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1.
Ultrasound ; 32(2): 128-134, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38694826

RESUMO

Introduction: Undifferentiated sarcoma is considered a rare and aggressive type of soft tissue sarcoma with the lower extremity reported as the common site for soft tissue sarcomas. Case presentation: We present a rare incidental finding of undifferentiated sarcoma during lower limb Doppler ultrasound with a presenting symptom of right thrombotic-like calf pain in a 49-year-old female. Discussion: On ultrasound, the presented undifferentiated sarcoma appeared as a large heterogeneous, oval-shaped, soft tissue mass deeply seated in the right calf with involvement of the soleus muscle. The features on ultrasound mimicked those of a hematoma; however, the possibility of the lesion being a haematoma was promptly ruled out with the demonstration of internal vascularity on colour Doppler application. The case was then referred to a sarcoma triage multidisciplinary team for a review. Magnetic resonance imaging, computed tomography and biopsy were parts of the diagnostic workup for this case, histology confirmed the soft tissue lesion to be an undifferentiated sarcoma. Emergency above knee amputation of the right leg was performed as part of the patient's treatment. Conclusion: This case report presents a rare incidental finding of undifferentiated sarcoma encountered during lower limb Doppler ultrasound causing thrombotic-like calf pain. Sonographers are encouraged to pay necessary attention and carefully examine any adjacent and incidental soft tissue lesion during lower limb Doppler ultrasound using compression, two-dimensional imaging and colour imaging, especially those that appear with characteristic features of malignancy; urgent referral should be made of such cases to a tertiary soft tissue sarcoma centre for further evaluation and management.

2.
J Emerg Med ; 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38816260

RESUMO

BACKGROUND: Incidental findings are unrelated to a patient's complaint, found on diagnostic imaging, such as point-of-care ultrasound (POCUS). Incidental findings represent potential harms to patients and may lead to increased patient anxiety and health care costs related to downstream testing and surveillance. STUDY OBJECTIVES: In this study, we aimed to calculate the rate of incidental renal cysts found by POCUS. Further, we hoped to describe how emergency physicians relay the findings to patients. Lastly, we hoped to examine if patients suffered harms in the 12 months following identification of an incidental renal cyst. METHODS: From our single-center, academic emergency department (ED), we reviewed renal POCUS images from 1000 consecutive adult ED patients to determine if there was a renal cyst. Next, we performed manual chart review to determine if patients were informed of the incidental renal cyst or suffered any patient harms. RESULTS: We found the prevalence of renal cysts to be 6.5% (95% confidence interval: 4.9%-8.4%). Those with cysts were more likely to be older compared to those without (63 ± 14 vs. 49 ± 15 years of age). Only 8% of patients had evidence that they were informed of their incidental renal cyst. No patients received a biopsy or were diagnosed with renal cell carcinoma or polycystic kidney disease. CONCLUSION: Incidental renal cysts are common and are more likely to be found in older adults. In our study, physicians infrequently informed patients of their incidental finding.

3.
Emerg Radiol ; 31(3): 321-330, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38619803

RESUMO

BACKGROUND: Sickle cell disease (SCD) is a genetic hematological disorder associated with severe complications, such as vaso-occlusive crises, acute chest syndrome (ACS), and an increased risk of thromboembolic events, including pulmonary embolism (PE). The diagnosis of PE in SCD patients presents challenges due to the overlapping symptoms with other pulmonary conditions. Our previous study revealed that nearly 96% of computed tomography pulmonary angiography (CTPA) scans in SCD patients were negative for PE, highlighting a gap in understanding the significance of CTPA findings when PE is absent. METHODS: In this retrospective follow-up study conducted at the Salmaniya Medical Complex in Bahrain, we examined SCD patients with HbSS genotypes who underwent CTPA from January 1, 2018, to December 31, 2021, for suspected PE, but the results were negative. The aim of this study was to identify alternative diagnoses and incidental findings from CTPA scans. Experienced radiologists reviewed the CTPA images and reports to assess potential alternative diagnoses and incidental findings, incorporating an additional analysis of chest X-rays to evaluate the diagnostic value of CTPA. Incidental findings were classified based on their location and clinical significance. RESULTS: Among the 230 evaluated SCD patients (average age 39.7 years; 53% male) who were CTPA negative for PE, 142 (61.7%) had identifiable alternative diagnoses, primarily pneumonia (49.1%). Notably, 88.0% of these alternative diagnoses had been previously suggested by chest radiographs. Furthermore, incidental findings were noted in 164 (71.3%) patients, with 11.0% deemed clinically significant, necessitating immediate action, and 87.8% considered potentially significant, requiring further assessment. Notable incidental findings included thoracic abnormalities such as cardiomegaly (12.2%) and an enlarged pulmonary artery (11.3%), as well as upper abdominal pathologies such as hepatomegaly (19.6%), splenomegaly (20.9%), and gallstones (10.4%). CONCLUSION: This study underscores the limited additional diagnostic yield of CTPA for identifying alternative diagnoses to PE in SCD patients, with the majority of diagnoses, such as pneumonia, already suggested by chest radiographs. The frequent incidental findings, most of which necessitate further evaluation, highlight the need for a cautious and tailored approach to using CTPA in the SCD population.


Assuntos
Anemia Falciforme , Angiografia por Tomografia Computadorizada , Achados Incidentais , Embolia Pulmonar , Humanos , Anemia Falciforme/diagnóstico por imagem , Anemia Falciforme/complicações , Masculino , Feminino , Embolia Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Adulto , Diagnóstico Diferencial , Seguimentos , Pessoa de Meia-Idade
4.
Fam Cancer ; 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38441833

RESUMO

Screening of the general population for cancer is a matter of primary prevention reducing the burden of disease. Whilst this is successful for several cancers including breast, colon and prostate, the situation to screen and hence prevent pancreatic cancer is different. The organ is not as accessible to simple physical exam or biological samples (fecal or blood test). Neither exists a blood test such as PSA that is cost-effective. Reviewing the evidence from screening risk groups for pancreatic cancer, one must conclude that there is no rational at present to screen the general population, for a lack of appropriate tests.

5.
Hepatol Forum ; 5(2): 87-89, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38487741

RESUMO

Riedel's lobe of the liver is a rare anatomical variant often incidentally found on imaging or through the presence of hepatomegaly on physical examination. While patients are usually asymptomatic, the presentation of this condition can vary, ranging from nonspecific symptoms to more severe issues such as torsion, obstruction, rupture, and bleeding. We present a case of a patient with asymptomatic hepatomegaly who was incidentally found to have Riedel's lobe of the liver, accompanied by an elevated IgG mitochondrial antibody. The range of symptoms associated with this rare anatomical variation underscores its importance in diagnosis and surveillance within this patient population.

6.
Curr Med Imaging ; 2024 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-38494907

RESUMO

INTRODUCTION: While pulmonary vein filling defects on CT are typically considered diagnostic for thrombus, under certain circumstances, they can be artifactual as a result of flow phenomena. CASE PRESENTATION: We report a case of a 53-year-old female with chest pain who was found to have filling defects in pulmonary vein branches on CCTA that were initially treated as thromboses. However, follow-up cardiac MRI was negative for thrombi, and pseudo-thrombosis was therefore diagnosed. CONCLUSION: Pulmonary vein pseudo-thrombosis should be considered in the differential diagnosis of pulmonary vein filling defects.

7.
Int J Surg Case Rep ; 116: 109430, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38428056

RESUMO

INTRODUCTION AND IMPORTANCE: Intestinal malrotation is a congenital abnormality predominantly diagnosed in children, with only a few cases reported in adults. Patients may be incidentally identified during unrelated surgical procedures or postmortem examinations. It is crucial to promptly recognize this condition to prevent severe complications such as bowel ischemia and potential fatality. CASE PRESENTATION: A 40-year-old male presented to the Emergency Department after a child jumped on his abdomen with complaints of acute left upper quadrant abdominal pain progressing to be generalized. Examination showed pallor, abdominal tenderness without guarding or rigidity, and intact bowel sounds. Preoperative diagnostic tools revealed intestinal malrotation confirmed during the laparotomy, prompting the performance of Ladd's procedure to address the malrotation. CLINICAL DISCUSSION: Disruption in the normal embryological development of bowel is the cause of intestinal malrotation. The role of additional surgery especially in patients with asymptomatic disease related to malrotation is debated. CONCLUSION: Intestinal malrotation is rare in adults and often found incidentally during evaluation for unrelated medical conditions. Timely identification and surgical intervention usually result in positive outcomes. Our case underscores the incidental discovery of malrotation during the evaluation of blunt abdominal trauma, treated with Ladd's procedure. This is particularly significant due to geographical constraints associated with the patient's rural origin, as untreated malrotation could lead to complications in future occurrences.

8.
Ann Diagn Pathol ; 71: 152296, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38531239

RESUMO

Mesothelial/monocytic incidental cardiac excrescence (MICE) is a rare benign lesion composed of monocytes and mesothelial cells that is most often encountered during cardiothoracic surgery. We describe a case in a 71-year-old man with known aortic valve stenosis who presented with gradual onset dyspnea over a few weeks, made worse with minimal exertion. A transesophageal echocardiogram revealed severe aortic stenosis and mild pericardial effusion. The patient underwent aortic valve replacement, coronary artery bypass, and amputation of the left atrial appendage. Histological examination of a 0.8 cm blood clot received along with the atrial appendage showed an aggregation of bland cells with features of monocytes associated with small strands and nodules of mesothelial cells, fat cells, fibrin and a minute fragment of bone. Immunohistochemical analysis showed that the monocytic cells were positive for CD4 and CD68 (strong) and negative for calretinin and keratin. By contrast, the mesothelial cells were positive for calretinin and keratin and negative for all other markers. In sum, the morphologic and immunohistochemical findings support the diagnosis of MICE. Based on our review of the literature, about 60 cases of MICE have been reported previously which we have tabulated. We also discuss the differential diagnosis.

9.
Cureus ; 16(2): e54382, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38505454

RESUMO

We outline the presentation of a 68-year-old woman who received a chest radiograph due to her insurance requirements, resulting in the discovery of a left-sided pleural effusion. The effusion was further characterized as loculated on subsequent imaging. Thoracentesis yielded exudative fluid, leading to the patient undergoing video-assisted thoracoscopic surgery (VATS). During this procedure, a cystic mass was visualized, with the conversion of the operation to an open thoracotomy and left lower lobe lobectomy. Pathology was positive for spindle cell sarcoma. A thorough history of the patient revealed a decades-long occupational exposure to asbestos. The significance of this report is to illustrate the clinical presentation, immunohistochemical characteristics, and management of a rare spindle cell malignancy. Our case also raises the importance of screening patients on an individualized, shared decision-making basis.

10.
Br J Radiol ; 97(1154): 371-376, 2024 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-38268227

RESUMO

OBJECTIVE: The introduction of Targeted Lung Health Checks (TLHC) to screen for lung cancer has highlighted that incidental findings are common and require management strategies. This study analyses retrospectively, incidentally detected breast lesions reported as part of the TLHC referred to the Breast Cancer clinicians. METHODS: All participants with incidental breast nodules referred to the Breast Cancer team in the first year of screening were reviewed. RESULTS: Fifty-two participants (48 female; 92.3%) were referred to the Breast Multidisciplinary Team Meeting for assessment of 43 breast nodules, 8 breast asymmetry/dense breasts, and 2 likely breast related metastatic disease. One participant declined breast team referral. For the 42 breast nodules investigated, the final diagnoses were 5 breast carcinomas, 10 normal breast tissue, and 27 benign nodules. One male patient was diagnosed with breast carcinoma. The 29 breast nodules classified as smooth and well defined were all benign. No malignancy was demonstrated in the group with asymmetric or dense breast tissue. Metastatic breast carcinoma was confirmed in two participants. Twenty-six out of thirty-seven (54%) females had prior breast screening mammograms precluding further investigation. CONCLUSION: Incidental breast nodules are common on THLC scans. Smooth, sharply defined breast nodules are likely to be benign but low-dose CT is poor at accurately assessing breast nodules. Agreed breast referral pathways prior to starting the Lung Cancer Screening programme are recommended. Access to screening mammograms can reduce referrals to the Breast clinic. ADVANCES IN KNOWLEDGE: Lessons learned from TLHC pilot studies can be useful to sites commencing national TLHC programme.


Assuntos
Neoplasias da Mama , Neoplasias Pulmonares , Humanos , Masculino , Feminino , Neoplasias Pulmonares/diagnóstico por imagem , Estudos Retrospectivos , Achados Incidentais , Detecção Precoce de Câncer , Densidade da Mama , Tomografia Computadorizada por Raios X/métodos , Neoplasias da Mama/diagnóstico por imagem , Mamografia , Pulmão/diagnóstico por imagem
11.
J Am Heart Assoc ; 13(3): e031489, 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38240222

RESUMO

BACKGROUND: Embolic stroke of unknown source (ESUS) accounts for 1 in 6 ischemic strokes. Current guidelines do not recommend routine cardiac magnetic resonance (CMR) imaging in ESUS, and beyond the identification of cardioembolic sources, there are no data assessing new clinical findings from CMR in ESUS. This study aimed to assess the prevalence of new cardiac and noncardiac findings and to determine their impact on clinical care in patients with ESUS. METHODS AND RESULTS: In this prospective, multicenter, observational study, CMR imaging was performed within 3 months of ESUS. All scans were reported according to standard clinical practice. A new clinical finding was defined as one not previously identified through prior clinical evaluation. A clinically significant finding was defined as one resulting in further investigation, follow-up, or treatment. A change in patient care was defined as initiation of medical, interventional, surgical, or palliative care. From 102 patients recruited, 96 underwent CMR imaging. One or more new clinical findings were observed in 59 patients (61%). New findings were clinically significant in 48 (81%) of these patients. Of 40 patients with a new clinically significant cardiac finding, 21 (53%) experienced a change in care (medical therapy, n=15; interventional/surgical procedure, n=6). In 12 patients with a new clinically significant extracardiac finding, 6 (50%) experienced a change in care (medical therapy, n=4; palliative care, n=2). CONCLUSIONS: CMR imaging identifies new clinically significant cardiac and noncardiac findings in half of patients with recent ESUS. Advanced cardiovascular screening should be considered in patients with ESUS. REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT04555538.


Assuntos
AVC Embólico , Embolia Intracraniana , Acidente Vascular Cerebral , Humanos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/epidemiologia , Prevalência , Estudos Prospectivos , Imageamento por Ressonância Magnética , Embolia Intracraniana/diagnóstico por imagem , Embolia Intracraniana/epidemiologia , Fatores de Risco
12.
Vasc Endovascular Surg ; 58(2): 172-177, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37766474

RESUMO

Introduction: Aberrant right subclavian artery (ARSA) is the most common of the aortic arch anomalies, occurring in .5% to 1% of the population. There is no standardized follow up protocol, especially in the asymptomatic cases. The purpose of the present study was to evaluate the natural history of ARSA and the role of serial CT scans. Methods: This is a single-center retrospective study of patients with ARSA depicted on chest computed tomography (CT) scans between February 2013 and July 2022. Data were collected from their medical records. Measurements of the aorta at different segments including the aortic diameter at the orifice of ARSA, and ARSA at ostium followed by 1 cm intervals were collected, as well as for follow-up CT scans. Results: 65 patients were diagnosed with ARSA, 70.8% of whom were women. The average age for the cohort was 58.569 ± 16.99 years. The median follow up time was 4 years (range 0-10 years), KM estimated survival after ARSA diagnosis at 1 and 5 years as 97% and 93%, respectively. Nineteen patients had a second CT scan and were included in the morphological CT dynamic analysis, on average of 29 ± 27 months apart (range 7-108). The mean ARSA diameter at origin was larger in the second scan 16.91 ± 4.31 mm compared to the initial scan 16.31 ± 4.96 mm, (P = .04).The mean aortic arch diameter in the first and second CT were 28.54 ± 4.24 and 29.64 ± 5.14 (P = .10), respectively. All other measurements did not disclose any significant enlargement over time. Conclusions: Our cohort demonstrate a benign natural history of ARSA with slow growth rates. However, due to our small sample size we can't draw a clinically sound recommendation on the need for imaging follow up, and further larger cohort with longer follow up interval are required.


Assuntos
Anormalidades Cardiovasculares , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Masculino , Seguimentos , Estudos Retrospectivos , Resultado do Tratamento , Anormalidades Cardiovasculares/diagnóstico por imagem , Anormalidades Cardiovasculares/epidemiologia , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/anormalidades , Tomografia Computadorizada por Raios X , Demografia
13.
Radiol Case Rep ; 19(2): 695-699, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38074430

RESUMO

A 45-year-old male patient with clinically suspected schizophrenia was referred for an MRI brain to look for organicity. An incidental lesion was noted on the right side of the tubercinerium with suspicious findings of osteolipoma. T1 and T2 weighted sequences showed a hyper-intense lesion suggestive of fatty intensity or hemorrhage. A homogenous blooming artefact was seen on gradient imaging suggestive of a calcific/hemorrhagic element. The referring clinician was conveyed the findings asking about the need for further imaging by CT. The patient was started on antipsychotics for schizophrenia. One week later, a CT head was obtained, which showed a fatty density lesion with a smooth, peripheral rim of hyperdensity. The HU value matched rim calcification suggesting radiological diagnosis of osteolipoma. The patient was kept under close observation and no specific therapy was guided to this lesion. The patient was responding well to pharmacotherapy (in terms of control of symptoms) confirming osteolipoma as an incidental finding. This case report establishes the role of adequate imaging in subtle brain lesions which may mimic primary lesion-producing neurological symptoms. The importance of clinical judgment and follow-up in guiding suitable therapy is also highlighted.

14.
Gen Dent ; 72(1): 43-45, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38117640

RESUMO

The odontoma is regarded as a hamartomatous process of the jaws. Most are discovered as an incidental radiographic finding, averaging 15 mm in size. This report describes a case of a diminutive odontoma that was surgically removed before the onset of eruptive and pathologic consequences. A compilation of documented complications and syndromes associated with odontomas is also presented.


Assuntos
Odontoma , Criança , Humanos , Odontoma/diagnóstico por imagem , Odontoma/cirurgia , Erupção Dentária
15.
Oral Radiol ; 40(2): 207-218, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38102453

RESUMO

OBJECTIVES: To investigate the prevalence of incidental findings and need for further dental treatment and analyse the influence of size of field-of-view (FOV) and age in cone beam computed tomography (CBCT) for pre-implant planning. METHODS: 404 CBCT scans were examined retrospectively for incidental findings and need for further dental treatment. Incidental finding-frequencies and need for further treatment were assessed for different age (< 40 years, 40-60 years, > 60 years) and FOV groups (small, medium, large). Intraexaminer and interexaminer agreements were evaluated. RESULTS: In 82% of the scans at least one incidental finding was found, with a total of 766 overall. More incidental findings were found in scans with large FOV (98% vs. 72%, OR = 22.39 large vs. small FOV, p < 0.0001) and in scans of patients > 60 years (OR = 5.37 patient's age > 60 years vs. < 40 years, p = 0.0003). Further dental treatment due to incidental findings was needed in 31%. Scans with large FOV were more likely to entail further treatment (OR = 3.55 large vs. small FOV, p < 0.0001). Partial edentulism and large FOV were identified as risk factors for further treatment (p = 0.0003 and p < 0.0001). Further referral of the patient based on incidental findings was judged as indicated in 5%. Intra- and inter-examiner agreements were excellent (kappa = 0.944/0.805). CONCLUSIONS: A considerable number of incidental findings with need for further dental treatment was found in partially edentulous patients and in patients > 60 years. In pre-implant planning of elderly patients, the selection of large FOV CBCT scans, including dentoalveolar regions not X-rayed recently, help to detect therapeutically relevant incidental findings.


Assuntos
Achados Incidentais , Tomografia Computadorizada de Feixe Cônico Espiral , Humanos , Idoso , Adulto , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia Computadorizada de Feixe Cônico/métodos
16.
Cureus ; 15(9): e45262, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37846259

RESUMO

A quadricuspid aortic valve (QAV) is a rare congenital anomaly characterized by the presence of four leaflets in the aortic valve. We are reporting a case of a 59-year-old male who presented to the emergency department with non-cardiac chest pain. The discovery of QAV during the evaluation highlights the importance of considering cardiac causes, even in cases where the presenting symptoms may not appear directly related to the heart.

17.
Cesk Patol ; 59(3): 96-103, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37805266

RESUMO

Dermatopathology is a distinct part of pathology revealing the rich association with soft tissue pathology and hematopathology. Regarding the number and diversity of the skin disorders, dermatopathology is a broad specialty encompassing hundreds of diseases. The diagnostics in dermatopathology contains a range of specific features. The article summarizes several practically important pitfalls in dermatopathology. The adequate timing and locality selection for proper sampling are emphasized. The influence of the topical therapy on the histopathological picture is debated. The frequently used surgical procedures in the skin biopsy are presented. The most frequent incidental findings and artifacts in cutaneous pathology are discussed. Problematics of the alopecia examination and direct immunofluorescence are added. Clinical-pathological correlation performed by the pathologist, and subsequently by the dermatologist, is the essential step in the diagnostic process. The knowledge transcending to the other specialty and reciprocal communication are prerequisite for the right diagnosis.


Assuntos
Dermatopatias , Humanos , Dermatopatias/diagnóstico , Dermatopatias/patologia , Pele/patologia , Biópsia
18.
Urol Case Rep ; 51: 102568, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37781485

RESUMO

Background: Malakoplakia is a rare disorder 75% of the reported cases affect mainly the genitourinary tract, its occurrence in the adrenal gland is extremely rare. Case presentation: A 65-year-old female patient presented to the emergency department for chronic abdominal pain. Radiographic and biochemical studies revealed a left adrenal incidentaloma and left adrenalectomy was performed. Histological examination showed the presence of Michaelis-Gutmann bodies, compatible with a malakoplakia of the adrenal gland. Conclusions: Malakoplakia is a rare disorder, with non-standardized treatment, medical and surgical therapies appear to be effective in treating the condition.

19.
Surg Neurol Int ; 14: 327, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37810289

RESUMO

Background: Colloid cysts, common benign lesions of the third ventricle, have rarely been reported in uncommon extraventricular locations such as the pituitary fossa. Even in the sellar region, it is usually seen between the anterior and posterior pituitary lobes (pars intermedia). Case Description: Here, we report a case of a female patient, who was incidentally diagnosed with a sellar colloid cyst, while being evaluated for nonspecific holocranial headache. On imaging, there was a lesion located in the anterior sellar region, compressing the whole pituitary gland posteriorly (first reported case to the best of our knowledge), that was found to be a colloid cyst intraoperatively during microsurgical excision through transnasal transsphenoidal route. Conclusion: This rare entity should be kept in mind while considering lesions of the pituitary region, as evident by typical radiological features, in spite of being located in a less likely site.

20.
Child Neurol Open ; 10: 2329048X231199327, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37664540

RESUMO

Genetic evaluation of a teenager with seizure found no pathogenic variant in a large gene panel, but an incidental likely pathogenic HNF4A variant, deemed to cause MODY1 diabetes. Diabetes history was absent and glycated hemoglobin normal, but serum calcium was severely low, with abnormally high parathyroid hormone. Thus, pseudohypoparathyroidism was suspected and confirmed by molecular genetic testing. Calcium and calcitriol supplementation led to calcium normalization and neurological symptom improvement. Given the absence of personal or family diabetes history, the HNF4A variant was reassessed and found to encode an alternative transcript with poor expression and activity levels, hence downgraded on expert advice from 'likely pathogenic' to 'likely benign'. Besides illustrating the importance of structured medical workup before launching extensive targeted exome sequencing, this case highlights the need for caution in incidental finding interpretation in patients lacking compatible phenotype or family history, and the value of expert advice in such variant interpretation.

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