Global Journal of Medical Case Reports

Heterotaxy syndrome comprises a group of congenital anomalies resulting from disrupted left-right axis patterning during embryonic development, leading to an abnormal arrangement of the thoracic and abdominal organs [1]. It is a rare condition, with an estimated prevalence of approximately 1 per 10,000 live births, and is frequently associated with complex congenital heart defects, making it a life-threatening disorder with... Heterotaxy syndrome comprises a group of congenital anomalies resulting from disrupted left-right axis patterning during embryonic development, leading to an abnormal arrangement of the thoracic and abdominal organs [1]. It is a rare condition, with an estimated prevalence of approximately 1 per 10,000 live births, and is frequently associated with complex congenital heart defects, making it a life-threatening disorder with significant morbidity and mortality [1]. Clinically, heterotaxy syndrome is classified into right atrial isomerism (Ivemark syndrome) and left atrial isomerism. Ivemark syndrome represents the most severe form and is primarily characterized by asplenia, complex cardiovascular anomalies, and abnormal positioning of the thoracoabdominal organs [2]. In this condition, paired organs exhibit right-sided morphology bilaterally, commonly accompanied by functionally univentricular physiology, extensive septal defects, dextrocardia, and extracardiac malformations such as intestinal malrotation and congenital absence of the spleen [2,3]. Asplenia is a hallmark feature that markedly increases susceptibility to overwhelming bacterial infections, while the associated congenital heart defects account for the high morbidity and mortality observed during the neonatal period [2]. Herein, we report the case of a male neonate with clinical and imaging findings consistent with Ivemark syndrome who experienced a rapidly progressive and fatal clinical course during the first week of life. A comprehensive review of the available literature identified only a limited number of published cases and scarce documented evidence. Therefore, this case report is supported primarily by the currently available international literature. Read more

Objectives: To evaluate the potential role of hysteroscopic subendometrial autologous platelet-rich plasma application in a patient with refractory thin endometrium after multiple high-quality embryo transfers. Methods: We report the case of a 45-year-old female with a 9-year history of infertility, 15 previous IVF cycles, 8 frozen embryo transfers with a persistently thin endometrium of Results: In the subsequent cycle, endometrial... Objectives: To evaluate the potential role of hysteroscopic subendometrial autologous platelet-rich plasma application in a patient with refractory thin endometrium after multiple high-quality embryo transfers. Methods: We report the case of a 45-year-old female with a 9-year history of infertility, 15 previous IVF cycles, 8 frozen embryo transfers with a persistently thin endometrium of <7mm. After the exclusion of intrauterine pathology via diagnostic hysteroscopy, leukocyte-poor PRP was activated with calcium gluconate and injected into the subendometrial region. A comparison of endometrial thickness, as well as uterine and subendometrial arterial blood flow before and after PRP application was made. Results: In the subsequent cycle, endometrial thickness increased to 8.2 mm, Doppler vascular parameters improved, and a euploid frozen embryo transfer resulted in a clinical pregnancy and live birth. This case supports further investigation of hysteroscopic subendometrial PRP in selected patients. Conclusion: The regenerative characteristics of PRP in optimizing blood flow should be considered crucial to improving the microcirculation of the endometrial basal layer and subsequent tissue remodeling. Read more

Roseomonas mucosa is a slow-growing, pink-pigmented, Gram-negative coccobacillus historically considered an opportunistic pathogen in severely immunocompromised oncology patients. However, recent genomic and clinical data demonstrate its primary reservoir is the human skin microbiome, facilitating an evolving epidemiology. We report a case of R. mucosa bacteremia in a 69-year-old woman with short bowel syndrome (SBS) and total parenteral nutrition (TPN) dependence.... Roseomonas mucosa is a slow-growing, pink-pigmented, Gram-negative coccobacillus historically considered an opportunistic pathogen in severely immunocompromised oncology patients. However, recent genomic and clinical data demonstrate its primary reservoir is the human skin microbiome, facilitating an evolving epidemiology. We report a case of R. mucosa bacteremia in a 69-year-old woman with short bowel syndrome (SBS) and total parenteral nutrition (TPN) dependence. This case supports an emerging pattern: R. mucosa is increasingly identified in "device-compromised" hosts. Furthermore, this pathogen may present without elevated host-response biomarkers and exhibits intrinsic resistance to empiric broad-spectrum beta-lactams, complicating early management. Read more

Background: Morris syndrome, also known as androgen insensitivity syndrome (AIS), is a disorder of sex development caused by mutations in the androgen receptor gene in individuals with a 46,XY karyotype. The syndrome is typically diagnosed during adolescence due to primary amenorrhea, and early detection in childhood is uncommon. Prompt recognition is clinically important to guide multidisciplinary management and reduce the... Background: Morris syndrome, also known as androgen insensitivity syndrome (AIS), is a disorder of sex development caused by mutations in the androgen receptor gene in individuals with a 46,XY karyotype. The syndrome is typically diagnosed during adolescence due to primary amenorrhea, and early detection in childhood is uncommon. Prompt recognition is clinically important to guide multidisciplinary management and reduce the risk of gonadal malignancy. Case Description: We report the case of a one-year-old phenotypic female presenting with an irreducible, painful right inguinal hernia. Ultrasound suggested bilateral inguinal hernias containing ovary-like structures. During emergency surgical exploration, bilateral testes were unexpectedly identified within the inguinal canals. The testes were reduced into the abdominal cavity, and herniotomy with anterior wall repair was performed bilaterally. External genital examination revealed normally developed labia but absence of the hymenal ring and vaginal opening. The postoperative course was uneventful. Despite referral for karyotype analysis and multidisciplinary follow-up, the parents did not return for further evaluation. Conclusion: This case highlights the rare intraoperative diagnosis of Morris syndrome in early childhood. Awareness of AIS is essential for pediatric surgeons managing inguinal hernias in phenotypic females. Early detection allows timely planning of gonadectomy and long-term multidisciplinary management, minimizing the risk of malignant transformation of undescended testes and optimizing patient outcomes. Read more

A man in his 60s with multiple vascular comorbidities presented with sudden, painless vision loss in one eye. Although he had a high risk for atherosclerotic events, initial evaluation for stroke was negative for acute ischemia, but found to have markedly elevated inflammatory markers. Accordingly, giant cell arteritis was investigated and Ophthalmologic findings and fulfillment of the 2022 American College... A man in his 60s with multiple vascular comorbidities presented with sudden, painless vision loss in one eye. Although he had a high risk for atherosclerotic events, initial evaluation for stroke was negative for acute ischemia, but found to have markedly elevated inflammatory markers. Accordingly, giant cell arteritis was investigated and Ophthalmologic findings and fulfillment of the 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology classification criteria supported the diagnosis of giant cell arteritis, despite a negative temporal artery biopsy. Management included high-dose glucocorticoids and delayed tocilizumab initiation due to the need for multiple vascular surgeries. Vision loss was irreversible, but systemic symptoms resolved and vascular interventions were successful. This case highlights the diagnostic and management complexities of biopsy-negative giant cell arteritis in patients with severe atherosclerotic vascular disease, emphasizing the importance of clinical judgment and established classification criteria when imaging and biopsy results are inconclusive. Read more

Lemierre’s syndrome (LS) is a rare clinical condition characterized by septic thrombophlebitis of the internal or external jugular vein, usually following an oropharyngeal infection. Here, we present a 20-year-old male patient who developed diarrhea, nausea, and vomiting after receiving clarithromycin for an upper respiratory tract infection. On admission, he had fever, hypotension, and elevation in acute phase reactants (WBC: 20,410/µL,... Lemierre’s syndrome (LS) is a rare clinical condition characterized by septic thrombophlebitis of the internal or external jugular vein, usually following an oropharyngeal infection. Here, we present a 20-year-old male patient who developed diarrhea, nausea, and vomiting after receiving clarithromycin for an upper respiratory tract infection. On admission, he had fever, hypotension, and elevation in acute phase reactants (WBC: 20,410/µL, CRP: 197 mg/L). Empirical treatment with ceftriaxone and metronidazole was initiated. Stool and throat cultures were negative. On the second day, abdominal tenderness developed; direct abdominal radiograph showed dilated bowel loops, but toxic megacolon was excluded during follow-up. Thoracic CT revealed septic emboli in the lungs. Due to persistent fever despite ceftriaxone and metronidazole therapy, treatment was escalated to meropenem on the fifth day. On the same day, blood cultures grew Fusobacterium necrophorum, raising suspicion of LS. Doppler ultrasound detected a thrombus in the left external jugular vein. Anticoagulant therapy with low-molecular-weight heparin and clopidogrel was initiated. The fever resolved by the seventh day of full antibiotherapy After three weeks of intravenous therapy, follow-up imaging showed regression of the thrombus. The patient completed a four-week course of antibiotics and anticoagulants and was discharged with full recovery. This case highlights the diagnostic challenge of LS presenting with gastrointestinal symptoms and emphasizes the importance of early blood cultures and imaging. External jugular vein involvement due to F. necrophorum is rare and should be considered in patients presenting with septic emboli. Read more