Classic Presentation Research Articles

The etiology and mortality of altered level of consciousness in the emergency room: before and after coronavirus disease

Background: Coronavirus disease 2019 (COVID-19) has resulted in social, economic, medical, and psychological changes. New-onset altered level of consciousness (ALC) is a classical presentation in real-world medicine. This study investigated changes in ALC in the emergency room (ER) in the periods before (BC) and after (AC) COVID-19.Methods: This was a retrospective study of patients with ALCs who visited the ER of a tertiary referral center, and their medical records BC and AC were compared. A consortium allocated and analyzed the etiologies of ALC in a case-by-case discussion. The time point for etiological assessment was the time of discharge from the ER.Results: In total, 1,936 patients with ALCs (731 and 1,205 in BC and AC, respectively) were investigated. The most common etiology was systemic infection (25.9%), followed by metabolic causes (20.8%). Systemic infections (22.9% vs. 30.8%, P<0.001) and stroke (14.6% vs. 18.2%, P=0.037) were lower in AC than in BC, respectively, whereas rates of toxicity (15.4% vs. 6.0%, P<0.001) and traumatic brain injury (TBI; 5.9% vs. 0.8%, P<0.001) were higher in AC than in BC. The overall mortality rate of ALC in the ER was 18.5%.Conclusion: This study demonstrated that the major etiologies of ALC in the ER were extra-cranial (58.5%). The mortality of ALC in the ER and the incidence of toxic cause and TBI increased in AC, suggesting a change in medical circumstances after the Pandemic.

Rhabdomyolysis: a review of imaging features across modalities.

This review illustrates the imaging features of rhabdomyolysis across multiple modalities and in a variety of clinical scenarios. Rhabdomyolysis is the rapid breakdown of striated muscle following severe or prolonged insult resulting in the release of myocyte constituents into circulation. In turn, patients develop characteristically elevated serum creatine kinase, positive urine myoglobin, and other serum and urine laboratory derangements. While there is a spectrum of clinical symptoms, the classic presentation has been described as muscular pain, weakness, and dark urine. This triad, however, is only seen in about 10% of patients. Thus, when there is a high clinical suspicion, imaging can be valuable in evaluating the extent of muscular involvement, subsequent complications such as myonecrosis and muscular atrophy, and other etiologies or concurrent injuries causing musculoskeletal swelling and pain, especially in the setting of trauma. Sequela of rhabdomyolysis can be limb or life-threatening including compartment syndrome, renal failure, and disseminated intravascular coagulation. MRI, CT, ultrasound, and 18-FDG PET/CT are useful modalities in the evaluation of rhabdomyolysis.

Diagnosis and Treatment of Sleep Apnea in Children: A Future Perspective Is Needed.

Obstructive sleep apnea (OSA) in children is a prevalent, but still, today, underdiagnosed illness, which consists of repetitive episodes of upper airway obstruction during sleep with important repercussions for sleep quality. OSA has relevant consequences in the pediatric population, mainly in the metabolic, cardiovascular (CV), and neurological spheres. However, contrary to adults, advances in diagnostic and therapeutic management have been scarce in the last few years despite the increasing scientific evidence of the deleterious consequences of pediatric OSA. The problem of underdiagnosis and the lack of response to treatment in some groups make an update to the management of OSA in children necessary. Probably, the heterogeneity of OSA is not well represented by the classical clinical presentation and severity parameters (apnea/hypopnea index (AHI)), and new strategies are required. A specific and consensus definition should be established. Additionally, the role of simplified methods in the diagnosis algorithm should be considered. Finally, the search for new biomarkers for risk stratification is needed in this population. In conclusion, new paradigms based on personalized medicine should be implemented in this population.

Celiac Disease in Children: A 2023 Update.

Celiac disease (CeD) is a chronic immune-mediated enteropathy, which occurs in genetically predisposed individuals by the ingestion of gluten proteins present in wheat, barley and rye. The global pooled prevalence of CeD is 0.7% and it has been reported from nations all around the globe and can affect individuals of any age. It has a wide clinical spectrum ranging from being asymptomatic to being symptomatic with severe manifestations. Though initial descriptions of CeD focused on the classical presentation with gastrointestinal manifestations, in recent years it has been found that more patients have non-classical manifestations such as anemia, osteoporosis, increased transaminases, failure to thrive or short stature.The definitive diagnosis of CeD is based on a combination of clinical history, serologic testing with/without examination of duodenal biopsies. The preferred initial serologic test regardless of age for the detection of CeD is the tissue transglutaminase (IgA anti-tTG). Children with a high tTG-IgA (≥10 ULN) AND a positive anti-endomysial IgA antibody (EMA) can be diagnosed to have CeD without the need for duodenal biopsies. The rest should undergo biopsies with at least 4 biopsies from the distal duodenum and at least 1 from the bulb. A correctly orientated biopsy showing increased intraepithelial cells and a villous to crypt ratio of <2 is suggestive of CeD. The management of CeD is a lifelong complete dietary avoidance of gluten. IgA-TGA acts as a surrogate marker for healing of the small-bowel mucosa and should be performed every 6 mo until normalization and then every 12-24 mo thereafter.

Atypical clinical presentation and management of urinary stone disease in non-verbal non-ambulatory children

Management of kidney stones primarily depends on various factors such as the presence of urinary tract obstruction, pain, stone size, location, impact on renal function, and the existence of infection. Renal colic is the classic presentation of an obstructive kidney stone. However, in this study, we present a cohort of non-verbal non-ambulatory (NVNA) patients who exhibit a distinct and uncommon presentation of kidney stones due to their medical conditions. Information about kidney stone disease in this gropup of complex pediatric patients is, scarce and their associated risk factors are not well understood. Therefore, we aim to summarize the clinical presentation, and management challenges in this unique group of NVNA patients to identify potential variables for prospective studies. A retrospective chart review was completed for all NVNA patients seen at the pediatric multidisciplinary kidney stone clinic between July 2020 to August 2022. Demographic variables, clinical presentation data, metabolic evaluation, radiological imaging, and surgical management was included for analysis. A total of 224 pediatric patients were referred to the multidisciplinary stone clinic. Of those, 27 were identified to be NVNA. The most common primary diagnosis was Cerebral Palsy followed by Lennox-Gastaut syndrome. Average age at first kidney stone presentation was 11.5 years±5.7 years. An obstructing stone was diagnosed in 18 (66%) patients, 4 (22.2%) of these presented with sepsis. Average stone burden was 9.2mm (±5.8mm). Of the obstructing stones, 13 (72%) were in the kidney. All patients with an obstructing stone underwent surgical management with retrograde endoscopic approach. Metabolic 24-h-urine analysis was completed in 24 (89%) patients. 17 (62%) had an elevated urine density, 15 (55%) demonstrated calcium oxalate supersaturation, 12 (44%) met criteria for acidosis, and 7 (26%) had significant hypocitraturia. NVNA patients represent a unique cohort whose clinical presentation is atypical. Limited ability to express symptoms makes early detection difficult to recognize. Twenty two percent of patients present with sepsis as their first manifestation of an acutely obstructing kidney stone. Pain is subjectively interpreted by caregivers and is an uncommon symptom. Our cohort demonstrates common risk factors for stones including propensity for chronic dehydration, slow urinary tract transit, ineffective bladder emptying, G-tube feeding, and lithogenic medications. NVNA pediatric patients have atypical kidney stone clinical presentation. Awareness of this unique group of patients should support future collaborative studies to focus on understanding these atypical presentations and reflect on improving management.

Sleep and bipolar disorder

A growing international scientific literature demonstrates the existence of sleep abnormalities and sleep/wake (or circadian) rhythms in bipolar disorder. These abnormalities exist during the acute phases of the disease, with the classic presentation of insomnia or hypersomnia during depressive episodes and a reduced need for sleep without feeling tired during manic episodes. But these disturbances can also appear or persist during phases of mood stability. However, it has now been clearly demonstrated that these disturbances can precipitate a new depressive or manic episode.

P.025 Variable expression in Dopa-responsive dystonia

Background: Dopa-responsive dystonia (DRD) is a rare disorder with a classic presentation of childhood or adolescent-onset dystonia. This is characterized by parkinsonism, diurnal fluctuations, and a dramatic response to low doses of levodopa. It has been reported that female carriers of the genetic mutation are more often affected than males. Methods: A 62-year-old man with DRD. He is a sibling of the first documented case of DRD with autopsy. Results: He noticed mild clumsiness at 10 years old when he would fall playing games. He gave up playing hockey in his 30s because of his balance. Neurological exam at age 49 revealed mild findings of parkinsonism and dystonia of the right leg. He was started on levodopa/carbidopa 100/25 mg 1/2 pill BID with significant and sustained improvement and resumed playing hockey. His sister had onset at age 5 with walking on tiptoes with obvious dystonia when examined at age 8; she was well controlled for many years on straight levodopa (without decarboxylase inhibitor) at a dose of 250mg TID. Conclusions: These cases of siblings with DRD exemplify varying degrees of severity among family members and genders with the same condition. Genetic results are pending and will be presented.

0483 Stakeholder Engagement Studios to Explore the Journey to Diagnosis of OSA Informed by Primary Care Providers and Patients

Abstract Introduction Barriers to obstructive sleep apnea (OSA) diagnosis include operational misalignments and miscommunications among patients, providers, industry, insurers, and the healthcare system. To explore this, we engaged stakeholders to examine determinants of OSA diagnosis in primary care to optimize trial planning. Methods We conducted two, separate, virtual, 1-hour stakeholder engagement studio sessions with Penn Medicine Primary Care Providers (n=6) and patients referred for OSA diagnostics within prior year (n=3). Facilitation guides were used to elicit barriers/facilitators to reaching diagnosis. Sessions were facilitated by a sleep physician and advanced practice sleep nurse with two note-takers in attendance. Rapid matrix analysis approach identified consistent themes within diagnosis barrier and facilitator categories. Themes were categorized by Safety Engineering Initiative for Patient Safety (SEIPS) work system domains: people (P), environment (E), tools (T), and tasks (T), PETT. Results Fourteen facilitators (2P, 3E, 3T, 6T) and 15 barriers (2P, 4E, 3T, 6T) were identified for “getting to OSA diagnosis.” Provider-level barriers include: hesitancy to provide anticipatory guidance to patients due to ambiguous workflows after referral, excessive referral order options, no access to templated patient instructions or quality education resources, confusing order panels and use of electronic health record (EHR) workarounds, and fragmented communication. Patient-level barriers include: timeliness of communication and care, sleep health unawareness, low technology literacy for EHR messaging, financial considerations, and insufficient follow-up from healthcare team. Provider facilitators include: classic OSA presentation, diagnosis decision aids, patient education resources, easy to find results in EHR, and low threshold to order referral due to knowledge about sleep. Patient facilitators include: trusted primary care relationship, choice of visit type (telehealth vs. in-person) and communication mode (phone call vs. text vs. EHR portal), active outreach/engagement by healthcare team, and access to educational materials. Conclusion Repeated studios, including stakeholders from varied sites, will further refine determinants with more saturation and validity. Engaging with stakeholders is supporting the design of a contextually relevant, end-user valued study to address undiagnosed OSA. Given the estimated high prevalence of undiagnosed OSA and the multiple stakeholders that contribute to the diagnostic process and experience, research-driven solutions will be impactful and better optimized with multi-level partnered research. Support (if any) K12HS026372

Dyke-Davidoff-Masson Syndrome: A Case Report in a Filipino Male Adolescent

A previously well young Filipino boy presented with prolonged recurrent left focal to bilateral seizure. He was born of a non-consanguineous marriage, home-delivered vaginally, full term with no perinatal complications. He had normal growth and developmental milestones until at the age of 7 months when he developed febrile status epilepticus. Since then, he was left with residual left hemiplegia, dysarthria, cognitive delay and recurrent seizures occurring twice daily. He was poorly compliant on multiple anti-seizure medications. He was able to go to school and do activities of daily living with minimal supervision from his family. Symptoms of refractory seizures, hemiparesis, facial asymmetry, and intellectual disabilities along with brain imaging evidence of cerebral hemi-atrophy with compensatory calvarial thickening and subsequent hyperpneumatization is consistent with Dyke-Davidoff-Masson Syndrome (DDMS). A rare clinico-neuroradiologic condition occurring in fetal or early childhood period as a consequence of chronic brain insult. Diagnosis is established clinically with a characteristic cranial imaging finding. Hemi-spherectomy is the treatment of choice. This case will enlighten our mind as well as aid us in the prompt recognition of this uncommon syndrome with a classic clinico-radiologic presentation. Multidisciplinary intervention is essential, primarily to optimize seizure control as well as provide quality of life.

Treatment with Neridronic Acid in a Newborn with Severe and Refractory Hypercalcemia Associated with Subcutaneous Fat Necrosis

Neonatal subcutaneous fat necrosis (SCFN) is a transient, generally benign panniculitis that presents within several weeks of life and occurs mostly in term or post-term newborns who have a history of intrauterine or perinatal distress. It is usually a self-limited condition. Hypercalcemia is a rare but serious complication of SCFN and needs prolonged follow-up. The etiopathogenesis of both subcutaneous fat necrosis in newborn and the resultant hypercalcemia is poorly understood. We describe a classic presentation of SCFN that led to a severe hypercalcemia refractory to standard treatment. This case shows how a single dose of neridronic acid was safe and effective in managing severe hypercalcemia unresponsive to conventional therapy without hypocalcemic rebounds.

IMPROVING STUDENTS’ WRITING SKILLS IN PERSONAL LETTER BY MASTERING STRUCTURE OF THE TEXT

This research aims to investigate the effectiveness of mastering the structure of the text to improve students’ writing skills in personal letters by mastering the structure of the text at second-year students of MA. Alkhairaat Biromaru. This is classroom action research. The object of this research is the second-year students of MA. Alkhairaat Biromaru consisting 21 students. This research was conducted in two cycles. The researchers used tests, observation for teachers and students, and LKS (project paper activity) to collect the data. The test research results show that the students’ writing skills in personal letters by mastering the structure of the text can be improved from the first cycle to the second one. The students’ test results can prove it in the first cycle, the classical competence percentage is 47,61%, and the classical absorption presentation is 60,95% can be improved to 85,71% for classical competence presentation and 83,33% for classical absorption presentation in cycle II. It means that the students’ writing skills in personal letters can be improved by mastering the structure of the text.

Abstract #1413209: An Interesting Case of Hereditary Adult Onset Hypophosphatemic Osteomalacia

Hereditary rickets/osteomalacia is uncommon disorder previously being referred as Vitamin D -resistant rickets. This group of rare disorder can be differentiated from other causes of rickets by inheritance pattern, hypophosphatemia with normocalcemia, FGF-23 dependent or independent nature and detection of genetic defects. Here we present an interesting case of autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR). A 32-year-old lady presented with complains of bony pains, proximal myopathy and recurrent insufficiency fractures for last 15 years. She was evaluated elsewhere and was found to have FGF23 dependent hypophosphatemic osteomalacia. She underwent Ga68 DOTATATE scan twice in the span of last 5 years as she was thought to have tumor induced osteomalacia (TIO), however both the scans were not able to localize any definitive lesion. She was advised to take oral phosphorus supplements, calcitriol and to undergo serial functional imaging every 3-5 years to localize FGF-23 secreting tumor. She was re-evaluated in our center for these complaints and was found to have low serum phosphorus, low TMP/GFR, normal serum calcium & electrolytes and elevated FGF-23 levels. On reexamining her history, she told that her mother as well as her 5-year-old daughter have knock knees. She also told that both she and her daughter started walking late at the age of 20 months. With this additional history, we considered the possibility of hereditary hypophosphatemic rickets and genetic testing in the form of clinical exome by next generation sequencing with further confirmation by sanger sequencing was done. Both index patient and her daughter were found to have a pathogenic heterogenous missense mutation in exon 3 of the FGF23 gene (chr12:c.527G >A ;p.Arg176Gln) confirming the diagnosis of ADHR. ADHR is a rare disorder caused by mutations in FGF-23 gene. This gain of function mutation leads to resistance of FGF-23 to proteolytic cleavage and processing resulting in its impaired inactivation. ADHR exhibits incomplete penetrance with variable age of onset as well as presentation. Some patients present in childhood with lower extremity deformity and phosphate wasting similar to classical presentation of X-linked hypophosphatemic rickets whereas other patients present clinically in adolescence or adulthood with bony pains, insufficiency fractures without lower extremity involvement. Patients with adult onset ADHR have clinical and biochemical profile similar to TIO. Hence clinical history of similar milder illness in other family members is an important clue to differentiate ADHR from TIO as was with this index case.

Reply to the Editor - Maternal inappropriate sinus tachycardia during pregnancy.

We would like to comment on the Letter to the Editor of Dr Wang on our manuscript, Management of Inappropriate Sinus Tachycardia during pregnancy (1Shah A.N. Ferreira S.W. Padanilam B.J. Prystowsky E.N. Management of inappropriate sinus tachycardia during pregnancy.Heart Rhythm O2. 2023; 4: 65-66https://doi.org/10.1016/j.hroo.2022.11.001Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar). He acknowledges that we used the standard accepted definition of inappropriate sinus tachycardia (IST) but raises the issue of whether an alternative definition of IST should be used during pregnancy. Indeed, recent data in pregnant women show that median heart rate was 82 bpm at 12 weeks gestation and rose to 91 bpm at 34.1 weeks (2Green L.J. Mackillop L.H. Salvi M. et al.Gestation-specific vital sign reference ranges in pregnancy.Obstet Gynecol. 2020; 135: 653-664Crossref PubMed Scopus (42) Google Scholar). However, the average heart rates in our patients mostly recorded in the early 2nd trimester were typically more than 100 bpm, and more importantly they were highly symptomatic with the added history of rapid and marked increases in heart rate during exertion, a classic presentation of IST. They were referred for further evaluation because their physicians considered them to have something other than the usual mild increase in heart rate with pregnancy. Dr Wang comments on the use of metoprolol to treat these very symptomatic patients, and suggests that the data on its effectiveness in non-pregnant patients remains questionable. The senior author (ENP) has a different experience and has treated scores of IST patients prior to ivabradine availability with substantial success in many using metoprolol succinate. The limiting factor for success is often the inability to use a high enough dose because some of these patients simply cannot tolerate beta-blockade therapy even at a low dose. Further, it is our experience that volume expansion and use of salt supplementation, while valuable in autonomic syndromes of hypotension, are not effective in pure IST without hypotension. Last, although one would like to avoid the use of any drug during pregnancy, metoprolol is considered safe to use if needed (3Page R.L. Joglar J.A. Caldwell M.A. et al.2015 ACC/AHA/HRS Guideline for the management of adult patients with supraventricular tachycardia: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.Heart Rhythm. 2016; 13: e136-e221Abstract Full Text Full Text PDF PubMed Scopus (67) Google Scholar), and all our patients were treated beyond the first trimester. Risks and benefits of therapy were discussed during the shared decision making process, and all patients wanted to take metoprolol to suppress their marked symptoms. We agree that more data on IST in pregnancy, and the safety of ivabradine, would be useful and encourage others to investigate this problem. To the Editor – Maternal inappropriate sinus tachycardia during pregnancyHeart Rhythm O2PreviewShah and colleagues presented 11 patients with maternal inappropriate sinus tachycardia (IST) during pregnancy.1 Two major points are worth considering. Full-Text PDF Open Access

A Case of Brainstem Predominant PRES (P10-7.003)

<h3>Objective:</h3> Brainstem-predominant posterior reversible encephalopathy (PRES) is a rare radiographic manifestation of the disease that clinicians should keep on the differential for vasogenic edema in the rhombencephalon. <h3>Background:</h3> A 48-year-old female with uncontrolled hypertension, chronic kidney disease, and polysubstance use disorder presented to the emergency department with abdominal pain and emesis of unknown duration. Shortly after admission she had her first lifetime seizure. After initial treatment, EEG was without definitive lateralizing or epileptiform findings. MRI revealed vasogenic edema, extensive in the brainstem and only mild in the parietal and occipital lobes. Without other laboratory or imaging explanations, the etiology was felt to be PRES, likely triggered by uncontrolled hypertension related to cocaine use and opiate withdrawal. Ultimately, with aggressive blood pressure management, the patient had complete resolution of symptoms and imaging findings. <h3>Design/Methods:</h3> NA <h3>Results:</h3> NA <h3>Conclusions:</h3> This case demonstrates a classic clinical presentation of PRES, but with atypical radiographic findings. PRES is an acute onset neurological disorder that commonly presents with headache, altered mental status, visual deficits, and seizure. Typical imaging findings of PRES include vasogenic edema in the parietal and occipital lobes, which is present in 98% of patients. Edema can also occur in the frontal lobes (68%), temporal lobes (40%), and cerebellar hemispheres (30%), basal ganglia (14%), and brain stem (13%). This patient’s imaging was particularly striking as there was such extensive brainstem involvement, yet only minimal parietal and occipital involvement. As described in this case, if diagnosed and treated rapidly, PRES generally has a good prognosis. The unique radiographic findings in this case add to the current body of evidence that PRES can instead present predominantly with extensive brainstem involvement. As a result, it is important to keep PRES on the differential in cases of brainstem edema. <b>Disclosure:</b> Miss Hao has nothing to disclose. Dr. Rosenthal has nothing to disclose. Dr. Dickstein has nothing to disclose.

Real-World Data on the Incidence and Risk of Guillain-Barre Syndrome Following SARS-CoV-2 Vaccination; A Prospective Surveillance Study (P2-5.026)

<h3>Objective:</h3> To report the crude incidence rate of GBS following SARS-CoV-2 vaccination; evaluate how vaccine dose, mechanism, age, and sex may affect the risk of GBS following SARS-CoV-2 vaccination; and clinically compare head-to-head GBS cases following two major mechanisms of vaccines. <h3>Background:</h3> Increasing evidence suggests an association between SARS-CoV-2 vaccines and Guillain-Barré syndrome (GBS). Nevertheless, little is understood about the contributing risk factors and clinical characteristics of GBS post SARS-CoV-2 vaccination. <h3>Design/Methods:</h3> In this prospective surveillance study of 38,828,692 SARS-CoV-2 vaccine doses administered from February 2021 to March 2022 in the Gyeonggi Province, South Korea, 55 cases of GBS were reported post vaccination. We estimated the incidence rate of GBS per million doses and the incidence rate ratio for the vaccine dose, mechanism, age, and sex. Additionally, we compared the clinical characteristics of GBS following mRNA-based and viral vector-based vaccinations. <h3>Results:</h3> The overall incidence of GBS following SARS-CoV-2 vaccination was 1.42 per million doses. Viral vector-based vaccines were associated with a higher risk of GBS. Men were more likely to develop GBS than women. The third dose of vaccine was associated with a lower risk of developing GBS. Classic sensorimotor and pure motor subtypes were the predominant clinical subtypes, and demyelinating type was the predominant electrodiagnostic subtype. The initial dose of viral-vector based vaccine and later doses of mRNA-based vaccine were associated with GBS, respectively. <h3>Conclusions:</h3> GBS following SARS-CoV-2 vaccination may not be clinically distinct. However, physicians should pay close attention to the classic presentation of GBS in men receiving an initial dose of viral vector-based SARS-CoV-2 vaccines. <b>Disclosure:</b> Dr. Ha has nothing to disclose. Dr. Kang has nothing to disclose. Dr. KYUNG has nothing to disclose. Mr. Kim has nothing to disclose. Dr. Kim has nothing to disclose. Dr. KIM has nothing to disclose. Dr. Bae has nothing to disclose. Dr. Song has nothing to disclose. Dr. Lee has nothing to disclose. Dr. Lee has nothing to disclose. Ms. Park has nothing to disclose. Dr. Hwang has nothing to disclose. Dr. Park has nothing to disclose. Jin Myoung Seok has nothing to disclose. Prof. Youn has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Medtronic. Prof. Youn has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Boston Scientific. Prof. Youn has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Boston Scientific. Prof. Youn has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Myung-In Pharm. Prof. Youn has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Boston Scientific. Prof. Youn has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Eisai Co. Ltd. Prof. Youn has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for SK Chem.

Characterization of the Common Symptomology and Great Mimickers of Autoimmune Encephalitis (P4-5.011)

<h3>Objective:</h3> To identify clinical and systemic variables associated with mimickers of Autoimmune Encephalitis (AE). <h3>Background:</h3> The classical presentation of AE includes acute or subacute onset of impaired memory and cognition, in combination with progressive neurologic symptoms which may include abnormal movements, seizures, psychosis, and balance, speech, or vision problems. However, diagnosis can be challenging due to broad differential diagnoses and variable presentations of patients with suspected AE. Greater awareness of AE has led to increased consideration of AE as a potential etiology of neurologic symptoms, and accordingly, misattribution of symptoms to AE in some instances. <h3>Design/Methods:</h3> We performed a single-center retrospective chart review of 212 patients from the University of Utah Health identified by query of the ICD-10 code G04.81: Other encephalitis and encephalomyelitis between January 2012–August 2022, which is the diagnostic code inclusive of AE and other related or nonspecific encephalitis. <h3>Results:</h3> We describe the patient demographics of this cohort, as well as relevant clinical data including the predominant presenting symptom(s), cerebrospinal fluid characteristics, electroencephalography and neuroaxis imaging findings, suspected initial diagnosis, timing and duration of treatment interventions (including immunomodulatory therapy), final diagnosis, and outcomes. <h3>Conclusions:</h3> The diagnosis of AE remains challenging, especially in patient presentations with a predominant psychiatric phenotype at onset, or in those with atypical features. Recognition of the most common pitfalls to diagnosis and disease mimics may improve timely and accurate recognition of causative etiologies and help to direct the most appropriate treatments and interventions. <b>Disclosure:</b> Miss Soneji has nothing to disclose. Miss Shapiro has nothing to disclose. Dr. Wright has nothing to disclose. Dr. Noroozi Gilandehi has nothing to disclose. Miss Francis has nothing to disclose. Dr. Smith has nothing to disclose. Mr. Wong has nothing to disclose. Dr. Clardy has received personal compensation for serving as an employee of Veterans Health Administration (VHA). Dr. Clardy has received personal compensation for serving as an employee of University of Utah Health. Dr. Clardy has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology/AAN Publications. The institution of Dr. Clardy has received research support from Sumaira Foundation for NMO. The institution of Dr. Clardy has received research support from Western Institute for Veteran Research. The institution of Dr. Clardy has received research support from NIH/NINDS. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a AAN Summer Meeting CoDirector Travel and Lodging with AAN. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a Grand Rounds Travel and Lodging with U of Iowa. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a Speaker Honoraria for Grand Rounds with Barrow Neurological Institute. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a Speaker Honoraria for Grand Rounds with Beaumont Health.

Pediatric Sinogenic Subdural Empyema: Case Report and Operative Technique

Intracranial complications of sinusitis in the pediatric age are rare but potentially life threatening. They usually occur with nonspecific symptoms such as headache, fever, nausea and vomiting rather than a classic neurological presentation, but they may evolve in few hours, leading to significant morbidity with permanent brain damage and sometimes to death. For this reason, early diagnosis and prompt treatment are essential. Our case demonstrates a sinogenic subdural empyema in an immunocompetent young boy who reached our Emergency Department due to a continuous right-sided headache, unresponsive to pain relievers. The clinical history and the diagnostic process are described: at first, laboratory exams, neurologic and otolaryngological assessment were performed, together with a cranial CT scan showing an inflammatory involvement of the right frontal, ethmoidal and maxillary sinuses. Intravenous antibiotic therapy was initiated. After a few hours the patient showed a sudden worsening of his clinical conditions: he was drowsy with left lower extremity hyposthenia and ipsilateral deep tendon reflexes absence. Considering the patient’s aggravated clinical presentation an emergent MRI with contrast enhancement was conducted, showing left midline shift, a widening of the liquor space on the right frontal and parietal convexity and noticeable meningeal enhancement after contrast injection. After a Neurosurgical and ENT evaluation the patient was taken to the operating room for a combined craniotomy and trans-nasal endoscopic drainage of the empyema. We present the surgical procedure with a pictorial step-by-step description. After the surgical procedure the patient’s condition gradually improved. He regained full neurological function, was accompanied by a rehabilitation team on recovering full force on the left extremities. At discharge the patient had no apparent neurological deficits. Subdural empyema is a rare but severe complication of pediatric sinusitis. Early diagnosis with combined medical and surgical therapies play a key role to reduce morbidity and mortality.

Identifying the cause of intoxication case without a clear history using flowcharts

Background: Suspicion of intoxication and its causative agents are required in the clinical practice of intensive care units. Patients with loss of consciousness and no history of leading causation present obstacles in emergency room management. An understanding of toxidromes and epidemiological evidence can help clinicians. However, classic toxidromes are not always presented. Objectives: This case was presented to determine the flow of approaches to identify the cause of intoxication and to design early strategies for supportive care in intoxication case management. Case: A woman with loss of consciousness accompanied by seizures, deep and rapid breathing, and hypotension. Since the search for collateral information did not produce any meaningful findings, the toxin diagnosis was given based on vital signs, pupil size, and mental status. Methanol intoxication was suspected based on hypothermia, decreased consciousness, normal pupil size, and Kussmaul breathing. Forensic analysis showed her serum was positive for ethanol and methanol. Conclusion: When facing a case without the classic presentation of the toxidrome, the toxin diagnosis can be directed based on vital signs, pupil size, mental status, and muscle tone. Introduction to epidemiology is also important in tracking intoxication causation

Autosomal Recessively Inherited Glucose Transporter-1 Deficiency Syndrome with Acanthocytosis: A Case Report

AbstractGlucose transporter-1 deficiency syndrome (GLUT-1DS) is a rare, autosomal dominantly inherited disorder due to a heterozygous mutation in the gene solute channel 2A1 (SLC2A1).This gene encodes the glucose transporter protein-1. Autosomal recessive inheritance is extremely rare. Similarly, only very few reports are found in the literature of hematological manifestations in this syndrome. We report an autosomal recessively inherited GLUT-1DS, due to a de novo mutation, with the classical infantile presentation associated with concomitant acanthocytosis. In this case report, the second child born to consanguineous parents with initial refractory neonatal seizures and subsequent poorly controlled epilepsy and developmental regression is discussed. The most notable investigation findings supportive of his underlying diagnosis were very low cerebrospinal fluid (CSF) glucose and CSF lactate levels. His CSF:plasma glucose ratio was 1:7.6. He was anemic with a hemoglobin of 8.8 g/dL with his blood film showing marked acanthocytosis. His elder brother who also had refractory epilepsy and developmental regression had similar hypoglycorrhachia, low CSF:plasma glucose ratio, and mild anemia with acanthocytosis, and he died before establishment of a diagnosis. Our patient was diagnosed to have a novel mutation SLC2A1 c.184A &gt; G p.(Thr62Ala), for which both parents were heterozygous, confirming autosomal recessive inheritance. Commencement of a ketogenic diet resulted in improvement of his seizures and slow gain in development. It also resulted in gradual disappearance of acanthocytes from his peripheral blood. This case describes a rare case of classical GLUT-1DS, autosomal recessively inherited, due to a novel mutation. The acanthocytosis in his blood smear is another rare association minimally reported in GLUT-1DS. The cause of his abnormal red blood cell morphology is unclear. It is possibly related to cation leakage reported in some rare mutations of the SLC2A1 gene needs reference.

Overdiagnosis of lobular carcinoma of breast- A review of histomorphological features and immunohistochemistry: A case series

: Invasive lobular carcinoma (ILC) accounts for 5%–15% of all invasive breast cancers (BCs) and is the second most common type of BC behind invasive ductal carcinoma (IDC) of no special type. ILC of the breast is characterized morphologically by small, noncohesive cells that infiltrate the stroma in a single-file pattern(Indian file pattern). ILC tumours display features associated with a good prognosis, being low grade, oestrogen receptor positive and is mainly associated with the complete loss of E-cadherin (E-cad) expression.To review the cases of invasive lobular carcinoma and to immunohistochemically categorize IDC and ILC.This is a retrospective study including all the modified radical mastectomy cases of invasive lobular carcinoma of breast reported in the department of Pathology of a tertiary care centre from January 2021 to January 2022. Histopathological and immunohistochemical analysis of those cases were reviewed.We encountered 10 cases of invasive lobular carcinoma of breast from January 2021 to January 2022. The average age of the patients was 55.9 years old (35–72). The classic presentation was a breast lump found in 100% of the cases. On physical examination, breast carcinoma was suspected in all the patients. The average size of the tumours was 4.5 cm (1.4– 9cm). Out of those 10 cases, 4 cases were right sided lesion and modified radical mastectomy was performed in all the 10 cases. All the 10 cases were diagnosed as invasive lobular carcinoma on histopathology and review of those cases showed 7 out of 10 cases to be IDC. Those cases showed pitfalls in histomorphological analysis which were later confirmed by immunohistochemistry. The findings are presented in the study.Our study found that there was a histomorphological pitfall in the diagnosis of IDC. In ambiguous cases with histologically equivocal features, a strong, complete, membranous E-cadherin expression may help in resolving the problem and in aiding in the subclassification of invasive breast carcinoma.