Diagnostic Clues Research Articles

Deciphering the enigma of glomus tumors: A case series

Glomus tumors are rare contributing to less than two percent of all soft tissue tumors. Given the rarity of this tumor, there is a possibility of low suspicion and a missed clinical diagnosis. This case series suggests diagnostic and morphological clues for early diagnosis of this tumor.This retrospective study includes nine interesting cases of glomus tumors from January 2015 to January 2024. Data was tabulated and analysed by descriptive statistics using Microsoft Excel 2016. In this series the glomus tumors showed a mean age of (37.67± 17.5 years). Male to female ratio was 1.25:1. Most common sites were digital parts of extremities (5/9, 55.56%). Four of these digital locations were subungual (4/5, 80%). The left side (5/9, 55.56%) was the most common laterality. Duration of symptoms till diagnosis was established showed a median of three months [range was one month to nine years]. All nine cases presented with pain. The mean size of glomus lesions was 2.1±1.5 cm). Multiplicity was observed in (2/9, 22.22%) cases. Eight cases were benign (8/9, 88.89%) while one was malignant (1/9, 11.11%). Two out of these eight benign cases were glomangiomatosis. Excision biopsy was the surgical procedure performed in all of our benign cases while the malignant case was treated with amputation of the finger.Diagnosis of glomus tumors requires a high index of clinical suspicion, especially in extra-digital locations. Awareness is essential for early diagnosis and treatment of this lesion, as it is an extremely painful condition and pain is out of proportion to the size of the lesion. Magnetic Resonance Imaging (MRI) is the first investigation of choice for imaging. An early biopsy can confirm the diagnosis of a glomus tumor in time. Complete surgical excision is curative with a low risk of recurrence.

Hyperkalaemic acidosis: blood pressure is the diagnostic clue.

Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited condition of altered tubular salt handling. It is characterized by the specific constellation of hyperkalaemic hyporeninemic hypertension, hyperchloremic metabolic acidosis and hypercalciuria. Molecular genetic testing confirms the diagnosis in the majority of cases. Thiazides constitute effective treatment. Due to its rarity, the diagnosis is often delayed. We here present two children with PHA2, who were initially treated with fludrocortisone and bicarbonate complicated mainly by exacerbation of their hypertension. Discontinuation of their previous therapy and commencement of thiazide diuretics led to normalisation of their blood pressure and electrolyte and acid-base status.

Curved Melanonychia as a Diagnostic Clue for Subungual Pigmented Squamous Cell Carcinoma In Situ

Curved Melanonychia as a Diagnostic Clue for Subungual Pigmented Squamous Cell Carcinoma In Situ

Leishmaniasis masquerading as pyoderma gangrenosum in a non-endemic area: A case report.

Pyoderma gangrenosum (PG) can be difficult to diagnose, leading to diagnostic delay which affects patient outcomes and increases health care utilization. Among different scenarios of diagnostic delay, atypical infections can mimic PG. Here, we present a case of extensive cutaneous leishmaniasis initially misdiagnosed as the superficial granulomatous variant of PG and describe diagnostic clues to aid in differentiation.

Intradural extramedullary cystic lesions: an interesting cauda equina cysticercosis case report and a literature review

BackgroundIntraspinal cysticercosis, usually with serious neurological deterioration, is rarely diagnosed because its clinical manifestations are nonspecific, and most physicians might not be familiar with its imaging features.Case presentationA 50-year-old woman presented with a 2-month history of increasing pain in her right buttock, rectal tenesmus and uncontrolled micturition. Intradural extramedullary cystic lesion was found, and the characteristic MRI findings of a living cysticercus and a dying cysticercus were presented simultaneously. Finally, the giant intraspinal cysticercus was treated by surgery and antiparasitic treatment.ConclusionsThis case emphasizes that the characteristic imaging findings of different cysticercus cysts as well as the detailed personal history usually provide useful diagnostic clues. Cerebrospinal fluid analysis may aid in confirming the diagnosis.

Imaging of the Inferior Mesenteric Vasculature.

The inferior mesenteric artery (IMA) and inferior mesenteric vein (IMV) supply and drain blood from the distal colon and rectum, respectively. Routinely imaged at cross-sectional imaging of the abdomen and pelvis, these vessels play a vital role in gastrointestinal tract health but may be neglected due to their diminutive caliber relative to other mesenteric vessels and potential lack of inclusion in routine search patterns. The authors describe and illustrate normal and abnormal appearances of the IMA and IMV and findings that are diagnostic of primary vascular abnormalities or can offer diagnostic clues. After the embryologic features, normal anatomy, and anatomic variants of the IMA and IMV are reviewed, various manifestations of IMA and IMV abnormalities, such as aneurysm and pseudoaneurysm, stenosis, occlusion, dissection, hemorrhage, arteriovenous malformations and fistulas, tumoral invasion, vasculitis, and perivascular lymphatic dilatation, are explored with use of case examples. The role of the IMA and IMV as collateral vasculature, including the clinical scenarios of superior mesenteric arterial occlusion, aortic endoleak, and portosystemic venous shunt, are discussed. Finally, diagnostic clues that the inferior mesenteric vessels and adjacent soft tissues can provide, including mesenteric venous gas, compression or displacement from bowel volvulus or internal hernias, lymphadenopathy, and venous flow artifacts, are highlighted. The authors provide a comprehensive reference for radiologists who evaluate the IMA and IMV on cross-sectional images and shine a spotlight on these neglected but important vessels. ©RSNA, 2024 Supplemental material is available for this article.

Chronic actinic dermatitis as a diagnostic clue for Adult T-cell leukemia/lymphoma

Chronic actinic dermatitis as a diagnostic clue for Adult T-cell leukemia/lymphoma

PVC induced QT prolongation for unmasking the LQTS

Abstract Background Long QT Syndrome (LQTS) is a congenital or acquired disorder of cardiac ion channels resulting in disturbances of myocardial repolarization, usually manifested by QT prolongation. Diagnostic criteria include the presence of the corrected QT interval (QTc) of at least 480ms (milliseconds) in repeated 12-lead ECGs or confirmed LQTS gene mutations. Patients with LQTS have an increased likelihood of developing life-threatening ventricular arrhythmias and sudden cardiac death. Hence, establishing an accurate diagnosis is crucial. Purpose About 50% of patients with LQTS presents with normal or borderline QTc interval. Such cases warrant additional work-up to confirm the diagnosis and can often get overlooked. Based on two separate patient cases we hypothesized that significant QTc interval prolongation occurring after premature ventricular contractions (PVCs) may be a valuable diagnostic clue for suspected LQTS or potentially life-threatening arrhythmia in cases with unclear diagnosis. Above mentioned patients displayed normal baseline QTc interval values that prolonged only after PVC. Later, one of them was diagnosed with congenital and another with drug-induced LQTS (see ECG 1). Methods We observed QT interval behavior after PVC in three prespecified groups:(I) Electrocardiographically affected LQTS subjects (QTc ≥480ms) – 10 patients, (II) Control group of unaffected, asymptomatic, otherwise healthy subjects (QTc<460ms) – 72 patients, (III) Index Group of 2 patients with baseline QTc interval of 360-460ms, prolonged only after PVC. 24-hour-ECG records were analyzed. We calculated means of QTc interval before and after PVC in abovementioned three groups and compared them to each other using ANCOVA analysis. Results The QT interval after PVC increased 488+23ms in the first and 390+10ms in the second group. In contrast to the index group, the QT interval was prolonged by 380+160ms after PVC. Post-PVC QTc interval mean difference adjusted to covariate, baseline QTc interval values, were statistically insignificant between I and II groups (P=0.o66), but significant between both I -III(P=0.000055) and II-III groups (P<.0001). Conclusion There are several studies indicating that PVCs affect QT interval, but the phenomena need more investigation. From the perspective of our study, we have also observed that QTc interval indeed increased after PVCs in both ECG-phenotype positive LQTS individuals and healthy subjects, but not in the extent of the index patients. Our study is limited by the small number of concealed LQTS cases. However, it gives us some basis to think, that this finding could be particularly useful to suspect and unmask concealed LQTS in the patients with non-diagnostic baseline ECG.ECG1

Clinical and ultrasound features of uterine perivascular epithelioid cell tumors: case series and literature review.

To describe the clinical and ultrasonographic features of uterine perivascular epithelioid cell tumor (PEComa) using standardized terminology. This was a retrospective analysis of patients with uterine PEComa diagnosed and confirmed by pathology and immunohistochemistry at West China Second University Hospital, Sichuan University, Sichuan, China, between January 2010 and September 2023. The Morphological Uterus Sonographic Assessment (MUSA) consensus and the International Endometrial Tumor Analysis (IETA) consensus were utilized for the standardized description of the sonographic characteristics of uterine PEComa. We summarized the clinical and ultrasound features of uterine PEComa in cases from our center and those found in a review of the literature conducted using PubMed from 1 January 2013 to 30 September 2023 (inclusive). Five patients, aged 33-57 (median, 52) years with a total of six uterine PEComa lesions were included in our cohort. All cases had complete ultrasonographic and pathological images. None of the patients had a history of tuberous sclerosis complex. Two patients had malignant PEComa (one patient had two lesions) and three had benign PEComa, originating from the cervix, myometrium or uterine cavity. Patients presented with symptoms including increased vaginal discharge, vaginal bleeding and pelvic or abdominal pain. The three patients with benign PEComa underwent total hysterectomy and bilateral adnexectomy, tumor excision and conservative management, respectively, while both malignant cases underwent total hysterectomy and bilateral adnexectomy followed by chemotherapy. Regular follow-up (from 6 to 24 months) revealed recurrence in one case. Two lesions were misdiagnosed as uterine fibroids, two as cervical cancer, one as metastatic cervical cancer (with myometrial invasion) and one was indeterminate. Ultrasound examination showed that most lesions displayed regular round or ovoid shapes (66.7%), uniform echoes (66.7%) and hypoechogenicity (66.7%), with one (16.7%) malignant PEComa showing cystic areas and one (16.7%) benign PEComa showing punctate calcifications. All lesions lacked shadowing and the majority showed moderate to abundant vascularity (color score of 3-4, 83.3%). The color score was 2-4 in the periphery in 100% of cases and internally in 83.3% of cases. The three benign PEComas showed similar characteristics in vascular distribution, with scattered internal vessels and peripheral vessels exhibiting a circular pattern. The literature search identified 11 articles describing the ultrasonographic appearance of 18 cases of uterine PEComa, with similar characteristics to those in our cohort. The sonographic features of uterine PEComa include a uniform or non-uniform hypoechogenic mass, typically round or ovoid with regular margins, occasionally containing cystic areas or calcifications, lacking shadowing and often showing moderate to abundant vascularity. Although the preoperative ultrasound diagnosis of uterine PEComa remains challenging, particularly given the non-specific nature of the sonographic characteristics described here, dispersed intratumoral vessels and a peripheral circular vascular distribution may serve as diagnostic clues for uterine PEComa, but more cases are needed for confirmation. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.

Early detection of cervical tumor cell of origin through Oncogene-induced senescent HPV-positive cells.

Human Papilloma Virus (HPV) is an oncogenic virus and is the most common cause of cervical cancer. HPV has been shown to induce senescence. Cellular senescence is involved in cancer progression and tumorigenesis. Identification and isolation of cells of tumor origin before tumorigeneses is an important step in cancer prevention and treatment. This study aimed to investigate the early cervical atypical senescent cytological preneoplastic change in non-menopausal women. Cervical smears of 121 patients were randomly selected and included in the study which cytopathologically diagnosed as atypical squamous cells of undetermined significance (AS-CUS) in correlation to HPV status, parakeratosis (PK), p16 immunostaining, enlarged Squamous cells nuclei (ES) and inflammatory cells infiltration (ICI). Results revealed that out of the total 121 patients, 32 cases (26%) were positive for high-risk HPV (HR-HPV), 26 cases (22%) were positive for low-risk HPV (LR-HPV) and 63 (52%) were negative for HPV. HPV infections were significantly associated with age groups (p<0.026), PK (p = 0.043), p16 (p = 0.001), ES (p = 0.002) and ICI (p = 0.049). The positive immunostaining expression of p16 was only noticed in two HR-HPV patients. ES cells were found in 9.5% of HPV-negative cases, 27% of LR-HPV cases and 40.5% of HR-HPV cases. High PK cell positivity was seen only in HR-HPV. High ICI scores were seen in 40.6% of HR-HPV patients, 26.9 % of LR-HPV and 17.4 % of negative HPV patients. It was concluded that high PK positivity, high ICI score, positive p16 immunostaining and ES were correlated with HR-HPV in non-menopausal women. These findings could provide potential diagnostic clues for HPV-harboring senescent cells as a strategy for reducing HPV risk of cervical cancer development and identifying the cell of tumor origin, which could be beneficial for improving the utility of senolytic agents and immunotherapy in clinical practice.

Anti-NMDA receptor encephalitis fatal case was mistaken as a debut of schizophrenia: the devil is in the psychopathological details

The article presents the clinical case of the patient Victor, 42 years old, who was admitted to a psychiatric hospital in an acute psychotic state with schizophreniform symptoms. His illness progressed rapidly, and at different stages, epileptic paroxysms and disorders of consciousness joined the symptoms typical of schizophrenia. It was then that the question arose of the need to revise the diagnosis of schizophrenia, to carry out a targeted neurological examination and to correct of the treatment regimen. Victor’s case, which ended in death, raises questions for psychiatrists about finding significant differential diagnostic criteria for distinguishing schizophrenia from schizophrenia-like psychoses. To avoid mistakes, it is proposed to rely on the so-called. “diagnostic clues” and “red flags” in identifying the psychopathology of anti-NMDA receptor encephalitis.

A-284 VEXAS: a new clonal disease with specific diagnostic clues

A-284 VEXAS: a new clonal disease with specific diagnostic clues

Lactate Gap: A Diagnostic Clue for Diagnosing and Managing Ethylene Glycol Poisoning

Lactate Gap: A Diagnostic Clue for Diagnosing and Managing Ethylene Glycol Poisoning

Use of ICHD-3rd diagnostic criteria in determining the prevalence of migraine in childhood; school-based cross-sectional questionnaire study

ABSTRACT Objective This study aimed to determine the relationship between migraine prevalence and its diagnostic features in school children. Methods This study was conducted on children aged 10–18 year who were randomly selected from 22 middle and 26 high schools. Questionnaires were prepared in Turkish with demographic (9 items) and headache characteristics (ICHD-3rd-based headache screening questionnaire, 11 items). Results A total of 1450 surveys were properly filled out. Female/male ratio was 798/652 (55%÷45%) and the mean age was 14.4 years ± 2.1. 96.4% of the population in this study. According to the criteria of headache attack number (≥4 attacks), character (pulsatile) and duration (≥1 h), the prevalence of migraine in the studied population was 23.1%. Conclusion Population-based studies are important because they provide information on diagnosing migraine, which is a public health priority in childhood, and contribute to creating the world migraine atlas. Although additional diagnostic clues are needed to determine the prevalence of migraine in childhood, we still widely use headache screening questionnaires based on ICHD-3rd.

Mpox challenges in a clinical setting: patterns of skin lesions, diagnostic clues, and long-term consequences.

Mpox challenges in a clinical setting: patterns of skin lesions, diagnostic clues, and long-term consequences.

Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China

BackgroundThis study aimed to investigate the clinical and molecular genetic characteristics of ten children with ornithine carbamoyltransferase deficiency (OTCD) in southeastern China, as well as the correlation between the genotype and phenotype of OTCD.MethodsA retrospective analysis was performed on the clinical manifestations, laboratory testing, and genetic test findings of ten children with OTCD admitted between August 2015 and October 2021 at Quanzhou Maternity and Children’s Hospital of Fujian Province in China.ResultsFive boys presented with early-onset symptoms, including poor appetite, drowsiness, groaning, seizures, and liver failure. In contrast, five patients (one boy and four girls) had late-onset gastrointestinal symptoms as the primary clinical manifestation, all presenting with hepatic impairment, and four with hepatic failure.Nine distinct variants of the OTC gene were identified, including two novel mutations: c.1033del(p.Y345Tfs*50) and c.167T > A(p.M56K). Of seven patients who died, five had early-onset disease despite active treatment. Three patients survived, and two of them underwent liver transplantation.ConclusionsThe clinical manifestations of OTCD lack specificity. However, elevated blood ammonia levels serve as a crucial diagnostic clue for OTCD. Genetic testing aids in more accurate diagnosis and prognosis assessment by clinicians. In addition, we identified two novel pathogenic variants and expand the mutational spectrum of the gene OTC, which may contribute to a better understanding of the clinical and genetic characteristics of OTCD patients.

Intracranial vasculopathy with MR vessel wall imaging: a case series.

Conventional luminal imaging, often the first line investigation, has helped physicians in diagnosing countless patients with cerebrovascular disease but regrettably, it offers little diagnostic clues in patients with challenging vasculopathy, which the latter often requires invasive histopathological diagnosis. In past decade, MR vessel wall imaging has quickly emerged as a non-invasive modality that greatly enhances radiologists' capability of differentiating underlying aetiology. Not only it minimizes surgical trauma to patients, but also provide timely and accurate diagnosis for physicians to offer prompt appropriate treatment and avoid devastating outcomes. Tuen Mun Hospital, the neuroscience centre serving more than 1.3 million population in New Territories, Hong Kong, has been the pioneer in optimizing this novel modality within the district. In this article, we hope to share few interesting cases in our centre on how we utilize its advantage in solving some challenging cases. We would also discuss some common imaging pitfalls and tips on interpretation.

Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review

Objective: To summarize the clinical features and genetic characteristics of Congenital bile acid synthetic disorder type 3 (BASD3) disorder caused by CYP7B1 gene variation. Methods: This was a case series study. Clinical data and genetic results of 2 cases of congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variations in the Department of Infectious Diseases, Children's Hospital of Fudan University at Xiamen and Department of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University from January 2021 to December 2023 were retrospectively collected and analyzed. Literature up to December 2023 was searched from electronic databases of China National Knowledge Infrastructure (CNKI), Wanfang Data and PubMed with the combined keywords of " Congenital bile acid synthetic disorder type 3""Oxysterol 7-alpha-hydroxylase""Oxysterol 7α-Hydroxylase Deficiency""BASD3" and "CYP7B1 liver" both in Chinese and English. The main clinical features and genetic characteristics of BASD3 disorder caused by CYP7B1 gene variations were summarized. Results: Two BASD3 patients, 1 male and 1 female, were admitted at the ages of 3 months and 18 days, and 2 months and 7 days, respectively. Both patients presented with neonatal cholestasis and hepatomegaly. Biochemical evidence indicated direct hyper-bilirubinemia with elevated aminotransferase levels, while gamma-glutamyltransferase (GGT) and total bile acid levels were normal or nearly normal. Patient 1 was a compound heterozygotes of the CYP7B1 gene variants c.525-526insCAAGTTGG(p.Asp176GInfs*15) and c.334C>T(p.Arg112Ter). Patient 1 jaundice resolved and liver function tests normalized after oral administration of chenodeoxycholic acid (CDCA). Patient 2 was homozygous for variant c.334C>T(p.Arg112Ter) in CYP7B1 gene. Patient 2 was in liver failure status already and not reactive to oral CDCA administration. Patient 2 received living-related liver transplantation for enhanced abdominal CT revealed a liver tumor likely vascular origin. Literature review revealed no cases of BASD3 reported in Chinese literature, including 2 patients in this study, while 12 patients (9 males and 3 females) were reported in 9 English literatures. All of the 12 manifested jaundice and hepatosplenomegaly in infancy, with cirrhosis, liver failure, kidney enlargement, hypoglycemia, and spontaneous bleeding in some cases, polycystic kidney disease was demonstrated in 5 cases of them. The c.334C>T (p.Arg112Ter) of the CYP7B1 gene was homozygous in 4 cases and compound heterozygous in 2 cases. Among the 12 children, 6 cases received CDCA treatment, while 6 cases not. Four survived with their native liver in the 6 cases who received CDCA therapy, while none in the 6 cases not received CDCA therapy. Conclusions: BASD3 is a rare hereditary cholestatic disorder. Markedly elevated levels of conjugated bilirubin and aminotransferases, with normal or nearly normal GGT and total bile acid levels can serve as diagnostic clue. c.334C>T is the most common pathogenic variant of the CYP7B1 gene. Timely administration of CDCA may save the liver.

Retinal changes in preeclampsia

Background: The eye undergoes a series of physiological changes during pregnancy in response to metabolic and hormonal adaptation. Preeclampsia (PE) is the main cause of maternal morbidity and is associated with serious pregnancy-related complications. Characterized by hypertension and proteinuria, PE affects 2–8% of pregnancies globally. Previous studies have indicated that PE compromises retinal health. We examined the effects of PE on retinal structure and vasculature. Methods: We conducted a literature review by searching PubMed/MEDLINE, Embase, and Scopus using terms pertaining to PE and the retina. The review included articles published between January 1, 1990, and May 30, 2024. The articles were selected based on their relevance to the topic. The key findings are summarized to offer a comprehensive overview of current knowledge, highlight the pathophysiology and manifestations of PE-related retinal changes, and propose clinical implications, diagnostic clues, and management strategies. Results: PE is associated with visual disturbances caused by various retinal changes, including arteriolar narrowing, vasospasm, hemorrhages, exudates, serous retinal detachment, macular edema, retinal vein occlusion, and choroidal ischemia. These are mostly evident on fundus examination and frequently resolve postpartum. The underlying pathophysiology involves endothelial dysfunction, hypertension, inflammation, and coagulopathy. These retinal changes have immediate clinical implications and long-term risks, necessitating early detection, prompt multidisciplinary management, and close follow-up. Although most PE-associated retinal disturbances spontaneously resolve after the termination of pregnancy, one-third of patients are likely to experience long-lasting consequences Conclusions: Visual disturbances may precede and portend the onset of PE. Early detection and prompt management will mitigate fetal and maternal morbidity and mortality. Understanding the underlying pathophysiology of PE-related retinal manifestations is crucial for optimal management, because the majority of manifestations are reversible. Although retinal changes secondary to PE typically resolves postpartum, some studies demonstrated that women with PE may have a higher long-standing risk of ocular disorders. A multidisciplinary team approach involving obstetricians, ophthalmologists, and healthcare providers is essential for the immediate and long-term management of ocular consequences in pregnancy. Consequently, additional studies associated with robust methodologies are required to develop clinical guidelines.

Myocardial Strain Imaging: Theory, Current Practice, and the Future.

Myocardial strain imaging by echocardiography or cardiac magnetic resonance (CMR) is a powerful method to diagnose cardiac disease. Strain imaging provides measures of myocardial shortening, thickening, and lengthening and can be applied to any cardiac chamber. Left ventricular (LV) global longitudinal strain by speckle-tracking echocardiography is the most widely used clinical strain parameter. Several CMR-based modalities are available and are ready to be implemented clinically. Clinical applications of strain include global longitudinal strain as a more sensitive method than ejection fraction for diagnosing mild systolic dysfunction. This applies to patients suspected of having heart failure with normal LV ejection fraction, to early systolic dysfunction in valvular disease, and when monitoring myocardial function during cancer chemotherapy. Segmental LV strain maps provide diagnostic clues in specific cardiomyopathies, when evaluating LV dyssynchrony and ischemic dysfunction. Strain imaging is a promising modality to quantify right ventricular function. Left atrial strain may be used to evaluate LV diastolic function and filling pressure.