical absence seizure associated with an unusual electroencephalographic (EEG) pattern of polyspike ictal-onset. Recognition of this ictal pattern in the pediatric population, as previously reported in adult populations, is important as it can have therapeutic and prognostic implications.

Red Ear Syndrome: A Case Presentation And Discussion, Jared Brackenrich, Samantha Sternad, Chad Johnston

HCA Healthcare Journal of Medicine

Introduction: Red Ear Syndrome (RES) is a condition often considered to be a localized form of erythromelalgia. It can be related to structural cervical defects or idiopathic. RES is generally very difficult to treat.

Discussion: A 57-year-old male presented to the dermatology clinic complaining of a 4-month history of intermittent redness and severe burning of bilateral ears. On examination, the patient exhibited edematous erythema and tenderness to palpation affecting the right and left ear and right malar cheek. A skin biopsy revealed mild superficial perivascular lymphocytic infiltrate with hypertrophy of endothelial cells. The patient was found to have a normal …

Significance Of Micro-Rna Expression In Patients With Meningioma, Rida Mitha, Muhammad Shahzad Shamim

Section of Neurosurgery

Recent brain tumour research has shown abnormalities in gene expression as key features for almost all common brain tumours investigated. However, there is increasing evidence that epigenetic abnormalities are also crucial for tumorigenesis. Epigenetic abnormalities are heritable alterations affecting gene expression without changing the primary DNA sequence. Epigenetic abnormalities in meningiomas include abnormal microRNA expression, altered DNA methylation and histone and chromatin modifications. In this review we identify the role of altered expression of microRNA in the development and recurrence of meningioma. Based on the review of current literature, extensive knowledge of micro-RNA expression cannot only determine tumour recurrence and …

Dimethyl Fumarate Suppresses Granulocyte Macrophage Colony-Stimulating Factor-Producing Th1 Cells In Cns Neuroinflammation., Farinaz Safavi, Rodolfo Thome, Zichen Li, Guang-Xian Zhang, Abdolmohamad Rostami

Department of Neurology Faculty Papers

Objective To study the immunomodulatory effect of dimethyl fumarate (DF) on granulocyte macrophage colony-stimulating factor (GM-CSF) production in CD4+ T cells in experimental autoimmune encephalomyelitis (EAE) and human peripheral blood mononuclear cells (PBMCs).

Methods We collected splenocytes and CD4+ T cells from C57BL/6 wild-type and interferon (IFN)-γ–deficient mice. For human PBMCs, venous blood was collected from healthy donors, and PBMCs were collected using the Percoll gradient method. Cells were cultured with anti-CD3/28 in the presence/absence of DF for 3 to 5 days. Cells were stained and analyzed by flow cytometry. Cytokines were measured by ELISA in cell supernatants. For in …

Post-Vaccination Pharyngeal-Cervical-Brachial Variant Of Guillain-Barré Syndrome, Funmilola T. Taiwo, Daniel E. Ezuduemoih, Philip Adebayo

Internal Medicine, East Africa

The pharyngeal-cervical-brachial (PCB) variant of Guillain-Barré syndrome (GBS) is very rare. It is characterized by weakness of the upper extremities associated with bulbar symptoms and facial diplegia. Documented cases were post-infectious, a post-vaccination occurrence has not been documented in the available literature. Even rarer is the occurrence of any variant of GBS following the mumps measles rubella (MMR) vaccine. The neurophysiological hallmark of PCB variant of GBS is a combination of myelinopathy and axonopathy, hence, its consideration as a subtype of the acute motor axonal neuropathy (AMAN) variant. It should be suspected in any case of acute-onset flaccid symmetrical weakness …

Furrowed Tongue, Fatten Lip And Facial Droop, Philip Adebayo, Hanifa Mbithe

Internal Medicine, East Africa

No abstract provided.

Outcome Of Cranial Firearm Injuries In Civilian Population Based On A Novel Classification System, Farrukh Javeed, Asad Abbas, Lal Rehman, Syed Raza Khairat Rizvi, Ali Afzal, Hafiza Fatima Aziz

Section of Neurosurgery

Background: Cranial firearm injuries (CFAIs) are expected to be frequent during warfare; however, it is becoming increasingly common among civilian population in our part of the world. These injuries are associated with significant morbidity and mortality in addition to financial loss. The objective of our study is to evaluate the pattern of gunshot injuries to cranium and their outcome.
Methods: The study was conducted on 114 patients presenting with CFAIs to Jinnah Postgraduate Medical Centre, Karachi, Pakistan, between June 2015 and January 2019. Patients were evaluated with respect to age, gender, pattern of injury, Glasgow coma scale on arrival, radiological …

A Predictive Analytics Model For Differentiating Between Transient Ischemic Attacks (Tia) And Its Mimics, Alia C. Stanciu, Mihai Banciu, Alireza Sadighi, Kyle A. Marshall, Neil Holland, Vida Abedi, Ramin Zand

Faculty Journal Articles

Transient ischemic attack (TIA) is a brief episode of neurological dysfunction resulting from cerebral ischemia not associated with permanent cerebral infarction. TIA is associated with high diagnostic errors because of the subjective nature of findings and the lack of clinical and imaging biomarkers. The goal of this study was to design and evaluate a novel multinomial classification model, based on a combination of feature selection mechanisms coupled with logistic regression, to predict the likelihood of TIA, TIA mimics, and minor stroke.

Failure To Thrive - An Overlooked Manifestation Of Kmt2b-Related Dystonia: A Case Presentation., Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose N. Gelineau-Morel, Shimul Chowdhury, Rady Children’S Institute For Genomic Medicine Investigators, Jennifer Friedman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene.

CASE PRESENTATION: We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the …