Syndrome Presenting Research Articles

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant. Detailed radiographic, pathological, clinical, and molecular data from 12 prenatal cases were collected through an international collaborative study. Adding the five fetuses previously published, we were able to study a cohort of 17 cases. Main ultrasound-accessible manifestations of MYRF-CUGS include congenital heart defects (13/17, 76%), congenital diaphragmatic hernia (10/17, 59%) and disorders of sexual differentiation in 46, XY fetuses (7/14; 50%). Postnatal examination and/or autopsy data highlighted additional birth defects and neurological findings with a large spectrum of severity. Molecular results revealed ten previously unpublished variants, one missense and nine predicted truncating variants (three frameshift, three nonsense and three splice site variants). We report the first prenatal cohort of MYRF-CUGS, allowing us to further characterize the variable expressivity of this rare disorder in fetuses. Severe congenital anomalies with a poor prognosis are more frequent than previously described in postnatal cases. Our data suggest that MYRF-CUGS is characterized by a recurrent recognizable malformative association, accessible to prenatal diagnosis, with a significant intrafamilial phenotypic variability making genetic counseling challenging.

A Unique Presentation of Atypical Hemolytic Uremic Syndrome With Unilateral Blindness and Ischemic Stroke: A Case Report

A Unique Presentation of Atypical Hemolytic Uremic Syndrome With Unilateral Blindness and Ischemic Stroke: A Case Report

Abstract 4145822: The Enigma of Chest Pain: Rare Presentation of ALCAPA Syndrome in a Young Adult

Introduction: Anomalous Left Coronary Artery Arising from the Pulmonary Artery (ALCAPA), also known as Bland-White-Garland syndrome, is a rare congenital anomaly(incidence:1 in 300,000 live births) typically presenting during infancy. Adult presentations are even rarer due to a high mortality rate of nearly 90% in the first year of life without surgical intervention. This report examines an adult patient with exercise-induced chest pain who received a delayed diagnosis of ALCAPA via multimodal imaging. Case Summary: A 21-year-old male presented to the emergency department(ED) with severe retrosternal chest pain radiating to both shoulders and arms, which began during exercise 30 minutes prior. He had a history of similar, milder episodes during exercise, previously treated as musculoskeletal pain and gastroesophageal reflux disease in the ED. His medical, social, and family histories were unremarkable. Physical examination revealed a soft, continuous murmur along the left sternal border. During this visit, An EKG done showed sinus tachycardia at 110 bpm and deep T-wave inversions in the anterolateral leads, a dynamic ST-T changes from his baseline.Serial Cardiac biomarkers and a lipid profile were within normal ranges. Initially managed for acute coronary syndrome-unstable angina with antithrombotic therapy, beta-blockers, and nitrates, he underwent urgent coronary angiography. This revealed a dilated right coronary artery (RCA) with retrograde flow to the left coronary artery (LCA) into the main pulmonary artery (PA) via collaterals, with no evidence of atherosclerosis (Figure 1).Echocardiography (Figure 2) and coronary CT angiography (Figure 3) confirmed the diagnosis of ALCAPA. The patient underwent successful surgical repair with aortic reimplantation of the LCA and was discharged in good health. Discussion: In adult ALCAPA patients, good collateral circulation may develop; however, myocardial ischemia can occur due to the "coronary steal phenomenon" and poor collateral flow regulation, leading to angina, arrhythmias, and sudden cardiac death. ALCAPA should be considered a differential diagnosis in adults presenting with exercise intolerance, as most sudden cardiac death cases occur by the fourth decade. A high index of clinical suspicion and a multimodality imaging approach is essential for the early diagnosis of this rare coronary anomaly, underscoring the critical role of early surgical intervention in preventing catastrophic, life-threatening events.

The First Case of Bernard-Soulier Syndrome Presenting with Isolated Hemoptysis and Probable Diffuse Alveolar Hemorrhage: A Case Report and Literature Review

Bernard-Soulier syndrome (BSS) is a rare platelet function disorder due to an impaired GPIb-V-IX complex, with an estimated incidence of one per million. Usual presentations include gingival bleeding, epistaxis, easy bruising, and post-traumatic excessive bleeding, among others, but not hemoptysis. The patient was a 46-year-old male who presented with three cups of hemoptysis two days before the presentation. He also had moderate burning chest pain for the past two weeks, which was getting better. He was diagnosed with BSS 45 years ago and had approximately 100 prior presentations for bleeding from various locations, including three prior episodes of hemoptysis. The mainstay of treatment was platelet transfusions, and the patient was carefully observed. Only one case of hemoptysis in a patient with BSS was found, but the patient had hemoptysis due to underlying pulmonary tuberculosis. Therefore, hemoptysis or DAH were never reported in the literature due to BSS. This patient was the first case of massive hemoptysis and possible DAH related to BSS, emphasizing the need for proper attention due to its possible detrimental outcomes.

Neurodevelopment delay as the initial presentation of thyroid hormone resistance syndrome

Thyroid hormone (TH) resistance syndrome is a genetic disorder usually caused by a defect in TH receptors. Moreover, transport and intracellular metabolism alterations have also been described. This case report presents a child with Allan–Herndon–Dudley syndrome characterized by a mutation on the X-linked monocarboxylate transporter 8 gene, a condition that affects the transport of THs across the cell membrane, leading to hypothyroidism in the central nervous system and hyperthyroidism in peripheral tissues, causing severe neurodevelopmental delay manifesting as generalized hypotonia from birth. The utility of monitoring thyroid functions, genetic testing, and triiodothyroacetic acid in the management is highlighted.

From Dizziness to Dysphagia: A Complex Presentation of Lateral Medullary Syndrome

From Dizziness to Dysphagia: A Complex Presentation of Lateral Medullary Syndrome

Characteristics of Multisystem Inflammatory Syndrome in Children Across COVID-19 Variants in Vojvodina

Background/Objectives: To investigate if the severity and presentation of multisystem inflammatory syndrome in children (MIS-C) vary between different severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants. Methods: This retrospective study included 59 patients aged 0–18 years, diagnosed with COVID-19 and MIS-C, treated and monitored over a one-year period after discharge from hospital. The patients were grouped according to the predominant SARS-CoV-2 variant. The predominant variant of SARS-CoV-2 was assumed by the date of hospitalization. The following patient data were collected: demographic data (age, sex), information on comorbidities, body mass index, clinical data (fever and duration of febrile periods, symptoms of Kawasaki-like phenotypes, and presence of respiratory, cardiovascular, gastrointestinal, neurological and other symptoms), and laboratory and imaging findings. Results: In total, 24 (41%), 19 (32%), and 15 (25%) patients were diagnosed with MIS-C during the Alpha, Delta, and Omicron periods, respectively (63.8% were males; 36.2% were females). Comorbidities were present in 49% of patients. Respiratory symptoms were the most common during the Delta period (73%, p = 0.028). There was no statistically significant difference in the occurrence of other symptoms, laboratory findings, treatment, complications, and long-term outcomes between groups. Conclusions: No significant correlation was found between hospitalization date (used to estimate COVID-19 variant) and presentation/severity of MIS-C.

An Unusual Presentation of Infantile Epileptic Spasm Syndrome in a Child.

An Unusual Presentation of Infantile Epileptic Spasm Syndrome in a Child.

Malperfusion Syndrome in Patients Undergoing Repair for Acute Type A Aortic Dissection: Presentation, Mortality and Utility of the Penn Classification

The current study aims to report the presentation of the malperfusion syndrome in patients with acute Type A aortic dissection admitted to surgery and its impact on mortality. Data were retrieved from the multicenter European Registry of Type A Aortic Dissection (ERTAAD). The Penn classification was utilized to categorize malperfusion syndromes. A machine learning algorithm was applied to assess the multivariate interaction's importance regarding in-hospital mortality. A total of 3,902 consecutive patients underwent repair for Acute Type A Aortic Dissection. Local malperfusion syndrome occurred in 1,584 (40.58%) patients. Multi-organ involvement occurred in 582 patients (36.74%) whereas 1,002 patients (63.26%) had single-organ malperfusion. The prevalence was the highest for cerebral (21.27%) followed by peripheral (13.94%), myocardial (9.7%), renal (9.33%), mesenteric (4.15%), and spinal malperfusion (2.10%). Multi-organ involvement predominantly occurred in organs perfused by the downstream aorta. Malperfusion significantly increased mortality risk (p < 0.001, OR 1.95 ± 0.29). The Boruta machine learning algorithm identified the Penn classification as significantly associated with in-hospital mortality (p< 0.0001, variable importance = 7.91), however, 8 other variables yielded higher prediction importance. According to the Penn classification mortality rates were for Penn A = 12.38%, Penn B = 20.71% Penn C = 28.90%, and Penn BC = 31.84% respectively. Nearly half of the examined cohort presented with signs of malperfusion syndrome predominantly due to local involvement. More than one-third of patients with local malperfusion syndrome had a multivessel involvement. Furthermore, different levels of Penn classification can be used only as a first tool for preliminary stratification of early mortality risk.

A Curious Case of Multimorbidity in a Patient With Goldenhar Syndrome Presenting With Vomiting

A Curious Case of Multimorbidity in a Patient With Goldenhar Syndrome Presenting With Vomiting

Subgroup analysis of diabetes in COVID-positive revascularized patients: implications for clinical management

Abstract Background The management of revascularized patients with COVID-19, particularly in the presence of diabetes mellitus (DM), presents significant challenges. Understanding the clinical outcomes in this subgroup is essential for optimizing patient care during the pandemic. Purpose This study aimed to investigate the clinical outcomes of revascularized COVID-positive patients with and without DM, focusing on revascularization methods, hospitalization rates, mechanical ventilation requirement, mortality, stroke incidence, and presentation of acute coronary syndrome (ACS) subtypes. Methods A retrospective analysis was conducted on the cohort of 620 COVID-positive revascularized patients. Among them, 267 patients had diabetes mellitus (DM), while 353 patients did not. Data on revascularization methods, hospitalization rates, mechanical ventilation requirement, mortality, stroke incidence, and ACS presentation were collected and compared between the two groups. Statistical analysis was performed to assess the significance of differences observed. Results Among the 620 COVID-positive revascularized patients, 267 (43.1%) had diabetes mellitus, while 353 (56.9%) did not. Demographic analysis revealed that 299 (84.7%) of the COVID-positive patients with diabetes mellitus were male, compared to 181 (67.8%) of those without diabetes mellitus. This difference in gender distribution between the two groups was statistically significant (p &amp;lt; 0.001). Additionally, smoking was more prevalent among COVID-positive patients without diabetes mellitus (38.8%) compared to those with diabetes mellitus (22.5%), with a significant difference observed (p &amp;lt; 0.001) (Table 1). Among the revascularized patients, a higher proportion of patients with diabetes mellitus underwent coronary artery bypass grafting (CABG) compared to those without DM (32.6% vs. 24.1%, p = 0.019). Patients with diabetes exhibited significantly higher hospitalization rates (27.0% vs. 15.6%, p = 0.001) and a trend towards increased mechanical ventilation requirement (11.1% vs. 3.6%, p = 0.121). However, mortality rates, stroke incidence, and ACS presentation did not significantly differ between the two groups (Table2). Conclusion This study underscores the heightened vulnerability of revascularized COVID-positive patients with DM, as evidenced by higher hospitalization rates and a trend towards increased mechanical ventilation requirement. These findings emphasize the importance of tailored management strategies for this high-risk subgroup to optimize patient outcomes during the ongoing COVID-19 pandemic.Table 1Table 2

Sjogren’s Syndrome Presenting as Hypokalemic Paralysis Secondary to Distal Renal Tubular Acidosis: A Case Report

Sjogren’s Syndrome Presenting as Hypokalemic Paralysis Secondary to Distal Renal Tubular Acidosis: A Case Report

Carcinoid syndrome presenting as diffuse violaceous cutaneous flushing.

We reported a rare case of carcinoid syndrome presenting as deep red to violaceous erythema and diarrhea. Early diagnosis and treatment by multidisciplinary team is crucial in improving prognosis and outcomes.

Ossification of the medial collateral and lateral collateral ligament of knee in a 19-year-old female

This case report discusses an uncommon presentation of Pellegrini-Stieda syndrome (PSS), characterized by ossification of the medial collateral ligament (MCL) of the knee, extending to the lateral collateral ligament (LCL) in a 19-year-old female patient. Typically, PSS involves post-traumatic calcification of the MCL, but this case uniquely presents ossification in both the MCL and LCL, a phenomenon not widely documented. The patient, a young laborer from a lower socio-economic background, developed knee pain and restricted movement following a fall. Diagnostic imaging revealed the unusual ossifications, leading to a diagnosis of PSS. The patient was treated with steroid injections under fluoroscopic guidance, resulting in significant improvement in knee mobility. This report highlights the importance of recognizing atypical presentations of PSS for accurate diagnosis and treatment, emphasizing the need for further research into the underlying mechanisms and optimal management strategies for such cases.

The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare syndrome presenting in early childhood associated with a high risk of mortality between 50 and 60%. It is characterised by rapid, early onset of obesity between 1.5–7 years, along with central hypoventilation and hypothalamic dysfunction, such as central hypothyroidism, hyperprolactinemia, disorders of sodium and water balance, growth hormone deficiency, adrenocortical insufficiency, or disorders of puberty and features of autonomic dysregulation. Up to half of cases have neural crest tumours, most commonly ganglioneuromas or ganglioneuroblastomas. The incidence of ROHHAD syndrome in any population is unknown. Currently, there is no specific diagnostic or genetic biomarker for ROHHAD, and diagnosis is based on clinical signs and symptoms, which is often challenging, and consequently may be delayed or unrecognised. Early diagnosis is important, as without intervention, ROHHAD is associated with high morbidity and mortality. Aetiology remains unclear; an autoimmune origin has been postulated, with immunosuppressive agents being used with variable benefit. With no cure, multidisciplinary management is largely supportive. Therefore, there are many unanswered questions in ROHHAD syndrome. In this review article, we outline the challenges posed by ROHHAD syndrome, including aetiology, genetics, diagnosis, screening, management, and prognosis. We present research priorities to tackle these issues to improve outcomes.

Oral pharmacological management of Bertolotti syndrome presenting as chronic low back pain – A case report and review of literature

BackgroundBertolotti syndrome (BS) is often a missed cause of chronic lower back pain in young individuals, commonly associated with the presence of anomalous lumbosacral transitional vertebrae. Case presentationA 19-year-old female with no significant medical or family history presented with persistent lower back pain localized to the gluteal region and posterolateral aspect of the left lower back. The pain worsened over time and limited their movements, including walking. A Ferguson radiograph revealed fusion of the left transverse process of the L5 vertebral segment with the left sacral ala. History, examination findings, and radiological workup confirmed the diagnosis of BS. The patient preferred conservative management, receiving oral pharmacological therapy for six weeks, along with education on preventive measures and routine exercises for postural stability. At a six-month follow-up, the patient remained asymptomatic and managed well. ConclusionsConservative oral pharmacological treatment presents a unique and viable alternative to traditional methods for managing BS, which often involve surgery or steroids/anesthetics at the pseudo-articulation site. Given that BS is common yet underdiagnosed in young patients with chronic back pain, this report also underscores the importance of including it in differential diagnoses for chronic lower back pain in this demographic.

Reversal of Basal Ganglia Hypermetabolism Following Surgical Removal of Adrenocorticotropic Hormone-Producing Lung Carcinoid in a Patient of Cushing Syndrome With Unusual Presentation of Acute Psychosis: Proof of Concept.

A 34-year-old woman who presented with severe psychosis and clinical features of Cushing syndrome underwent 18F-FDG PET/CT that revealed hypermetabolic lung lesion along with predominantly increased metabolism of bilateral basal ganglia, a scintigraphic correlate of acute psychosis. The lesion was surgically excised and histopathologically proven to be adrenocorticotropic hormone-producing lung carcinoid. Posttreatment 18F-FDG PET scan showed restoration of normal brain metabolism with complete reversal of psychosis. Even though rare, one should be aware of psychosis as an initial presentation of Cushing syndrome and use of 18F-FDG PET/CT for mapping brain metabolism as shown in this case.

Neuropsychiatric presentations of common dementia syndromes: A concise review for primary care team members.

Dementia is a syndrome characterized by cognitive changes which interfere with daily functioning. Neuropsychiatric symptoms (NPS) are also pervasive and may even occur prior to any noticeable cognitive decline. Still, NPS are less associated with the early stages of the disease course, despite mounting research evidence that NPS present early and often in several dementia syndromes, even in the absence of cognitive decline (i.e., mild behavioral impairment [MBI]). Primary care teams are at the forefront of dementia care, yet they frequently report insufficient training in dementia diagnosis and management. This poses a serious problem considering that timely diagnosis of dementia is critical for optimal outcomes and maximum efficacy of intervention. We provide a concise narrative review of four dementia syndromes (Alzheimer's disease, vascular dementia, dementia with Lewy bodies, and behavioral variant frontotemporal dementia) and their associated neuropsychiatric presentations, as well as at-a-glance clinical guides, to help primary care team members recognize possible prodromal neurodegenerative disease and to prompt further workup. We also review next steps in the management of dementia and symptoms of MBI for primary care team members. As evidenced by the NPS profiles of these dementia syndromes, subacute new onset of psychiatric symptoms in an older adult should prompt consideration of an emerging dementia process and possible further workup of such, even in the absence of cognitive decline.

Uncommon Presentation of Guillain-Barre Syndrome in an Elderly Male: A Case Report

Uncommon Presentation of Guillain-Barre Syndrome in an Elderly Male: A Case Report

Ectatic vertebral artery associated medullary compression treated with microvascular decompression: a case report and review of literature

BackgroundVertebral artery compression syndrome is a rare condition defined as the clinical presentation of dizziness, vertigo, ataxia, dysarthria, dysphagia, progressive or acute paralysis, hemisensory loss, and cervical myelopathy secondary to compression of the medulla and upper spinal cord by the vertebral artery.Case descriptionHere we describe a 57-year-old Mexican–American male with bulbar symptoms, positional vertigo, and diplopia. The patient’s symptoms were managed through microsurgical decompression of the medulla utilizing a far lateral transcondylar approach. The patient reported clinical improvement on follow-up.ConclusionThis case underscores the clinical complexity and heterogeneity of this rare neurovascular pathology and the importance of elucidating the pathophysiological mechanisms underlying the symptomatic presentation of vertebral artery compression syndrome.