Clinical Workup Research Articles

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.

Genetic variants in Folliculin interacting protein 1 (FNIP1) were recently discovered as monogenic causes for immunodeficiency and cardiomyopathy, with only a few patients diagnosed thus far. In this study, we describe a patient harboring a novel genetic variant in FNIP1 causing immunodeficiency with cardiac involvement. Clinical and immunological workups were performed. Genetic evaluation utilizing whole-exome sequencing (WES) and Sanger sequencing was conducted. The index patient (subject II-4) presented with hypertrophic cardiomyopathy, recurrent infections, and chronic diarrhea during infancy. Immune workup revealed agammaglobulinemia and a lack of B lymphocytes. Genetic evaluation identified a homozygous 13-bp duplication variant in FNIP1 (c.52_64dupGCGCCCGGCCGCG, p. Asp22GlyfsTer21) resulting in a frameshift in exon 1/18. She was treated with supplemental intravenous immunoglobulins (IVIg) with good control of sinopulmonary and gastrointestinal manifestations. Her sibling (subject II-1) had similar clinical features, along with dysmorphic facial features and hypotony, and succumbed to cardiogenic shock at the age of 2 months, prior to genetic evaluation. Diagnosis of novel immunodeficiencies promotes our understanding of the immune system, enabling genetic counseling as herein, and may assist in the development of novel medical therapies in the future. FNIP1 loss-of-function should be considered in patients presenting in infancy with cardiac manifestations along with agammaglobulinemia (and B-cell lymphopenia).

Management of acute community-acquired bacterial meningitis : Leading symptoms of impaired consciousness and fever with/without headache

Simultaneous symptoms of impaired consciousness and fever are suspicious for acute bacterial meningitis. This is amedical emergency and prompt action is essential. The clinical workup for suspected bacterial meningitis as well as treatment recommendations and differential diagnosis for the main symptoms of decreased vigilance and fever are described. Evaluation of selective literature using PubMed (U.S. National Library of Medicine®, Bethesda, MD, USA), especially taking into account the AWMF (Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften) guideline of community-acquired bacterial meningoencephalitis in adults. Bacterial meningoencephalitis presents with the main symptoms of impaired consciousness, nuchal rigidity, headache and fever, which may, however, be absent in some cases. The diagnosis is confirmed by investigation of the cerebrospinal fluid. Further diagnostics include emergency laboratory tests, blood cultures, microbiological examinations, and cranial computed tomography (CCT). Empirical treatment should be administered promptly. Acute bacterial meningitis must be considered in cases of loss of vigilance and fever, requiring arapid, structured approach in the emergency department.

Ocular myasthenia gravis and thyroid eye disease: double trouble.

A 60-year-old male patient with a previously unremarkable medical history presented with unilateral eyelid ptosis and binocular diplopia in the past year. Clinical and laboratory workup confirmed the diagnosis of ocular myasthenia gravis. In addition, further workup with orbital MRI performed due to exophthalmos and unilateral ophthalmoplegia demonstrated findings compatible with thyroid eye disease, which were further verified by antibody testing. The unusual concurrent appearance of ocular myasthenia gravis and thyroid eye disease is presented while illustrating the hallmark clinical, laboratory, and imaging findings relevant to both diseases.

Adult Asymmetrical Tonsils: Case Series

Asymmetrical tonsil enlargement in adults may stem from various underlying pathologies, including infectious, inflammatory, and neoplastic processes. Differential diagnoses may include but are not limited to, chronic tonsillitis, peritonsillar abscess, tonsillar hypertrophy, lymphoma, and squamous cell carcinoma. Each differential presents unique clinical features, diagnostic challenges, and management considerations, highlighting the need for a comprehensive approach to patient assessment. This case series will explore the clinical presentations, diagnostic workup, and therapeutic interventions employed in managing adult patients with asymmetrical tonsil enlargement. We aim to facilitate early detection, appropriate treatment, and optimal outcomes for affected individuals by emphasizing the importance of considering a broad range of differentials.

Consultation for Chronic Rhinosinusitis With Nasal Polyps and Asthma: Clinical Presentation, Diagnostic Workup, and Treatment Options

Consultation for Chronic Rhinosinusitis With Nasal Polyps and Asthma: Clinical Presentation, Diagnostic Workup, and Treatment Options

Etiology and Characteristics of Pseudotumoral Lesions and Tumefactive Demyelination in Multiple Sclerosis

IntroductionCerebral pseudotumoral lesions (CPTL) (>2cm) on magnetic resonance imaging (MRI) may pose a clinical challenge. A majority will occur in the context of multiple sclerosis (MS) – also referred to as tumefactive demyelinating lesions (TDL). The aim of this study was to define and analyze clinical, MRI, and paraclinical data for MS and non-MS patients. MethodsThis prospective study included adult patients with CPTL on brain MRI referred to the Neurology Clinic, Belgrade as a tertiary University Center (2019-2023) for clinical workup and treatment. Demographic, clinical, MRI, and paraclinical data were reviewed. ResultsThis study included 75 patients, of which 58.7% had MS. Fourteen patients had previously been diagnosed with MS, while 30 (68.2%) received the diagnosis of MS in the later course. The concordance of initial and final diagnoses was 52%. Relapsing disease (p<0.001) and brainstem presentation (p=0.039) were significantly more common in MS patients. Headache (p= 0.008) and lethal outcome (p=0.014) were significantly more common in the non-MS group. Lesions were ring-like more frequently in the MS group (p<0.001), while patients in the non-MS group frequently displayed infiltrative (p=0.001) and nonspecific lesions (p=0.002). The presence of headache and megacystic morphology was associated with the presence of pathology other than MS while the relapsing disease was in favor of MS. ConclusionMultiple sclerosis was the most common cause of CPTL. Headache, relapsing course of disease, and megacystic morphology may help discern MS from non-MS pathology. These findings should be challenged in future studies examining larger cohorts.

Suspected nocardiosis in an immunosuppressed patient: a case report highlighting diagnostic challenges and management strategies

Nocardiosis is a rare but potentially fatal opportunistic infection caused by Nocardia species, predominantly affecting immunocompromised individuals. This case report details the clinical course, diagnostic workup, and management of a 63-year-old female with a history of renal transplantation. Initial investigations, including imaging studies, revealed multiple cavitary pulmonary nodules and a solitary brain lesion, raising concerns for disseminated infection. The diagnostic challenge was compounded by the broad differential diagnosis in this patient population, including fungal, mycobacterial, and other opportunistic infections. Empirical antimicrobial therapy was initiated, and subsequent microbiological confirmation of Nocardia asteroides from bronchoalveolar lavage specimens established the diagnosis. Despite initial therapeutic response, the patient developed worsening neurological symptoms indicative of CNS involvement, necessitating prolonged treatment with a combination of trimethoprim-sulfamethoxazole and imipenem. This report underscores the importance of early recognition, comprehensive diagnostic evaluation, and individualized therapeutic approaches in managing suspected nocardiosis in immunocompromised patients. Furthermore, it discusses the diagnostic pitfalls, highlights the need for a high index of suspicion, and reviews current therapeutic recommendations for both pulmonary and disseminated nocardiosis, providing a valuable reference for clinicians managing similar cases.

Differentiation and characterization of non-thymomatous ocular myasthenia gravis children with CT.

To compare thymic features using unenhanced computed tomography (CT) images between children with non-thymomatous ocular myasthenia gravis (OMG) and healthy children and determine the image feature cut-off values to allow differentiation of the two populations. We conducted a retrospective study involving 66 children who underwent chest CT, with 33 having non-thymomatous OMG and 33 healthy children without any abnormality. We recorded CT features of the thymus in each child, including the mean CT attenuation value, thymus area, area ratio, anteroposterior (AP) length, width (W), thickness (T), and transverse diameter (TD). These characteristics were analyzed to distinguish OMG from healthy controls. The receiver operating characteristic (ROC) analysis was used to clarify the best assessment, and the optimal cut-off values were determined. The mean CT attenuation value, the thymus area, area ratio, and TD were significantly different (P < 0.05) between the two groups. The mean CT attenuation value was the most significant characteristic in differentiating OMG and healthy controls (area under the curve [AUC] = 0.70). Using 50.41 as the cut-off value for mean CT attenuation, a specificity of 0.70 and sensitivity of 0.82 was observed for distinguishing the two groups (P = 0.003). Optimal differentiation was achieved by combining more than one characteristic including CT attenuation, thymus area, and TD with an optional area ratio (AUC = 0.72). Non-enhanced CT of the thymus complemented the clinical workup of children with non-thymomatous OMG. The cut-off values of the CT features may allow robust differentiation of OMG children.

Inflammatory back pain as an unusual manifestation of Takayasu arteritis: a case report.

Takayasu arteritis and spondyloarthritis are two rheumatological diseases whose co-existence is well-documented in the literature. Data on the presence of inflammatory back pain in Takayasu arteritis without a diagnosis of spondyloarthritis, however, is scarce. Here, we present a 33-year-old man who was admitted to the emergency department with acute-onset chest pain associated with left carotidynia, carotid bruit, and left arm claudication, normal electrocardiogram and computed tomography angiographic features suggesting Takayasu arteritis, including stenosis and occlusion of the aorta and its branches. Two years prior, he had undergone a clinical work-up for an inflammatory back pain accompanied by alternating buttocks pain, morning stiffness lasting more than half an hour, and heel pain. HLA-B27 status and magnetic resonance imaging of the sacroiliac joints were both negative. He was prescribed non-steroidal anti-inflammatory drugs and was placed on adalimumab 40 mg SC every two weeks but had to switch to etanercept two months before his emergency admission due to supply issues. Oral prednisolone was initiated at a dose of 60 mg/day with symptomatic improvement in both his inflammatory back pain and his chest pain, but he had to be switched to methotrexate and infliximab due to steroid side effects. Inflammatory aortitis should be considered as a possibility during the assessment of inflammatory back pain to mitigate the risks of delayed diagnosis.

Delays in Treatment for Temporal Encephaloceles and Cerebrospinal Fluid Leaks.

Lateral skull base defects (LSBD) pose a diagnostic challenge; however, early recognition and treatment are important to avoid sequelae. This study examines the impact of health care disparities associated with time to diagnosis and treatment for patients with LSBD. Multi-institutional retrospective cohort study at four U.S. tertiary centers from 2000 to 2022. Adult patients with a primary diagnosis of CSF leak or encephalocele were included. Multivariate regressions used to analyze how age, sex, race/ethnicity, insurance, language, zip code, distance to medical center, referral patterns, diagnostic workup, and clinical course affected time to diagnosis and treatment. In 127 patients with LSBD, mean time to treatment of CSF leak or encephalocele was 13.9 months. On average, patients waited 10.6 months from initial assessment to diagnosis and saw 2 providers prior to diagnosis. Approximately 91% (115) of patients had a CT scan, and 75% (95) had an MRI. Imaging did not influence time to treatment. Older age, public insurance, and number of providers seen were associated with delays. Non-English speakers (5% of 127) encountered treatment delays, although this was not statistically significant. Fifty-eight (46%) people had private insurance. The average traveled distance for care was 62.6 miles. Clinical presentation, race, zip code, imaging, myringotomy, beta-2 transferrin, and ED workup were not found to be associated with delays to care. There are significant delays in diagnosis and management of LSBD. Referral patterns did influence care. Health care disparities did not impact care; however, disparities and language barriers need to be studied further to determine contributions to delays in care.

Assessing the Diagnostic Value of Brain White Matter Hyperintensities and Clinical Symptoms in Predicting the Detection of CSF Venous Fistula in Patients with Suspected Spontaneous Intracranial Hypotension.

Spontaneous intracranial hypotension (SIH) due to CSF venous fistula (CVF) is increasingly recognized as a secondary cause of headaches, with symptoms often overlapping with primary headache syndromes such as migraine. While brain MRI studies have focused on features indicative of SIH, findings that support an alternate headache etiology, such as the bifrontal white matter hyperintensities (WMH) often seen in migraines, have not been explored in this context. This study assesses 1) the quantity and distribution of WMH and 2) the presenting clinical features in patients with and without CVF found on dynamic decubitus CT myelography (dCTM). 72 consecutive patients underwent clinical workup for SIH due to suspected CVF, including pre-procedural brain and spine MRI followed by dCTM. Brain imaging features were analyzed, including Bern score, quantitative WMH burden, and WMH distribution. Demographics and clinical symptoms present at the time of presentation were recorded. Imaging features were compared between groups with and without CVF using parametric or nonparametric comparisons according to variable normality. Multivariate logistic regression explored the relationships between imaging features, clinical symptoms, and the presence of CVF. The cohort included 40 patients with (CVF+) and 32 patients without (CVF-), with no significant age or sex differences. CVF+ patients had significantly higher Bern scores and significantly fewer WMH. There were significant differences in the frequencies of WMH patterns between groups, with a migrainous pattern observed most frequently in CVF-patients. Logistic regression combining Bern score, WMH burden, and WMH pattern demonstrated a better fit for predicting CVF than using Bern score or WMH features alone. Fourteen clinical symptoms showed the greatest differences between CVF+ and CVF-groups. Logistic regression demonstrated a positive association between CVF detection and a pressure/throbbing headache quality, and negative associations for neck pain, facial pain, phonophobia, and anhedonia/depression. These findings suggest a negative association between CVF detection, increased burden of WMH, and a migrainous WMH pattern. Symptom analysis describes distinct clinical phenotypes, challenging orthostatic headache as a defining characteristic. These results support a comprehensive assessment of imaging and clinical presentations in the workup of suspected SIH. SIH = spontaneous intracranial hypotension; CVF = CSF venous fistula; WMH = white matter hyperintensities; dCTM = dynamic CT myelography; dDSM = dynamic digital subtraction myelography; PPV = positive predictive value; NPV = negative predictive value Received month day, year; accepted after revision month day, year.

Computed tomography for the detection of myocardial hypoperfusion in acute myocardial infarction and the associated CT-to-catheter time

Emergency computed tomography (CT) often does not allow for comprehensive coronary artery assessment. However, CT may reveal pathological myocardial hypoperfusion suggestive of acute myocardial infarction (AMI), especially in patients presenting with a different diagnostic hypothesis. CT hypoperfusion is known to be associated with myocardial infarction, however the diagnostic value of CT hypoperfusion for the detection of AMI is still not well evaluated. This was a single-centre retrospective study including patients who underwent invasive coronary angiography (ICA) due to suspected AMI based on incidental perfusion defects upon emergency CT imaging between 2018 and 2023. A total of 22 patients (mean age 66.3 ± 10.8 years, 11 female) were included in this analysis. The diagnosis of AMI was established in all cases leading to ICA. Culprit coronary artery lesions with an indication of percutaneous coronary intervention were detected in all patients who underwent ICA. Spearmann correlation for hypoperfused segments on CT imaging and the corresponding vascular territory upon ICA was significantly substantial (ρ = 0.73, p = < 0.001). The higher the number of affected myocardial segments, the faster ICA was initiated. Mean time between the suspicion of AMI on CT imaging and ICA was 196 (29–4044) minutes. Myocardial hypoperfusion on emergency CT imaging should be considered as AMI until proven otherwise, independent of the clinical scenario leading to performance of CT imaging and whether imaging was performed for the exclusion of non-cardiac pathologies. Early initiation of further diagnostic workup may potentially avoid delays to invasive treatment and reduce the CT-to-catheter-time. Our study explicitly underlines that myocardial hypoperfusion upon contrast enhanced CT imaging needs to be considered as sign of acute myocardial infarction and indicates targeted clinical workup to rule out this diagnosis and to shorten the timeframe from imaging diagnosis to interventional treatment.

Perfect indications and how to avoid complications in lateral unicompartmental knee arthroplasty

Lateral unicompartmental knee arthroplasty (LUKA) is a favorable alternative to distal femoral osteotomy and total knee arthroplasty in patients with isolated lateral compartment knee osteoarthritis; however, it only accounts for less than 1 ​% of the total number of knee replacements documented in national joint registries.The anatomy and biomechanics of the lateral knee compartment differ from the medial side, with a greater intrinsic laxity of the lateral collateral ligament complex compared with medial structures. Indications and surgical techniques must be tailored to each unicompartmental replacement to optimize outcomes and mitigate complications. This article will discuss the clinical indications, preoperative evaluation and workup, surgical technique, and outcomes for LUKA.

δβ-Thalassemia and α-Triplication: Is Genetic Retesting Worthwhile in Case of Non-Coherent Phenotype?

Thalassemia is a heterogenous group of hemoglobinopathies; intermediate thalassemia's phenotype can be very variegated due to different genetic matching. Before NGS-era, diagnosis often mismatched with phenotypes, hiding some genetic findings that nowadays could completely explain clinical presentation. In this report, we emphasize the importance of reevaluating genetic testing to achieve a correct diagnosis in case of phenotype mismatch thalassemia. Starting from a suspect of δ/β thalassemia heterozygosity, reevaluating revealed heterozygosity for α-gene triplication combined to δ and β heterozygosity, a new finding that completely suited patient's clinical manifestation. This case provided the opportunity to underline that an extended study on total globin genes is essential for correct diagnosis of thalassemia, especially when clinical onset phenotypes are more divisive and questionable at a first clinical work-up.

B-121 Optimizing Test Ordering: Leveraging Heuristics in Naming Conventions - A PSA Case Study

Abstract Background A common screening test for prostate cancer is the Prostate-Specific Antigen (PSA) test, which may also be referred to as total PSA or total PSA plus free PSA, among other variations. Looking at the test menus of two major reference laboratories, it's apparent that PSA can be ordered under thirteen different test names. From an end-user perspective, the question arises: which of these thirteen tests should be ordered, and why are there so many options? This plethora of choices can lead to confusion and uncertainty for clinicians and patients alike. According to various guidelines, ordering Free PSA is only warranted when PSA values exceed 4 ng/ml. In such cases, the ratio of free PSA to total PSA can aid in further clinical decision-making and patient workup. At Zuckerberg San Francisco General Hospital (ZSFGH), we offer two tests for PSA. The first is named “Prostate Specific Antigen” is total PSA done in house, while the second is labeled “Prostate Spec. Ag. Total and Free.” which is sent out to a reference lab. Upon reviewing our send-out orders, we observed a significant increase (376%) from 2022 to 2023 in the use of the send out order. Methods The ordering data for our providers was collected from February 2022 to January 2024 for both in-house and send-out orders. The data was analyzed using descriptive statistics in Microsoft Excel. Results In our population, we observed an abnormal concentration of send-outs originating from a select group of physicians. Additional we also identified a group of providers who only selected the send out test order. Analysis of in-house assay results for PSA revealed that only 15% (1292 out of 8136) exceeded the cutoff of 4 ng/ml, necessitating further testing to inform clinical decision-making. Yet our send out volume of 4157 test is in discordance with how many PSA would need further evaluation. Based on a cost analysis reducing the send out volume by 80% could result in $53,210 savings. Therefore, to reduce the send out amount and to keep the naming convention similar we decided to implement a new test name that would reflex the PSA to Free PSA if the PSA is above 4 ng/ml. We decided on the name “Prostate Specific Antigen total with reflex to Free Prostate Specific Antigen”. Conclusions Our investigation into the variability in PSA test ordering revealed a significant disparity in the number of send-out orders, particularly originating from a select group of physicians. However, the disproportionately high volume of send-out tests suggested an inefficiency in the current testing approach. To address this issue and align with clinical guidelines, we decided to process a request to our medical executive committee for approval for this reflex test in order to meet reimbursement compliance with the Office of the Inspector General. This change aims to streamline the process, reduce unnecessary send-out tests, and ultimately improve the efficiency and accuracy of prostate cancer screening at our institution.

Newborn screening for SCID: the very first prospective pilot study from Türkiye.

The measurement of T-cell receptor excision circle (TREC) is used for newborn screening (NBS) in dried blood spot (DBS) samples from Guthrie card for severe combined immunodeficiency (SCID). Here, we report the results of first newborn screening pilot program for SCID conducted in Türkiye. The study was carried out together with Ankara University School of Medicine and The Ministry of Health, Public Health General Directorate, Pediatric and Adolescent Health Department. TREC measurements were performed in randomly selected Guthrie card samples obtained from 20253 babies born between October 2018 and October 2020. The TREC analyses were performed together with beta Actin (β-Actin) via RT-PCR (Real Time Polymerase Chain Reaction). TRECs found to be normal (≥15 copies/µl) in 98,6% of the newborns (n: 19975) but low (<15 copies/µl) in 1.4% (n:278) at the initial analyses. TRECs were retested in 278 suspected infants and found to be normal in 160 (0.8%) while low in 118 (0.58%). New DBS were obtained from the babies with low TRECs (new sample test). TRECs were normal in 108 (0.53%) of the new sample tests and low in 10 (0.049%). Two among 10 babies who had abnormal (undetectable) TRECs were diagnosed as SCID; ADA (P1) and RAG1 (P2) defects were confirmed respectively. They both received curative treatments [gene therapy (P1) and HSCT (P2)]. The remaining 6 of 8 newborns with abnormal TRECs were found normal after clinical and laboratory immune work-up, while medical records of other two revealed early postnatal death due to extreme prematurity. In the light of this study the incidence of SCID was detected at least 1/10000 live births in Türkiye. This study shows the feasibility and usefulness of initiating SCID screening in Türkiye.

Blue rubber bleb nevus syndrome: A European multicenter cohort study

Background and aimBlue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital vascular entity, mainly characterized by cutaneous and gastrointestinal venous malformations. BRBNS remains relatively unexplored and only limited descriptive data is available. The aim of this study was to evaluate the clinical features, diagnostic work-up and therapeutic management in current practice. MethodsA multicenter, European, cohort study was performed to investigate the BRBNS population. Patient demographics, clinical presentation and management data were collected. ResultsIn this multicenter cohort study including 44 patients, BRBNS is diagnosed at a median age of 12 years, mainly based on clinical presentation (65.9 %). The majority of patients present cutaneous (68.2 %) and digestive (79.5 %) lesions, mainly in the colon and small bowel. d-dimer and fibrinogen levels are checked in <50 % of patients at diagnosis. Tie2/TEK mutation testing is rarely performed. Gastrointestinal bleeding is the most common complication (54.3 %), requiring endoscopic treatment (36.4 %) by various techniques. ConclusionsThis is the largest cohort study on BRBNS. Diagnosis is mainly based on clinical presentation. d-dimer, fibrinogen and Tie2/TEK mutation testing should be performed in case of suspected BRBNS as it could help confirm the diagnosis.

MTX Osteopathy Versus Osteoporosis Including Response to Treatment Data—A Retrospective Single Center Study Including 172 Patients

MTX is an effective and widely used immunomodulatory drug for rheumatoid diseases. MTX osteopathy is a very rare and specific side effect, characterized by stress fractures at multiple locations in the lower extremity, hampering the patient’s mobility by pain and loss of function. In clinical practice, osteoporosis and MTX osteopathy are repeatedly confused and a comparative workup is needed to clarity it’s specifics. Furthermore, specific treatment options for MTX osteopathy need to be established. We compared patients suffering from MTX osteopathy to patients with osteoporosis (OPO). Patients underwent an extensive clinical workup including blood sampling, bone mineral density measurements, high-resolution peripheral quantitative computed tomography and muscular performance testing. Furthermore, treatment regimes in MTX osteopathy were compared with respect to regain of mobility and pain reduction. 83 patients with MTX osteopathy and 89 with OPO were included. Patients with MTX osteopathy did exhibit fractures predominantly at the lower extremity and pain scores were significantly higher (MTX: 6.75 ± 1.86 vs. OPO: 3.62 ± 2.95, p < 0.0001). MTX-caused mobility restriction was successfully reduced by treatment only if MTX was discontinued (pre-treatment: 2.16 ± 1.19 vs. post-treatment: 1.04 ± 0.87, p < 0.0001). Most mobility gain was achieved by involving anabolic treatment (anabolic: 2.1 ± 1.02 vs. antiresorptive: 1.09 ± 0.94, p < 0.05). In summary, MTX osteopathy is characterized by distinct lower extremity stress fractures leading to severe pain and immobility. Discontinuation of MTX is essential to enable treatment success and involving anabolic treatment seems to be more effectively in mobility regain as antiresorptive treatment alone.

Vasovagal syncope with asystole.

Although vasovagal episodes are a common cause of syncope, vasovagal syncope can be cardioinhibitory in nature, resulting in a severe heart block or asystole. This case report focuses on a young man with a history of seizures and frequent syncopal episodes who required an extensive clinical workup and treatment for cardioinhibitory syncope.

Ocular Sarcoidosis as Initial Presentation of the Disease: Clinical Characteristics and Risk Factors Associated with Disease Recurrence

ABSTRACT Purpose To review the clinical presentation and diagnostic workup of patients presenting with ocular sarcoidosis as initial manifestation of the disease and identify risk factors for disease recurrence. Methods All cases of sarcoidosis followed in our departments of Ophthalmology and Internal Medicine were retrospectively reviewed. Among 177 patients, 50 had ocular sarcoidosis as initial presentation of the disease. Clinical, biological, radiological, and treatment data were collected. Logistic regression analysis was conducted to identify risk factors for recurrence. Results Mean age of patients was 51 years, with an equal M/F ratio. Bilateral ocular involvement was present in 86% of cases, with granulomatous panuveitis being the most common manifestation (48%). Two-thirds of patients had extraocular symptoms related to the disease, mostly fatigue. The most frequently involved extraocular site was the supradiaphragmatic lymph nodes, identified in 84% of cases. CRP was normal in 68% of patients, while ACE and lysozyme were elevated in 19% and 64% of cases, respectively. Histopathological confirmation was obtained in 68% of patients. Female sex (odds ratio [OR] 6.66, 95% confidence interval [CI] 1.50–40.40, p = 0.021) and granulomatous panuveitis (OR 7.23, 95% CI 1.70–40.99, p = 0.013) were identified as significant risk factors for disease recurrence. Conclusion Ocular sarcoidosis is a common initial presentation of systemic sarcoidosis. Diagnosis should be suspected in the presence of bilateral granulomatous panuveitis. Chest CT scan or 18F-FDG PET/CT is mandatory for systemic workup and biopsy is necessary for definite diagnosis. Female sex and a panuveitis presentation are significantly associated with disease recurrence.