Syndrome Presenting Research Articles

Sports-related peripheral nerve injuries of the upper limb.

Peripheral nerve injuries in athletes affect the upper limb more commonly than the lower limb. Common mechanisms include compression, traction, laceration, and ischemia. Specific sports can have unique mechanisms of injury and are more likely to be associated with certain neuropathies. Familiarity with these sport-specific variables and recognition of the common presentations of upper limb neuropathic syndromes are important in assessing an athlete with a suspected peripheral nerve injury. Evaluation may require imaging modalities and/or electrodiagnostic testing to confirm a nerve injury. In some cases, diagnostic injections may be needed to differentiate neuropathic versus musculoskeletal etiology. Early and accurate diagnosis is essential for treatment/management and increases the likelihood of a safe return-to-sport and avoidance of long-term functional consequences. Most nerve injuries can be treated conservatively, however, severe or persistent cases may require surgical intervention. This monograph reviews key diagnostic, management, and preventative strategies for sports-related peripheral nerve injuries involving the upper limb.

Ohvira syndrome with rare presentations – A case report

Herlyn Werner Wunderlich syndrome is a very rare congenital anomaly of the urogenital tract involving Mullerian ducts and mesonephric ducts. It is synonymous with OHIVRA syndrome which is Obstructed Hemivagina with Ipsilateral Renal Agenesis syndrome. Very few case reports have been reported regarding the syndrome. Herein, we report a case of 20 year old unmarried female with unusual presentation of OHVIRA syndrome with complaints of spotting per vagina and with vaginal cyst on examination. Diagnosis was confirmed by MRI which showed features of OHVIRA with pyometra caused by the obstructed hemivagina. She was managed surgically by diagnostic laparoscopy and per vaginal resection of the vaginal septum and drainage of around 50cc of pyometra followed by visualisation of two separate cervical canals post procedure. As a rare entity, a high degree of clinical suspicion is necessary to diagnose and intervene at the right time to ensure optimum results and prevent complications and preserve fertility.

Autoimmune thyroid disease and rheumatoid arthritis: where the twain meet.

Autoimmune thyroid disease (AITD) is the most prevalent autoimmune disease. It shares multiple genetic, clinical, and serologic characteristics with rheumatoid arthritis (RA). Although frequently described as a classic form of single-organ autoimmunity, the AITD disease burden in a subset of patients extends well beyond the thyroid gland. This review explores the complex interaction between the two diseases and the clinical consequences when they overlap. Beyond the well-known effects of AITD on thyroid function in RA, there is mounting evidence of the association of both conditions impacting the presentation and outcomes of diabetes, metabolic syndrome, and cardiovascular disease. An increasing number of studies suggest that there are negative effects of AITD on RA disease activity both in the presence and in the absence of thyroid dysfunction. Recent evidence suggests that AITD may not only worsen the cumulative damage of RA through higher disease activity but may also worsen secondary osteoarthritis changes. Less well-known is the significant association between AITD and chronic widespread pain syndromes including fibromyalgia. Importantly, the presence of fibromyalgia, which is increased in RA patients, appears to be further increased when it overlaps with AITD. Lastly, we probe the possible influence of AITD interacting with RA on fertility and clinical depression. Key Points • Autoimmune thyroid disease is the most common autoimmune disease and is frequently associated with rheumatoid arthritis. • Autoimmune thyroid disease can present with osteoarthritis, inflammatory arthritis, and chronic widespread pain syndromes. • The co-occurrence of autoimmune thyroid disease and rheumatoid arthritis may worsen disease activity and exacerbate other disease manifestations including cardiovascular disease, fertility, and depression. • The overlap of rheumatoid arthritis with autoimmune thyroid disease needs further research and should be sought in general clinical practice.

The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice

Dominant optic atrophy (DOA) is one of the most prevalent forms of hereditary optic neuropathies and is mainly caused by heterozygous variants in OPA1, encoding a mitochondrial dynamin-related large GTPase. The clinical spectrum of DOA has been extended to a wide variety of syndromic presentations, called DOAplus, including deafness as the main secondary symptom associated to vision impairment. To date, the pathophysiological mechanisms underlying the deafness in DOA remain unknown. To gain insights into the process leading to hearing impairment, we have analyzed the Opa1delTTAG mouse model that recapitulates the DOAplus syndrome through complementary approaches combining morpho-physiology, biochemistry, and cellular and molecular biology. We found that Opa1delTTAG mutation leads an adult-onset progressive auditory neuropathy in mice, as attested by the auditory brainstem response threshold shift over time. However, the mutant mice harbored larger otoacoustic emissions in comparison to wild-type littermates, whereas the endocochlear potential, which is a proxy for the functional state of the stria vascularis, was comparable between both genotypes. Ultrastructural examination of the mutant mice revealed a selective loss of sensory inner hair cells, together with a progressive degeneration of the axons and myelin sheaths of the afferent terminals of the spiral ganglion neurons, supporting an auditory neuropathy spectrum disorder (ANSD). Molecular assessment of cochlea demonstrated a reduction of Opa1 mRNA level by greater than 40%, supporting haploinsufficiency as the disease mechanism. In addition, we evidenced an early increase in Sirtuin 3 level and in Beclin1 activity, and subsequently an age-related mtDNA depletion, increased oxidative stress, mitophagy as well as an impaired autophagic flux. Together, these results support a novel role for OPA1 in the maintenance of inner hair cells and auditory neural structures, addressing new challenges for the exploration and treatment of OPA1-linked ANSD in patients.

Unexplained bleeding as a presentation of Munchausen syndrome: A case report

Unexplained bleeding as a presentation of Munchausen syndrome: A case report

Delayed presentation of food protein-induced enterocolitis syndrome (FPIES) to okra in a toddler

BackgroundFood protein-induced enterocolitis syndrome (FPIES) is a non-immunoglobulin E (IgE) -mediated food allergy predominantly observed in infants and characterized by the delayed onset of vomiting following ingestion of a trigger food. An increase in research and clinical consideration of FPIES has led to the discovery of unique deviations from the standard FPIES triggers and presentations.Case presentationA 34-month-old female patient with a history of consuming okra daily presented to medical attention after developing classic FPIES symptoms to okra beginning at 14-months of age.ConclusionsRecently, awareness about the varied nature of FPIES clinical presentation has come to light. This case is the first to describe FPIES to the fruit okra that developed over a 12-month time span after previously tolerating the food. This case serves to emphasize the importance of understanding the range of FPIES symptoms to improve recognition and expedite best practice recommendations.

An unusual finding of pneumothorax in Kartagener’s syndrome: A case report and review of the literature

Kartagener's syndrome is a subdivision of primary ciliary dyskinesia (PCD)/immotile-cilia syndrome that includes situs inversus, bronchiectasis, sinusitis, and infertility. Although the symptoms appear early, it remains undiagnosed for years. We are reporting an unusual presentation of Kartagener's syndrome as pneumothorax, which has seldom been reported. Kartagener's syndrome presenting as pneumothorax is very unlikely and is one of the rare complications associated with Kartagener's syndrome. Early diagnosis is crucial for preliminary counseling of patients about PCD-associated infertility and to prevent respiratory complications.

339 - A pain in the neck: a dramatic presentation of lemierre syndrome

339 - A pain in the neck: a dramatic presentation of lemierre syndrome

On the Differential: Presentation and Prevalence of Adult Food Protein-Induced Enterocolitis Syndrome

On the Differential: Presentation and Prevalence of Adult Food Protein-Induced Enterocolitis Syndrome

Synchronous advanced prostate and colonic adenocarcinoma as the first presentation of Lynch syndrome: a case report

Synchronous advanced prostate and colonic adenocarcinoma as the first presentation of Lynch syndrome: a case report

Muir-Torre syndrome presenting as sebaceous adenoma and papillary thyroid carcinoma

Muir-Torre syndrome presenting as sebaceous adenoma and papillary thyroid carcinoma

Abstract TP258: Social Network Features Involved in Stroke Decision Making During Acute Stroke

Introduction: 80% of strokes occur in the company of others and 70% take place at home. However, research on prehospital delay has overlooked the social nature of stroke detection and triage. In the Time is Brain study, we aim to understand how a patient’s social network affects the decision to seek medical care during stroke symptom onset. Methods: We conducted in-depth interview in 78 patients (ages 30 to 90 years) in the longitudinal, multicenter Time is Brain study. During the interview, we mapped and examined relationships and interactions between patients and individuals involved in the decision-making process during the stroke. We enrolled during their initial stroke hospitalization at Mass General Brigham or Yale New Haven Hospital. Eligibility criteria include having an acute stroke syndrome presentation that may include diagnoses of acute ischemic stroke, intracerebral hemorrhage (ICH), or transient ischemic attack (TIA). Trauma-related syndromes, such as subdural hemorrhage, were excluded. Results: 82.5% (n=66) of patients were accompanied by at least one other person during symptom onset. 60% (n=48) contacted at least one other person. 82.5% (n=66) of strokes occurred in a home-setting and 17.5% (n=14) occurred at work or another public space. 36.25% (n=29) of patients identified their spouse as the first person made aware of symptoms. Men were more likely than women to be accompanied by a spouse (X 2 = 6.8211, p-value = 0.03302). Conclusions: Building on prior studies that have highlighted the important role of the social environment in stroke detection and triage, this is a high-resolution study of the social agents and behaviors driving stroke decision-making. These findings highlight the active and often lengthy communication, and unspoken observations that shape layperson decisions during stroke crises. These data are important to identify mechanisms of prehospital delay and build social network-based interventions to improve time-to-treatment.

Case report: Antiphospholipid syndrome presenting as primary adrenal insufficiency

Case report: Antiphospholipid syndrome presenting as primary adrenal insufficiency

Ethical Attitudes and Handling in Prenatal Conflict Situations - A Survey among Obstetricians and Prenatal Diagnosticians in Germany

Various studies have shown that belonging to a professional group has an influence on ethical attitudes. The aim of this study was to assess and compare the attitudes and approaches of obstetrical specialists and prenatal diagnosticians in prenatal conflict situations. Explorative cross-sectional online survey among tertiary perinatal care centers and prenatal diagnosticians with DEGUM Level II/III in Germany. The questionnaire included questions on ethical attitudes in the perinatal context and a case presentation of a fetal hypoplastic left heart syndrome. The response rate was 57.1% (310/543). 55.5% of the respondents practiced both obstetrics and prenatal diagnostics, 24.5% exclusively prenatal diagnostics, and 14.2% purely obstetrics. 27% agreed with the statement "An uncertain prognosis justifies pregnancy termination". For complex fetal malformations joint interdisciplinary counseling was advocated by 98.3%. Addressing the option of postnatal palliative treatment in a case of a hypoplastic left heart syndrome was accepted by 84.3% across all professional groups, while mentioning fetocide was more frequently cited as an option by prenatal diagnosticians than by obstetricians (57.7% vs. 34.1%). Interdisciplinary prenatal parental counseling in complex fetal malformations is uniformly advocated by prenatal diagnosticians and obstetricians in Germany. However, different ethical attitudes appear among specialists groups with regard to the option of termination of pregnancy.

Left-sided Poland Syndrome Presenting as Chronic Respiratory Symptoms without Hand Deformity: A Rare Case Report

Left-sided Poland Syndrome Presenting as Chronic Respiratory Symptoms without Hand Deformity: A Rare Case Report

P-07 Unraveling the Mystery-Conn's Syndrome

Abstract Background Conn's syndrome, also known as primary aldosteronism, is a rare disease that can manifest at a young age. Resolving the underlying cause of hypertension is crucial, as seen in this case report. Clinical Case A 17-year-old female patient was admitted with a history of recurrent fever over the past 6 months, bifrontal headaches, palpitations, and myalgia for the past 4 months. Examination revealed resistant hypertension, and laboratory results showed persistent hypokalemia and an elevated aldosterone/renin ratio. CT imaging revealed a left adrenal adenoma. A laparoscopic intervention successfully addressed the uncontrolled hypertension. Histological examination confirmed a diagnosis of a benign adrenal cortical adenoma. Conclusion Post-surgery, the patient's overall condition significantly improved, and blood pressure was effectively controlled. This case report underscores the rare presentation of Conn's syndrome in young individuals and emphasizes the importance of investigating specific underlying causes of hypertension to prevent associated morbidity and mortality.Figure 1.Conns syndrome, CT scan, histology section gross.CECT scan of abdomen and pelvis - left adrenal adenoma gross section - cut section adrenal gland -showing 2 cysts one on medial side 1*1cm and inferiolateral side 1*0.5cm histology of the removed adrenal confirmed diagnosis of benign adrenal cortical adenoma Table 1.Conns syndrome investigations Table 2.Conns syndrome investigations

Late presentation of multisystem inflammatory syndrome in children associated with SARS-CoV-2 infection, Kawasaki disease, pancarditis, and great vessels arteritis.

Late presentation of multisystem inflammatory syndrome in children associated with SARS-CoV-2 infection, Kawasaki disease, pancarditis, and great vessels arteritis.

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report

BackgroundVacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by mutations in the ubiquitin-activating enzyme1 (UBA1) gene and characterised by an overlap between autoinflammatory and haematologic disorders.Case presentationWe reported a case of a 67-year-Japanese man receiving peritoneal dialysis (PD) who had recurrent aseptic peritonitis caused by the VEXAS syndrome. He presented with unexplained fevers, headache, abdominal pain, conjunctival hyperaemia, ocular pain, auricular pain, arthralgia, and inflammatory skin lesions. Laboratory investigations showed high serum C-reactive protein concentration and increased cell count in PD effluent. He was treated with antibiotics for PD-related peritonitis, but this was unsuccessful. Fluorine-18-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography images demonstrated intense FDG uptake in his left superficial temporal artery, nasal septum, and bilateral auricles. The working diagnosis was giant cell arteritis, and he was treated with oral prednisolone (PSL) 15 mg daily with good response. However, he was unable to taper the dose to less than 10 mg daily because his symptoms flared up. Since Tocilizumab was initiated, he could taper PSL dose to 2 mg daily. Sanger sequencing of his peripheral blood sample showed a mutation of the UBA1 gene (c.122 T > C; p.Met41Thr). We made a final diagnosis of VEXAS syndrome. He suffered from flare of VEXAS syndrome at PSL of 1 mg daily with his cloudy PD effluent. PSL dose of 11 mg daily relieved the symptom within a few days.ConclusionsIt is crucial to recognise aseptic peritonitis as one of the symptoms of VEXAS syndrome and pay attention to the systemic findings in the patients.

Frontotemporal disorders: the expansive panoply of syndromes and spectrum of etiologies.

Frontotemporal lobe disorders (FTD) are amongst the most common brain neurodegenerative disorders. Their relatively covert, frequently subtle presentations and diverse etiologies, pose major challenges in diagnosis and treatments. Recent studies have yielded insights that the etiology in the majority are due to environmental and sporadic causes, rather than genetic in origin. To retrospectively examine the cognitive and behavioral impairments in the veteran population to garner the range of differing syndrome presentations and etiological subcategories with a specific focus on frontotemporal lobe disorders. The design is a retrospective, observational registry, case series with the collection of epidemiological, clinical, cognitive, laboratory and radiological data on people with cognitive and behavioral disorders. Inclusion criteria for entry were veterans evaluated exclusively at Orlando VA Healthcare System, neurology section, receiving a diagnosis of FTD by standard criteria, during the observation period dated from July 2016 to March 2021. Frontotemporal disorders (FTD) were delineated into five clinical 5 subtypes. Demographic, cardiovascular risk factors, cognitive, behavioral neurological, neuroimaging data and presumed etiological categories, were collected for those with a diagnosis of frontotemporal disorder. Of the 200 patients with FTD, further cognitive, behavioral neurological evaluation with standardized, metric testing was possible in 105 patients. Analysis of the etiological groups revealed significantly different younger age of the traumatic brain injury (TBI) and Gulf War Illness (GWI) veterans who also had higher Montreal Cognitive Assessment (MOCA) scores. The TBI group also had significantly more abnormalities of hypometabolism, noted on the PET brain scans. Behavioral neurological testing was notable for the findings that once a frontotemporal disorder had been diagnosed, the four different etiological groups consistently had abnormal FRSBE scores for the 3 principal frontal presentations of (i) abulia/apathy, (ii) disinhibition, and (iii) executive dysfunction as well as abnormal Frontal Behavioral Inventory (FBI) scores with no significant difference amongst the etiological groups. The most common sub-syndromes associated with frontotemporal syndromes were the Geschwind-Gastaut syndrome (GGS), Klüver-Bucy syndrome (KBS), involuntary emotional expression disorder (IEED), cerebellar cognitive affective syndrome (CCA), traumatic encephalopathy syndrome (TES) and prosopagnosia. Comparisons with the three principal frontal lobe syndrome clusters (abulia, disinhibition, executive dysfunction) revealed a significant association with abnormal disinhibition FRSBE T-scores with the GGS. The regression analysis supported the potential contribution of disinhibition behavior that related to this complex, relatively common behavioral syndrome in this series. The less common subsyndromes in particular, were notable, as they constituted the initial overriding, presenting symptoms and syndromes characterized into 16 separate conditions. By deconstructing FTD into the multiple sub-syndromes and differing etiologies, this study may provide foundational insights, enabling a more targeted precision medicine approach for future studies, both in treating the sub-syndromes as well as the underlying etiological process.

A Case of Cartagenet's Syndrome Presenting as a Solid Pulmonary Lesion

Background: Cartagena syndrome is a very rare disease with typical clinical manifestations of chronic sinusitis, bronchiectasis, and visceral inversion. Although it is not difficult to diagnose, many physicians do not pay enough attention to it, and it is often misdiagnosed or underdiagnosed. Here, we describe a patient with Cartagena syndrome who presented with solid pulmonary lesions on admission to the hospital. Case Details: A 15-year-old young woman with clinical symptoms such as cough, expectoration, nasal congestion, and runny nose came to the hospital this time due to the aggravation of cough and expectoration symptoms and chest pain. At admission, chest CT showed consolidation of the middle lobe of the left lung and inversion of the whole internal organs. After anti infection and expectorant treatment, the symptoms improved. Reexamination of chest CT showed that inflammation was obviously absorbed, the middle lobe bronchiectasis was obvious, and improved sinus CT showed extensive sinusitis, The final clinical diagnosis was Katane syndrome. Conclusion: It is not difficult to diagnose Cartagene syndrome with typical triad, but it is easy to miss or misdiagnose those with atypical imaging manifestations. For patients with lung consolidation and visceral inversion, we should think of the possibility of Cartagene syndrome, and timely review chest CT and improve relevant examinations to avoid missed diagnosis and misdiagnosis.