Primary Presenting Symptom Research Articles

Primary aldosteronism with hypokalemic rhabdomyolysis: a case report and review of the literature

BackgroundHypokalemic rhabdomyolysis is a rare clinical manifestation of primary aldosteronism, making its diagnosis challenging, particularly when it becomes the primary presenting symptom. Herein, we present a case of primary aldosteronism with hypokalemic rhabdomyolysis and conduct a related literature review.Case presentationWe report the case of a 54-year-old Chinese male patient who presented with intermittent weakness over the past year and was admitted with sudden limb paralysis for 2 days. The final diagnosis was primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. By reviewing the related Chinese and English literature, we noticed that only a few cases were published since 1978. After excluding irrelevant literatures, we summarized and analyzed 43 patients of with primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. All patients showed good recovery, with normalized blood potassium levels, and a majority achieved normalized blood pressure. Some patients still required medication for blood pressure control.ConclusionsPrimary aldosteronism rarely causes rhabdomyolysis; the occurrence of severe hypokalemia and rhabdomyolysis should prompt consideration of primary aldosteronism in the differential diagnosis. Early detection and treatment are crucial for determining patient prognosis.

Spectrum of neurodegenerative disorders in neurology outpatient department: A cross-sectional study.

Neurodegenerative disorders (NDDs) are a growing global health concern with a rise in prevalence with the aging population, leading to increased healthcare utilization and costs. Understanding its prevalence is crucial for effective diagnostics and resource allocation, especially in developing nations with limited resources. This study aims to explore the frequency and types of NDDs, while also collecting demographic, clinical, and neuro-radiological data from patients with NDDs attending a tertiary care hospital in Nepal. This was a single-center based cross-sectional descriptive study conducted at a Neurology outpatient department in a tertiary level hospital in Nepal in which patients aged 18 and above diagnosed with NDDs (May 2023-July 2023) were included. Data were collected and analyzed in SPSS Inc. This study has been presented by the STROBES guidelines. The mean age of the 71 patients included in the study was 65.6 ± 13.3 years. Parkinsonian disorder (n = 41, 57.7%) was the most common NDD diagnosed. Patients belonging to the age group 60-79 years represented 62% of all outpatient visits. Tremors of the upper extremity and impairment of memory were the most commonly encountered first symptoms at onset. Predominant cognitive changes in our study were memory impairment and mood changes. Extrapyramidal features such as gait disturbance, resting tremor, rigidity, and bradykinesia were present. More than half of the patients had age-related cerebral atrophy on neuroimaging followed by chronic small vessel ischemic changes. Diagnosing NDDs poses challenges, and our study underscores Parkinsonian disorder, specifically Parkinson's disease, as the prevailing neurodegenerative condition in our population. Emphasizing its prevalence among the elderly, particularly with tremors as the primary presenting symptom, highlights the necessity for targeted interventions in this demographic.

EVALUATION OF ALVARADO SCORE IN DIAGNOSIS OF ACUTE APPENDICITIS

Background: Abdominal pain is frequently caused by acute appendicitis, which can be diagnosed early and result in a lower morbidity and death rate. Improved diagnostic procedures should minimize the progression to complicated appendicitis as well as reduce the number of unwanted surgical interventions. However, even with the advancements in diagnostic laboratory tests and contemporary radiographic imaging, appendicitis diagnosis is still primarily clinical. Different scoring methods were developed to reduce the negative appendectomy rate and raise the positive diagnosis rate of appendicitis such as Alvarado score. The present study aimed to evaluate the sensitivity and specificity of the Alvarado score as a method for the diagnosis of acute appendicitis. Methods: A total of 146 operated cases of appendectomy in Zawia Medical Center, Libya were studied. All patients presented during a period from July 2018 to July 2019 with symptoms and signs of acute appendicitis, and after that, they were operated on by the conventional method of open appendectomy. The relevant data was collected and analyzed, and the efficiency of the Alvarado scoring system was assessed by calculating sensitivity, positive predictive value, and negative appendectomy rate. Results: In this study, 100% of patients reported pain as their primary presenting symptom; presentations occurred between one and seven days, with a mean of two days; 100% of patients had surgery; and the overall negative appendectomy rate in Alvarado ≥7 was 5% and 72.5% was the positive predictive value (PPV).Conclusion: Our findings suggest that the Alvarado score has a very high positive predictive value, i.e., diagnostic accuracy. Also, with the help of the Alvarado score, we can reduce the number of negative appendectomies. Besides that, this scoring system is an easy, simple, cheap, reliable, safe, and fast tool in the preoperative diagnosis of acute appendicitis and can work effectively in routine practice.

Epidemiological, Clinical, and Evolutionary Aspects of Severe Obstructive Acute Renal Failure Requiring Dialysis in the Nephrology Department of the University Hospital of Brazzaville

Introduction: Obstructive anuria represents a medical and surgical emergency, sometimes necessitating immediate extrarenal replacement therapy. Our study aims to delineate the profile of hemodialyzed patients with obstructive acute renal failure (OARF), detailing indications for hemodialysis and observing the course of the condition. Patients and Methods: This retrospective study covers the period from 2019 to 2022, encompassing all patients with OARF requiring emergency dialysis at the Nephrology Department of the University Hospital of Brazzaville. Data analysis was performed using EPI Info software version 3.3.2 (CDC, Atlanta, USA). Results: The study involved 39 patients, with 69.23% being male. The average age was 58.10 years, and oliguria was the primary presenting symptom (82%). Tumoral obstruction accounted for 76%, while lithiasic obstruction constituted 14%. Two cases of retroperitoneal fibrosis were observed (2.8%). Neoplastic origins included prostate, bladder, cervical, and rectal cancers in 46.67%, 33.33%, 16.67%, and 3.33% of cases, respectively. Indications for hemodialysis were poorly tolerated uremia, acidosis, hyperkalemia, and pulmonary edema in 79.1%, 38.57%, 19.49%, and 13.21% of cases, respectively. The mortality rate was 25.64%. Conclusion: The reliance on hemodialysis in obstructive anuria underscores a delay in patient management. Emergency treatment revolves around urinary tract drainage, followed by addressing the underlying cause. Prevention hinges on early and adequate management of various causal pathologies.

Forgetfulness as the primary presenting symptom of type A acute aortic dissection.

Acute aortic dissection (AAD) is the most common lethal disease affecting the aorta. Neurological symptoms have been linked to AAD in some patients. Although aortic dissection patients have previously been shown to present with neurological symptoms, AAD with forgetfulness as the first manifestation is extremely rare. To increase the awareness of AAD among clinicians, we report the first case of a male Chinese patient with AD presenting with forgetfulness as the initial symptom. A 53-year-old man presented to the emergency department with forgetfulness. Based on the concept that "time is brain," stroke was initially considered in the differential diagnosis. The patient underwent emergency coronary angiography and was diagnosed with acute myocardial infarction. After contrast-enhanced computed tomography angiography, the patient was finally diagnosed with AAD. Because valuable time was lost in diagnosis rather than treatment, optimal timing for surgery missed. The patient died following an aortic dissection rupture while waiting for emergency surgery. When forgetfulness cannot be completely accounted for in patients presenting with acute myocardial infarction, AAD should be considered. We believe that this case report contains a worthwhile clinical lesson for clinicians.

424. High Prevalence of Neuropsychiatric Symptoms and Pre-COVID-19 Mental Health Disorders in Patients with Post-Acute COVID

Abstract Background Individuals with post-acute COVID syndrome (PAC), also known as long-COVID, have new or continuing symptoms lasting more than 1 month from COVID-19 infection. Patients may present with neuropsychiatric (NP) and non-NP symptoms. Whether prior mental health disorders correlate with NP symptoms is unknown. The study aims were to describe the demographics, clinical factors, comorbid conditions, and presenting symptoms of PAC. Methods We included patients evaluated at Baystate Health PAC clinic from January 2021-April 2022, with prior COVID-19 infection and new or persistent symptoms of at least 6 weeks. We defined the primary presenting symptoms as NP (cognitive dysfunction (brain fog), anxiety, or depression) or non-NP (dyspnea, fatigue, dizziness, palpitations). The clinician’s diagnostic impression was recorded and characterized as NP or non-NP. Demographics Results We randomly selected 150 of 250 clinic patients for chart review. Most were women, 117 (78%); mean age was 52. Most 106 (71%) had mild acute COVID illness; 36 (24%) were hospitalized. 49% (n=73) had a pre-existing mental health disorder: mood disorder (depression/bipolar) 26 (17%), anxiety 18 (12%), both anxiety and mood disorder 27 (18%). The most common presenting symptoms in order of frequency were fatigue, dyspnea, brain fog, anxiety, depression, and palpitations. 106 (71%) had at least 1 NP presenting symptom or combination of NP symptoms; cognitive dysfunction with anxiety in 23 (15%), and cognitive dysfunction with anxiety and mood disorder in 13 (9%). The clinician's final diagnostic impression was fatigue (47%), cognitive dysfunction (36%), anxiety (29%) depression (33%) and PTSD (3%). A NP diagnosis was made in 81 (54%). Primary Symptoms Primary Diagnosis Conclusion The majority of PAC clinic patients were female and had mild COVID illness. We noted a high prevalence of pre-existing mental health disorders. More than two-thirds presented with one or more NP symptom. Further studies should explore the association of pre-COVID mental health disorders with PAC. Disclosures All Authors: No reported disclosures

THU454 Paget’s Disease Of Bone As An Atypical Cause Of Headaches

Abstract Disclosure: A.N. Delgado Nieves: None. C. Gomez Hernandez: None. R. Nassar: None. P.A. Goulden: None. Background: Worsening Paget’s disease of bone (PDB) typically manifests as pelvic or spine bone pain. Headache as a primary presenting symptom of PDB is uncommon. Case Presentation: A 54-year-old female with Paget’s disease on alendronate presented at our institution with progressively worsening headaches, frontal bossing, alkaline phosphatase (ALP) of 1,668 U/L, and serum C-telopeptide of 986 pg/mL, indicating active disease. Subsequently, a bone scan confirmed active PDB, and zoledronic acid injection was administered in clinic. When re-evaluated, repeat laboratory values showed an ALP of 191 U/L, serum C-telopeptide of 511 pg/mL, PTH of 103 pg/mL, and vitamin D of 25.6 ng/mL, consistent with improved yet persistently active disease. Likewise, the patient complained of ongoing headaches, dizziness, hearing loss, and jaw pain. An X-ray of the skull showed diffuse expansile mixed Paget's disease, predominantly sclerotic, involving the calvarium with some basilar invagination noted. Subsequent whole-body bone scan showed intensely increased uptake in the skull. Audiology evaluation revealed slight to mild sensorineural hearing loss in bilateral ears. A second dose of zoledronic acid infusion was administered, and the patient’s ALP and C-telopeptide decreased to normal levels. Conclusion: We describe a case of advanced Paget’s disease presenting with persistent headaches. Clinicians should identify Paget’s disease as an atypical cause of headaches to provide appropriate treatment and prevent complications of skull involvement such as hearing loss. Presentation: Thursday, June 15, 2023

Histopathological spectrum of ovarian tumors in tertiary care centre of central India

Abstract Background: Ovarian tumors are common, ranking third in frequency after cervical and uterine cancer. According to the World Ovarian Cancer Coalition Atlas 2018, India has the second-highest incidence of ovarian carcinoma worldwide. In Chhattisgarh, ovarian malignancy accounts for 5.21% of all malignancies in females. Materials and Methods: The present descriptive observational cross-sectional study encompassed 108 cases of ovarian tumors. A histopathological examination was done, and data was compiled and analyzed. Observations and Results: Among the 108 ovarian tumors, 59.25% were noted in women aged 40–59 years. The primary presenting symptom was abdominal pain, reported by 57.40% of the cases. The majority of ovarian tumors were unilateral, the right side being more common. Primary ovarian tumors constituted 91.66%, while 8.33% were classified as secondary or metastatic ovarian tumors. Of 108 cases, 55.5% were malignant, 40.7% were benign, and 3.7% were borderline tumors. Surface epithelial tumors accounted for 73.14% of the cases; germ cell tumors constituted 9.25%, sex cord-stromal tumors were 7.4%, and mesenchymal tumors were 1.85%. Among surface epithelial tumors, serous cystadenocarcinoma was most common. Mature cystic teratoma was the most common germ cell tumor, and granulosa cell tumor was the most common sex cord-stromal tumor. Conclusion: Ovarian tumors were more commonly seen in the peri and postmenopausal age group. Primary malignant epithelial tumors were the most common type of ovarian tumor. The histopathological evaluation of ovarian tumors remains the gold standard for definitive diagnosis.

Case Report: A successful treatment approach of rituximab and azathioprine for pemphigus vulgaris

Pemphigus Vulgaris is an uncommon autoimmune skin disorder that is characterized by persistent and blistering lesions. In approximately 50% of patients, mucous membrane erosions are the initial symptom. The primary presenting symptom is often oral mucosal erosions. Affected individuals frequently experience flaccid blisters and erosions on healthy skin and mucous membranes, and other areas of the body may also be affected. This condition is the result of autoantibodies that target desmosomal antigens. We are presenting a case of a 28-year-old male who presented to the hospital with fluid-filled lesions on his forehead and in his oral cavity. A skin biopsy was performed, and he was diagnosed with pemphigus vulgaris. Initially, he was started on a combination of steroids and azathioprine, but he did not respond to this treatment regimen. However, he was successfully treated with injection rituximab. Rituximab has been found to be an effective treatment approach towards pemphigus vulgaris. It can help prevent further complications and reduce the severity of the disease. By targeting the autoantibodies that cause the disorder, rituximab can help control the patient's symptoms and improve their quality of life. It is important to note that early diagnosis and treatment can play a critical role in the management of pemphigus vulgaris.

298 An atypical presentation of Creutzfeldt-Jakob Disease as a stroke mimic—experience from an Irish tertiary centre

Abstract Background Sporadic Creutzfeldt-Jakob Disease (sCJD) is a rare neurodegenerative prion disease that presents with symptoms of rapid neuropsychiatric decline including dementia, behavioural abnormalities and loss of higher cortical function. Patients commonly present with rapidly-progressive neuromotor symptoms such as ataxia and myoclonus. Very few cases of CJD have been reported in which the patient initially presents with stroke symptoms such as hemiparesis as their primary presenting symptom. We present a case of a 56 year old male who initially presented to the stroke unit with waxing and waning left sided weakness and a non-corresponding ipsilateral left-sided acute parietal infarct on diffusion-weighted MRI. Over four weeks, his condition progressively worsened with declining cognitive function, motor dysfunction, sphincter dysfunction and eventual death. Methods Methods used to confirm the suspected diagnosis included: (1) Periodic sharp wave complexes are the most classical EEG finding for CJD and are seen in two third of the patients diagnosed with sporadic CJD, (2) The presence of the 14–3-3 protein in CSF has been found to be a sensitive and specific marker for sporadic CJD, (3) Neuroimaging plays a vital role in the diagnosis of CJD including serial MRIs and EEG sufficient to exclude other differential diagnoses. Results MRI brain revealed an acute cortical infarct within left parietal lobe measuring 3 mm.A n EEG demonstrated periodic sharp wave complexes occurring maximally in the left centro-temporal region. EEG finding was suggestive of a diagnosis of a prion disease. CJD Surveillance Unit confirmed the cerebrospinal fluid analysis was positive for RT-QuIC indicating sporadic CJD. Conclusion In cases of patients presenting with clinical signs and symptoms of a stroke with subsequent ipsilateral neurological findings on MRI, CJD should be included as a differential diagnosis. Additionally, a lumbar puncture, not routinely recommended in stroke patients, should be performed early to aid in early detection of CJD in order to confirm diagnosis and optimise the ceiling of care.

Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment

BackgroundSporadic late onset nemaline myopathy is a rare, progressive muscle disease, presenting in adulthood, mainly affecting proximal limb and bulbar muscles. Muscle biopsies show characteristic nemaline rods. The putative mechanism is considered immune-related. Other manifestations aside from neuromuscular symptoms have not been described previously.Case presentationWe present a case with atypical sporadic late onset nemaline myopathy (SLONM) of a non-HIV, non-MGUS subtype, where skin manifestations preceded neuromuscular symptoms, and a residual thymus with the histology of thymic follicular hyperplasia was detected during the diagnostic workup. Thorough dermatological investigations could not explain the skin presentations. Muscle biopsy revealed variation in fiber diameter, ragged-red and COX-negative fibers associated with discrete fibrosis. Electron microscopy detected atrophic muscle fibres with disorganization of the myofibrils, nemaline rods and abnormal mitochondria. Single-fiber EMG suggested signs of a neuromuscular transmission defect, EMG showed signs of myopathy. Analyses of antibodies associated with myasthenia gravis were negative. The patient showed improvement after intravenous immunoglobulin treatment regarding both the skin and the muscle symptoms.ConclusionsOur case highlights the heterogeneity of SLONM with its varied spectrum of presentation. A unique combination of dermatological symptoms and SLONM could be seen with skin lesions as primary presenting symptoms. An association can be considered between the different manifestations, presumably based on immune etiology, where immunosuppressive therapy has been beneficial.

Assessment of the Peradeniya Organophosphorus Poisoning Scale as a Severity and Prognostic Marker in Patients With Acute Organophosphorus Poisoning Presenting to an Emergency Medicine Department.

Background Organophosphorus (OP)compound poisoning is the most common toxicological medical emergency in India, where the majority of the population lives on agriculture. The Peradeniya Organophosphorus Poisoning (POP) scale can be a simple and effective system to determine the need for ventilatory support early in the course of admission. The objective of this study was to evaluate the prognostic value of the clinical parameters of the POP scale in predicting the severity of organophosphorus compound poisoning, by comparing early predicted patient prognosis evaluated by the POP scale on admission with the patient outcome. Methods This was a prospective observational study of acute organophosphorus compound poisoning presenting to the emergency department of Sir Sayajirao General (SSG) Hospital and Medical College, Baroda. We included patients over 12 years of age with a history of, or symptoms suggestive of, acute OP poisoning. The patients receivedinitial resuscitation according to airway, breathing, circulation, disability, and exposure simultaneously with decontamination and gastric lavage by Ryle's tube. They also received the standard antidotes of atropine and pralidoximeimmediately. We appliedthe POP scale to each patient uponadmission and graded the poisoning severity as mild (a POP scale score of 0-3), moderate (4-7), or severe (8-11). This scale assessed the patients' need for mechanical ventilation and ICU management and their final clinical outcome. Results We enrolled 60 patients in the study. Most of themwere under 20 years of age, and 65% of them were male. Social laborers were the major population, and most of them had suicidal intention. Monocrotophos was the most commonly consumed OP compound. Most of the patients were brought to the hospital within two to sixhours of consumption. Vomiting and profuse secretions were the primary presenting symptoms. A majority of the patients (47) fell into the mild POP scale range. None of the patients had severe poisoning. Out of 60 patients, 49 patients improved and 11 patients died. Seven patients (15%) with mild POP scale scores and four patients (31%) with moderate scores died. Overall, 61.7% of patients with mild POP scale scores and 100% of patients with moderate scores needed mechanical ventilation. Conclusion The POP scale is an effective tool to measure severity and make a prognosisin patients with acute OP compound exposure. It may be asimple, inexpensive tool that may help predict the need for ventilatory support at admission. Early identification of danger signs may help in the reduction of mortality and morbidity when resources are limited. However, we found incorporating other clinical parameters and biochemical markers provides better prognostication than using the POP scale alone.

RefluxStop – A Novel Device to Address Gastroesophageal Reflux Disease in the Context of Esophageal Hypomotility

Abstract Background RefluxStop is a non-active, implantable medical device intended to reduce esophageal acid exposure in patients with gastroesophageal reflux disease (GERD). RefluxStop does not affect the esophageal lumen and thus might also be suited for patients with esophageal hypomotility. Aims To report short-/midterm functional outcomes after implantation of RefluxStop. Methods All patients who received laparoscopic implantation of the RefluxStop device from 09/2018-12/2022 in a university hospital were included for retrospective analysis. Subjective (GERD-HRQL-questionnaires; after six weeks and every six-month thereof) and objective data (24h-pH-manometry, barium swallows and upper endoscopies) are reported as functional outcome parameters. Results Forty-five patients were included. Median age was 49.3y (min 28.1– max 76.8), median Body Mass Index 28kg/m2 (19-34), and 21 patients were female (46.7%). Nine patients (20%) had esophagitis Los Angeles grade C or more, 3 had non-acidic reflux (7%), and 32 (71%) had esophageal motility disorders. Primary presenting symptoms were typical in 31(69%), pain or dysphagia in 5(11%), respiratory in 8(18%) and nausea in 1 patient (2%). GERD-HRQL score was significantly reduced from baseline to 6 weeks postop (23.9 and 4.3 (p < 0.001)) and to last follow-up (6.8, p = 0.021). In the last follow-up, after a median of 3.2y, primary presenting symptoms were gone in 31(69%), improved in 6(13%), and stayed the same in 2(4%). Typical symptoms were gone or improved in 34 of 37 patients (92%), dysphagia and pain in 12 of 15 patients (80%), and respiratory symptoms in all of 14 patients. De novo bloating occurred in 1 patient and was improved or gone in 5 patients; no diarrhea was seen. Conclusions RefluxStop shows promising results over four years in a challenging patient population burdened with GERD and esophageal motility disorders.

Study of Clinicopathological Pattern and Outcome of Adnexal Masses in Females from Puberty to Perimenopause at LD Hospital

Background: An adnexal mass, which refers to a mass located in the ovary, fallopian tube, or surrounding connective tissues, is a common problem in gynecology. A significant number of females present with adnexal masses, and the clinicopathological pattern and outcome of these masses are not well characterized. Therefore, a study was undertaken to evaluate the clinicopathological features and outcomes of adnexal masses in females from puberty to perimenopause. Methods: This study was a prospective observational study that was conducted over a period of one and a half years in the postgraduate department of Obstetrics and Gynaecology at Lalla Ded Hospital, GMC Srinagar. Ethical clearance was obtained from the Institution Ethics Committee (IEC) prior to conducting the study. Results: For patients aged 12-20, the chief complaints were pain abdomen (66.7%) and menorrhagia (33.3%). For patients aged 21-30, the chief complaints were pain abdomen (70.3%), dysmenorrhea (11.1%), secondary infertility (7.4%), and incidental finding during LSCS (11.1%). For patients aged 31-40, the chief complaints were pain abdomen (96%) and incidental finding during LSCS (4%). For patients aged 41-50, the chief complaints were distension and menorrhagia (both 50%). The chief complaints associated with these masses include Pain abdomen, Dysmenorrhea, Secondary infertility, Menorrhagia, Distension, Polymenorrhea, and Incidendal finding. The percentage of patients associated with each type of adnexal mass varies from 1% to 100%, depending on the type and chief complaint. Conclusion: The study found that adnexal masses were more prevalent in married women aged 21 to 40 years, with abdominal pain being the primary presenting symptom. Most of the masses were less than 100cc, and the majority of neoplastic lesions were surface epithelial tumors. The study also showed that non-neoplastic lesions were more common than neoplastic lesions, with only one malignant tumor found among the neoplastic lesions. Keywords: Adnexal mass, ovarian cancer, clinical presentation, histopathology

Targeting earlier diagnosis: What symptoms come first in Degenerative Cervical Myelopathy?

Degenerative cervical myelopathy (DCM) is a common and disabling condition. Early effective treatment is limited by late diagnosis. Conventional descriptions of DCM focus on motor and sensory limb disability, however, recent work suggests the true impact is much broader. This study aimed to characterise the symptomatic presentation of DCM from the perspective of people with DCM and determine whether any of the reported symptoms, or groups of symptoms, were associated with early diagnosis. An internet survey was developed, using an established list of patient-reported effects. Participants (N = 171) were recruited from an online community of people with DCM. Respondents selected their current symptoms and primary presenting symptom. The relationship of symptoms and their relationship to time to diagnosis were explored. This included symptoms not commonly measured today, termed 'non-conventional' symptoms. All listed symptoms were experienced by >10% of respondents, with poor balance being the most commonly reported (84.2%). Non-conventional symptoms accounted for 39.7% of symptomatic burden. 55.4% of the symptoms were reported as an initial symptom, with neck pain the most common (13.5%). Non-conventional symptoms accounted for 11.1% of initial symptoms. 79.5% of the respondents were diagnosed late (>6 months). Heavy legs was the only initial symptom associated with early diagnosis. A comprehensive description of the self-reported effects of DCM has been established, including the prevalence of symptoms at disease presentation. The experience of DCM is broader than suggested by conventional descriptions and further exploration of non-conventional symptoms may support earlier diagnosis.

Medical Management of Dental Abnormalities Related to Congenital Hypothyroidism in a Cat.

A 5-month-old intact male domestic shorthair cat presenting for routine vaccinations was diagnosed with congenital hypothyroidism. His primary presenting symptom was incomplete dentition with delayed dental eruption. Congenital hypothyroidism was confirmed by baseline thyroxine (T4), free T4, and thyroid-stimulating hormone testing. The cat was treated with oral thyroid hormone supplementation and 16 weeks after initiation of therapy the cat was clinically normal with age-appropriate dentition. No surgical intervention was necessary to achieve normal dental eruption.

171: PULMONARY THROMBOSIS IN PATIENTS WITH CONGENITAL HEART DISEASE

Introduction: Pulmonary thrombosis (PT) is increasingly being diagnosed in the pediatric population. Congenital heart disease (CHD) patients, especially those undergoing single ventricle palliation (SVP), have a unique interplay between systemic and pulmonary circulations. Cardiac output in this population is dependent upon low-resistance pulmonary circulation to facilitate passive systemic blood flow to the lungs. Patients with CHD can have significant effects from PT including shock and death. We described characteristics of patients with CHD diagnosed with PT at our institution. Methods: We performed a retrospective chart review of the cases of PT associated with CHD at Texas Children’s Hospital from 2017-2022 Results: Out of 189 patients identified with PT, 13 patients had CHD. Four patients were excluded due to either insufficient data or because their primary diagnosis was ultimately endocarditis, not PT. Five patients (56%) had undergone SVP, with two following second stage of palliation (Cavo pulmonary anastomosis) and 3 during the third stage of palliation (Fontan). SVP patients developed PT while on anticoagulation (AC)per institutional practice standards. Two patients had PDA thrombus with subsequent extension to the pulmonary artery (PA), another had PDA dependent right PA flow and developed clot in right PA. One patient developed thrombus in the PA outpouching at site of Tetralogy of Fallot repair. The population primarily consisted of infants under the age of 1 year (67%). The primary presenting symptom was hypoxia (67%) with two presenting with hypoxemic bradycardic arrest (22%). All patients were initiated on systemic AC. Seven patients (78%) underwent interventional management including attempted mechanical thrombectomy with or without site-directed thrombolysis, two of whom (22%) also required ECMO cannulation for hemodynamic compromise. Two patients were managed with AC alone. All patients survived to discharge. Conclusions: This review demonstrates the importance of identifying PT in the pediatric CHD population and the need for aggressive interventional management and anticoagulation. The survival of all patients in this cohort is likely secondary to a multidisciplinary systemic approach. A high index of suspicion should be maintained, especially in the single ventricle population.

Long-term results of upfront, single-session Gamma Knife radiosurgery for large cystic vestibular schwannomas.

Anecdotally, cystic vestibular schwannomas (cVSs) are regarded to have unpredictable biologic activity with poorer clinical results, and most studies showed a less favorable prognosis following surgery. While stereotactic radiosurgery (SRS) is a well-established therapeutic option for small- to medium-sized VSs, cVSs are often larger, thus making upfront SRS more complicated. The purpose of this retrospective study was to assess the efficacy and safety of upfront SRS for large cVSs. The authors reviewed the data of 54 patients who received upfront, single-session Gamma Knife radiosurgery (GKRS) with a diagnosis of large cVS (> 4 cm3). Patients with neurofibromatosis type 2, multiple VSs, or recurrent VSs and < 24months of clinical and neuroimaging follow-up were excluded. Hearing loss (48.1%) was the primary presenting symptom. The majority of cVSs were Koos grade IV (66.7%), and the most prevalent cyst pattern was "mixed pattern of small and big cysts" (46.3%). The median time between diagnosis and GKRS was 12months (range, 1-147months). At GKRS, the median cVS volume was 6.95 cm3 (range, 4.1-22 cm3). The median marginal dose was 12Gy (range, 10-12Gy). The mean radiological and clinical follow-up periods were 62.2 ± 34.04months (range, 24-169months) and 94.9 ± 45.41months (range, 24-175months), respectively. At 2, 6, and 12years, the tumor control rates were 100%, 95.7%, and 85.0%, respectively. Tumor shrinkage occurred in 92.6% of patients (n = 50), tumor volume remained stable in 5.6% of patients (n = 3), and tumor growth occurred in 1.9% of patients (n = 1). At a median follow-up of 53.5months, the pre-GKRS tumor volume significantly decreased to 2.35 cm3 (p < 0.001). While Koos grade 3 patients had a greater possibility of attaining higher volume reduction, "multiple small thick-walled cyst pattern" and smaller tumor volumes decreased the likelihood of achieving higher volume reduction. Serviceable hearing (Gardner-Robertson Scale I-II) was present in 16.7% of patients prior to GKRS and it was preserved in all of these patients following GKRS. After GKRS, 1.9% of patients (n = 1) had new-onset trigeminal neuralgia. There was no new-onset facial palsy, hemifacial spasm, or hydrocephalus. Contrary to what was believed, our findings suggest that upfront GKRS seems to be a safe and effective treatment option for large cVSs.

Progressive sensory ataxia and breast implant rupture, an uncommon presentation of a debated concept: a case report

BackgroundAutoimmune Syndrome Induced by Adjuvants (ASIA) is a concept introduced by Shoenfeld to group various disease entities believed to be triggered by an infection, silicone exposure or other external stimuli. A causal link between the use of silicone and the development of autoimmune diseases and lymphoma has been suggested in the past. Sjögren’s Syndrome (SS) is one of the autoimmune diseases that has been postulated as an example of ASIA syndrome. Although typically characterized by sicca, SS can manifest as a ganglionopathy as the primary presenting symptom. To our knowledge, this is the first case report in which a ganglionopathy unveiled an underlying SS in the context of a possible ASIA syndrome.Case presentationWe describe a case of a 44-year-old woman who developed rapidly progressive sensory loss in the 4 limbs with a walking impairment due to the severe sensory ataxia. After extensive work-up, she was diagnosed with a ganglionopathy as the first symptom of SS, and the concurrent diagnosis of a bilateral breast implant leakage with severe inflammation due to silicone bleeding. After surgical removal of the prostheses and initiation of immunosuppressive therapy, stabilization of symptoms was achieved.ConclusionThis case report brings to attention the possibility of a sensory ganglionopathy as first and isolated symptom of SS. The occurrence of SS in the setting of ASIA stir up the discussion about the safety of silicone breast implants.

An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy.

People with cloacal malformation and 46,XX cloacal exstrophy are at risk of developing Müllerian outflow tract obstruction (OTO). Management of OTO requires expertise of many medical and surgical specialties. The primary presenting symptom associated with OTO is cyclical and later continuous pain and can be initially quelled with hormonal suppression as a temporizing measure to allow for patient maturation. The decision for timing and method of definitive treatment to establish a patent outflow tract that can also be used for penetrative sexual activity and potential fertility is a complicated one and incredibly variable based on patient age alone. To understand the management approach to OTO, we put forth five phases with associated recommendations: (1) caregiver and patient education and evaluation before obstruction; (2) presentation, diagnosis, and symptom temporization; (3) readiness assessment; (4) peri-procedural management; (5) long-term surveillance. This review will emphasize the importance of interdisciplinary team management of the complex shared medical, surgical, and psychological decision making required to successfully guide developing patients with outflow obstruction secondary to cloacal malformations and cloacal exstrophy through adolescence.