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"Case Reports"

Case Reports
Endometrial cancer in a young nulliparous woman: a case report
Herfiana Mohd Rapi, Azlina Ishak, Juliawati Muhammad, Engku Ismail Engku-Husna
Received June 13, 2025  Accepted August 24, 2025  Published online December 26, 2025  
DOI: https://doi.org/10.4082/kjfm.25.0163    [Epub ahead of print]
Prolonged or irregular menstrual bleeding is common in women, particularly in the early years after menarche. Over time, menstrual cycles often become regular; however, persistently irregular menstruation warrants further investigation. Serious conditions, such as endometrial cancer, which is often linked to prolonged unopposed estrogen exposure, can be prevented with timely detection. We report a case involving a 27-year-old obese, nulliparous woman with a history of prolonged irregular menstrual bleeding since menarche. She had not undergone regular health checkups and had never been properly evaluated until multiple admissions for severe anemia prompted further investigation, which confirmed the diagnosis of endometrial carcinoma. Delays in seeking care for abnormal menstrual bleeding resulted in serious outcomes. Endometrial carcinoma may significantly reduce future fertility potential. Therefore, primary healthcare providers play a pivotal role in educating and raising public awareness about this frequently under-recognized issue, as timely investigation for early recognition is paramount.
  • 258 View
  • 10 Download
Paroxysmal nocturnal hemoglobinuria presenting with acute kidney injury in an 18-year-old male: a case report
Anum Rizwan, Sajid Islam Bhatti, Huda Raja, Tajammul Waqar, Sidra German
Received September 15, 2025  Accepted October 9, 2025  Published online December 24, 2025  
DOI: https://doi.org/10.4082/kjfm.25.0273    [Epub ahead of print]
Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired hematological disease resulting from somatic PIGA gene mutations. These mutations cause a deficiency in glycosylphosphatidylinositol-anchored–anchored proteins such as CD55 and CD59 on blood cell surfaces, leading to uncontrolled complement-mediated hemolysis. Although this condition is typically identified in individuals in their third or fourth decades of life, diagnosis during late adolescence is rare. Renal complications are a known feature of PNH; however, they present more frequently as a gradual decline in function rather than as a severe acute insult. This report describes the unusual case of an 18-year-old male who presented with a 6-month history of intermittent dark urine followed by an acute illness. Laboratory evaluation revealed severe Coombsnegative hemolytic anemia, significantly elevated lactate dehydrogenase levels, and acute kidney injury requiring immediate hemodialysis. Renal biopsy-confirmed pigment nephropathy, and high-sensitivity flow cytometry detected a large PNH clone, establishing the diagnosis of classical PNH. The patient's renal function improved with supportive care, but hemolysis persisted. This case highlights the fact that PNH can manifest in young adults with acute kidney injury as the primary presenting symptom. Including PNH in the differential diagnosis of patients with unexplained hemolytic anemia and renal impairment is crucial, even in atypical age groups. Prompt diagnosis is vital for initiating appropriate management, including supportive measures and the consideration of complementary inhibitor therapy, to improve outcomes.
  • 260 View
  • 8 Download
Hidden in plain sight: the diagnostic dilemma of tuberculous synovitis: a case report
Nadiah Ismail, Mohd Romzi Abd Rahman, Siti Aishah Ahmad Maulana
Received March 31, 2025  Accepted June 27, 2025  Published online November 18, 2025  
DOI: https://doi.org/10.4082/kjfm.25.0091    [Epub ahead of print]
Tuberculous synovitis (TS) is an infrequent yet significant manifestation of tuberculosis (TB), particularly in regions where TB is endemic. The clinical presentation of TS is often nonspecific yet distinctive, and diagnosis is confirmed by histopathological examination. Anti-TB therapy is the cornerstone of treatment, although the necessity of surgical intervention remains debated. A case was reported of a 73-year-old female patient who complained of left wrist pain and swelling for the past 3 years. The left wrist was swollen from the metacarpophalangeal joints to the mid-forearm. Radiography on the left forearm revealed extensive, mixed predominant osteolytic and sclerotic bony lesions affecting all the carpal bones. These findings were associated with increased size of a hyperdense soft tissue swelling. Magnetic resonance imaging revealed rim-enhancing multiple encapsulated cystic fluid collections at the distal radioulnar and carpal regions. A biopsy of the left wrist was performed, revealing TS. The patient was subsequently started with anti-TB therapy.
  • 304 View
  • 8 Download
Hallucination in artificial-intelligence-assisted diagnosis of arthritis: a case report
DaeHyun Kim
Received June 2, 2025  Accepted July 28, 2025  Published online October 29, 2025  
DOI: https://doi.org/10.4082/kjfm.25.0147    [Epub ahead of print]
Artificial intelligence (AI) technologies are increasingly being integrated into clinical practice, offering potential enhancements in diagnostic accuracy and clinical efficiency. In this case report, a diagnostic attempt assisted by ChatGPT-4o in a 51-year-old female patient presenting with hand arthralgia is described. The AI-generated interpretation demonstrated hallucination—namely, the fabrication of unsupported or inaccurate information—in the analysis of radiologic and laboratory findings, as well as in treatment recommendations. This case underscores the importance of exercising caution when applying AI tools in clinical contexts. To ensure diagnostic accuracy, patient safety, and ethical responsibility, expert oversight and multi-step verification processes are essential in the deployment of AI-generated clinical outputs.

Citations

Citations to this article as recorded by  
  • The Augmented Clinician: Artificial Intelligence as an Indispensable Co-pilot
    DaeHyun Kim
    Keimyung Medical Journal.2025; 44(2): 111.     CrossRef
  • 668 View
  • 32 Download
  • 1 Crossref
Russell body gastritis resolved after Helicobacter pylori eradication: a case report and review of the literature
Ji Hoon Jung, Ji Eun Park, Kye Yong Song, Yong Bog Kim, Soon Auck Hong
Korean J Fam Med 2025;46(6):452-457.   Published online September 17, 2025
DOI: https://doi.org/10.4082/kjfm.25.0117
Russell body gastritis (RBG) is a rare gastric inflammatory lesion characterized by dense infiltration of plasma cells containing Russell bodies (RBs) known as Mott cells. Here, we report a case of RBG that showed resolution 2 months after Helicobacter pylori eradication. A gastric biopsy revealed numerous eosinophilic globular RBs and signet ring cell-like Mott cells. H. pylori infection was identified on the surface of foveolar epithelial cells. Alcian blue staining was negative for RBs. Periodic acid–Schiff staining showed that most RBs were negative, with only a few RBs and Mott cells showing weak positivity. Immunohistochemical staining for immunoglobulin G (IgG), kappa, and lambda light chains was performed on paraffinembedded tissue. Plasma and Mott cells were positive for CD79a, CD138, IgG, kappa, and lambda. However, despite being traditionally considered as aggregates of immunoglobulin molecules, the majority of RBs are negative for IgG and light chain determinants. The marked reduction in RBs and reappearance of normal plasma cells following H. pylori eradication suggest that RB formation is a reversible and reactive process. However, the lack of staining in certain immunohistochemical analyses indicated the presence of unexpected alterations in immunoglobulin composition. The precise biochemical nature and fate of RBs warrant further investigation.
  • 793 View
  • 39 Download
A case report of semaglutide induced sarcopenia: causes of fatigue in older adults
Azwan Aziz Mohamad
Korean J Fam Med 2025;46(4):288-291.   Published online April 14, 2025
DOI: https://doi.org/10.4082/kjfm.25.0008
Semaglutide, a medication used for type 2 diabetes and weight loss, may have unexpected side effects such as sarcopenia and age-related loss of muscle mass and strength. A 74-year-old male patient with type 2 diabetes and dyslipidemia presented with progressive fatigue over 2 years. He experienced a significant decline in walking endurance and speed despite the absence of joint pain or other obvious causes. He had a history of ocular myasthenia gravis and localized prostate cancer, both of which were well-managed. Further investigation revealed a weight loss of 8 kg after starting semaglutide treatment for diabetes. Physical examinations revealed reduced muscle bulk and strength. Extensive investigations, including blood tests, imaging, and cardiopulmonary exercise testing, have ruled out other potential causes of fatigue. The patient’s fatigue improved after reducing the semaglutide dose and implementing a tailored exercise program that focused on muscle strengthening. This case highlights the potential contribution of semaglutide to muscle mass loss and subsequent fatigue, particularly among older adults.

Citations

Citations to this article as recorded by  
  • Mechanism of Semaglutide in MASLD Treatment: Where Is the Master Key?
    Devaraj Ezhilarasan
    Journal of Gastroenterology and Hepatology.2025; 40(9): 2163.     CrossRef
  • A Multidisciplinary Perspective on Semaglutide Treatment and Medical Nutrition Therapy in Obesity Management
    Luigi Barrea, Giuseppe Annunziata, Ludovica Verde, Martina Galasso, Silvia Savastano, Annamaria Colao, Giovanna Muscogiuri
    Current Obesity Reports.2025;[Epub]     CrossRef
  • 5,033 View
  • 181 Download
  • 3 Web of Science
  • 2 Crossref
Chiari malformation type I with extensive syringomyelia presenting as progressive bilateral foot drop: a case report
Siti Anisah Jamaludin, Suraya Abdul-Razak, Shalini Bhaskar, Mimi Nashra, Nik Munirah Nik Mohd Nasir, Nordini Asri
Korean J Fam Med 2025;46(5):369-372.   Published online April 11, 2025
DOI: https://doi.org/10.4082/kjfm.25.0020
Chiari malformation type I (CMI) is a structural abnormality characterized by cerebellar tonsil herniation through the foramen magnum, often leading to disrupted cerebrospinal fluid dynamics and syringomyelia. While CMI commonly presents with occipital headaches and neck pain, atypical manifestations, such as bilateral foot drops, are exceedingly rare. We describe a 37-year-old female patient presenting with bilateral foot drop, which was later established to be caused by syringomyelia secondary to CMI. Magnetic resonance imaging revealed an 8 mm tonsillar descent and a syrinx extending to the conus medullaris. The patient refused surgical intervention and opted for conservative management; partial functional recovery was subsequently observed. This report emphasizes the importance of recognizing rare neurological presentations of CMI. To our knowledge, this is the first documented case of CMI with syringomyelia presenting as a bilateral foot drop.
  • 1,733 View
  • 55 Download
Quetiapine-induced hypokalemic periodic paralysis in a pregnant woman: a case report
Muhammad Hafiz Mohamed Pauzi, Azidah Abdul Kadir, Syaheedatul Iman Dinsuhaimi, Zainab Mat Yudin, Wan Nazirah Wan Yusuf
Korean J Fam Med 2025;46(2):115-119.   Published online March 19, 2025
DOI: https://doi.org/10.4082/kjfm.24.0301
Quetiapine-induced hypokalemic periodic paralysis (QIHPP) is a rare condition. Herein, we present the case of a 31-year-old pregnant Malay woman diagnosed with bipolar II disorder and QIHPP. She presented to the casualty department with a 2-day history of bilateral lower limb weakness and numbness. Her renal function tests showed moderate hypokalemia (2.5 mmol/L), whereas other investigations were normal. Quetiapine was suspected to be the cause, prompting a psychiatric referral to manage her acute condition. Balancing the risks of untreated QIHPP against the potential relapse of bipolar symptoms from quetiapine discontinuation or dosage reduction poses a significant treatment challenge for pregnant women with QIHPP. Finally, we reduced the quetiapine dosage after careful consideration, leading to the normalization of potassium levels and symptom resolution. Therefore, clinicians should be aware of this side effect when initiating or continuing quetiapine treatment in women of childbearing age or pregnant women with psychiatric disorders. It is crucial to monitor serum electrolytes, especially potassium, following quetiapine administration and warn patients about its potential side effects.
  • 2,075 View
  • 94 Download
Fasting is not always good: perioperative fasting leads to pronounced ketone body production in patients treated with SGLT2 inhibitors: a case report
Jae Chan Choi, Yo Nam Jang, Jong Hoon Lee, Sang Wook Park, Jeong A Park, Hye Sook Kim, Jae Won Choi, Joo Hyung Lee, Yong Jae Lee
Korean J Fam Med 2025;46(3):204-209.   Published online March 7, 2025
DOI: https://doi.org/10.4082/kjfm.24.0210
Ketone bodies produced by sodium-glucose cotransporter 2 (SGLT2) inhibitors can be advantageous, providing an efficient and stable energy source for the brain and muscles. However, in patients with diabetes, ketogenesis induced by SGLT2 inhibitors may be harmful, potentially resulting in severe diabetic ketoacidosis (DKA). During fasting, ketone body production serves as an alternative and efficient energy source for the brain by utilizing stored fat, promoting mental clarity, and reducing dependence on glucose. The concurrent use of SGLT2 inhibitors during perioperative fasting may further elevate the risk of euglycemic DKA. We describe a case of DKA that occurred during perioperative fasting in a patient receiving empagliflozin, an SGLT2 inhibitor. This case underscores the importance of recognizing the potential risk of DKA in patients with diabetes using SGLT2 inhibitors during perioperative fasting.
  • 7,088 View
  • 102 Download
Hemicrania continua with rhinosinusitis: a case report
Dae Hyun Kim, Yoonseo Lee
Korean J Fam Med 2025;46(1):48-51.   Published online January 20, 2025
DOI: https://doi.org/10.4082/kjfm.24.0178
Hemicrania continua (HC) is an indomethacin-responsive headache, characterized by unilateral and continuous headaches with cranial autonomic symptoms. Various pathologies, including sinus-related conditions, are associated with HC. Here, we report the case of a 62-year-old man with HC and rhinosinusitis. The patient complained of a unilateral continuous headache with ipsilateral cranial autonomic symptoms, conjunctival injection, and eyelid edema for 20 months. HC was identified as a potential diagnosis based on the symptom criteria, and a response to indomethacin confirmed the diagnosis. Trigeminal autonomic cephalalgia should be considered in patients with unilateral headaches and cranial autonomic symptoms.
  • 2,494 View
  • 65 Download
A Rare Presentation of Probable Training-Related Chronic Myopericarditis in an Endurance Cyclist: A Case Report
Azwan Aziz Mohamad, Nahar Azmi Mohamed
Korean J Fam Med 2024;45(2):116-120.   Published online February 14, 2024
DOI: https://doi.org/10.4082/kjfm.23.0082
We report a rare case of high-volume training-related myopericarditis. A male, 18 years old, elite road bicycle racing cyclist with high-volume training of 1,000 km per week for >7 years, presented with progressively worsening exertional breathlessness, reduced effort tolerance, and one episode of cardiac syncope. The symptoms were present prior to the coronavirus disease 2019 pandemic but made worse with the sudden increase in the volume of training after lockdown periods in preparation for competition. He exhibited multiple premature ventricular ectopic beats during his resting electrocardiogram, with a normal echocardiogram and non-elevated cardiac enzyme. The exercise stress test revealed similar multiple premature ventricular beats, warranting further investigation using cardiac magnetic resonance imaging (MRI). The findings of the cardiac MRI were suggestive of myopericarditis. He was instructed to refrain from training and initially started with a short course of colchicine. However, his symptoms deteriorated, and cardiac MRI revealed a decrease in the left ventricular ejection fraction from 59% to 50%. His treatment was escalated to a short course of tapered dose steroid, anti-failure medication and gradual, supervised, return to sports program. This case report highlights the discussion of return to play in athletes with myopericarditis.
  • 4,320 View
  • 80 Download
We report the first case of hypoglycemia and lactic acidosis caused by the therapeutic doses of venlafaxine. A 19-year-old female patient had presyncope and she was taking venlafaxine 75 mg once a day because of major depression for a week and she had no history of any other drug use or disease. The blood gas analysis revealed hypoglycemia and lactic acidosis. Patient was treated with dextrose infusion and oral diet. Although hypoglycemia and lactic acidosis have been reported in overdose of venlafaxine in the literature, these effects were observed in therapeutic doses.

Citations

Citations to this article as recorded by  
  • Venlafaxine-induced serotonin syndrome causing bilateral cerebral strokes: a case report
    Nils Mein, Khadija Mammadli, Felix Luessi, Timo Uphaus
    Frontiers in Stroke.2025;[Epub]     CrossRef
  • Seizure, Rhabdomyolysis, and Hypoglycemia in a Patient With Venlafaxine Poisoning
    Akif Yarkaç, Çağri Safa Buyurgan, Ataman Köse, Seyran Bozkurt Babuş
    Journal of Clinical Psychopharmacology.2023; 43(6): 546.     CrossRef
  • Dose-related hypoglycemia in venlafaxine poisoning: a retrospective cohort study
    Elias Bekka, Florian Eyer
    Clinical Toxicology.2022; 60(12): 1336.     CrossRef
  • Venlafaxine

    Reactions Weekly.2021; 1885(1): 501.     CrossRef
  • 5,873 View
  • 132 Download
  • 4 Web of Science
  • 4 Crossref
A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome
Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Mehmet Alikaşifoğlu, Koray Boduroğlu
Korean J Fam Med 2017;38(2):102-105.   Published online March 22, 2017
DOI: https://doi.org/10.4082/kjfm.2017.38.2.102

Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.

Citations

Citations to this article as recorded by  
  • Williams–Beuren syndrome: a complete guide for oral healthcare
    Pavan Manohar Patil, Seema Pavan Patil
    Journal of Oral Medicine and Oral Surgery.2021; 27(2): 21.     CrossRef
  • 5,752 View
  • 24 Download
  • 1 Crossref
Escitalopram-Induced Amenorrhea and False Positive Urine Pregnancy Test
Vithyalakshmi Selvaraj, Siv Hour, Palanikumar Gunasekar, Caron Gray, James F. Smith
Korean J Fam Med 2017;38(1):40-42.   Published online January 18, 2017
DOI: https://doi.org/10.4082/kjfm.2017.38.1.40

Escitalopram is a selective serotonin reuptake inhibitor antidepressant approved by the Food and Drug Administration for the treatment of major depressive disorder and generalized anxiety disorder. A 34-year-old female patient with major depressive disorder developed amenorrhea and had a false-positive urine pregnancy test after initiation of escitalopram treatment. To our knowledge, no published case report of amenorrhea and false-positive urine pregnancy tests in women taking escitalopram exists. This case report suggests that women of child-bearing age should be carefully monitored for amenorrhea while they are on an antidepressant treatment regimen.

Citations

Citations to this article as recorded by  
  • False-positive urine pregnancy screening tests are uncommon in the hospital setting among patients with bowel-containing urinary tract reconstruction
    Alyssia Venna, Marie-Therese Valovska, Carlos R. Estrada, Joseph G. Borer, Caleb P. Nelson
    Journal of Pediatric Urology.2023; 19(3): 312.e1.     CrossRef
  • Vortioxetine-Induced Amenorrhea: A Case Report
    Mesut Işik, Faruk Kurhan, Tuba Ülkevan, Pinar Güzel Özdemir
    Clinical Neuropharmacology.2022; 45(1): 7.     CrossRef
  • 8,633 View
  • 67 Download
  • 4 Web of Science
  • 2 Crossref
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