International Medical Case Reports Journal最新文献

Subconjunctival hemorrhage (SCH) is a rare complication in spinal surgery and is even more uncommon in endoscopic procedures, which are typically of short duration. We report the case of a 32-year-old male who developed bilateral SCH after an uneventful L4-L5 lumbar endoscopic discectomy performed under general anesthesia. The patient had a history of well-controlled hypertension and was not on anticoagulant therapy. The surgery lasted approximately 50 minutes, with appropriate head protection and smooth airway management. On the first postoperative day, bilateral SCH was observed without pain or visual disturbance. The hemorrhages resolved spontaneously within two weeks without complications. Although the exact mechanism remains unclear, contributing factors may include prone positioning, venous congestion, hemodynamic shifts, and hypertension-related vascular fragility. This case highlights the importance of recognizing subconjunctival hemorrhage as a rare but benign complication of prone spinal surgery, and suggests that patient reassurance and awareness are essential.

Introduction: Encephalomalacia is the loss of brain tissue caused by an insult to the cerebral matter. Encephalomalacia is not frequently described in literature, with most focusing on infants and children, and rarely on the adult population. When described in the adult population, encephalomalacia is most commonly described following a cerebrovascular event. Reports of trauma-induced encephalomalacia in adults are uncommon, making such cases clinically significant. Despite some identified etiology in infants and children, our understanding of adult risk factors besides a cerebrovascular event remains limited. The following report describes a case of encephalomalacia in a young adult resulting from an atypical predisposing etiology.

Case presentation: Our case is of a twenty-eight-year-old male who presented with non-specific and abrupt symptoms of chest tightness, dyspnea, and aphasia after an apparent episode of alcohol intoxication. Further investigations and pertinent history-taking revealed a chronic history of similar symptoms traced back to a severe head trauma five years prior. The symptoms were ultimately attributed to left temporal lobe encephalomalacia, as evidenced by neuroimaging with CT and MRI. The patient received symptomatic treatment for possible alcohol withdrawal and was hospitalized until his symptoms improved. He was then discharged for continued outpatient follow-up care.

Conclusion: This case report aims to identify the unknown cause of neurobehavioral deficits in adults and highlight physical trauma as the probable etiology of encephalomalacia in such patients. It underscores the potential for early identification through neuroimaging and appropriate symptomatic management, offering hope for mitigating the impact on the patient's quality of life.

Background: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is characterized by vascular and skeletal abnormalities. LDS, classified into six subtypes (LDS1-6), is caused by mutations in the genes encoding proteins involved in the transforming growth factor-beta (TGF-β) signaling pathway. LDS4 is the mild form of the LDS spectrum, considering that aneurysms are observed in the fourth decade and the disease progression is slower than the other forms.

Case presentation: We reported the case of a novel TGFB2 variant c.280_298del p.(Ser94Profs*7), NM_001135599.2 responsible of LDS4 in a family with sudden death and vascular lesions.

Conclusion: The pedigree analysis highlighted the high clinical variability of LDS signs even within the same family. In addition, TGFB2 mutations which do not always lead to vascular phenotype and skeletal signs can be prevalent. We emphasize the relevance of genetic counseling and molecular analysis to identify genetic diseases subtending sudden deaths and to distinguishing heritable connective tissue disorders with phenotypic overlap. Genetic testing can be used to guide clinical management and provide valuable prognostic information.

Ileo-sigmoid knotting (ISK) is a rare and potentially life-threatening condition that results in a double-loop intestinal obstruction involving the ileum and sigmoid colon. This case report delineates the clinical presentation of a female patient aged 38 years, who exhibited significant abdominal discomfort and distension, recurrent attacks of vomiting, and absolute constipation. Clinical and radiologic findings suggested bowel obstruction with signs of volvulus. Exploratory laparotomy confirmed type 1A ISK with gangrene of the distal ileum and a redundant sigmoid colon. Surgical intervention included resection terminal ileum with ileocecal anastomosis and sigmoidectomy and colorectal anastomosis. The patient recovered without complications. Timely identification of medical conditions and immediate implementation of surgical interventions are vital to a favorable prognosis.

The coronavirus disease of 2019 (COVID-19) has pushed the world into a pandemic and global terrorism. As many people have acquired the virus and become ill, many phenomena and systemic manifestations of the disease have raised questions regarding its mechanism and long-term effects. Many studies have been conducted to understand the pathophysiology of coronavirus. Here, we describe the case of a 66 year old Saudi male who experienced pneumonia secondary to severe COVID-19 with subsequent loss of a kidney graft. In addition, we discuss the potential mechanisms underlying COVID-associated coagulopathy.

SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare autoinflammatory disorder characterized by osteoarticular symptoms and dermatological lesions. This case series aims to enhance clinical recognition and reduce misdiagnosis by presenting three patients initially misdiagnosed with spinal infection at external hospitals. All cases presented with worsening back pain and recurrent palmoplantar pustulosis (PPP), one of whom also had comorbid psoriasis. Imaging revealed multifocal purely osteolytic lesions in one patient and mixed osteolytic-osteosclerotic changes in the other two. After exclusion of infectious and neoplastic etiologies, all patients were diagnosed with SAPHO syndrome and showed significant improvement with symptomatic treatment. In conclusion, this case series demonstrated that SAPHO syndrome should be considered in patients with back pain and PPP after excluding infection and tumor.

Asymmetric ankle osteoarthritis, whether congenital or posttraumatic, develops from disruption of the mechanical axis and leads to progressive joint degeneration. Supramalleolar osteotomy (SMO) is a joint-preserving procedure that restores alignment and redistributes joint-loading forces. However, conventional fixation often involves bulky implants or external fixators, resulting in excessive surgical trauma, high metal consumption, and prolonged rehabilitation. The optimal fixation strategy for SMO remains a topic of debate. We present a 54-year-old woman with asymmetric ankle osteoarthritis and a 13-degree varus deformity of the tibia. The patient underwent a minimally invasive SMO stabilized with a customized low-profile titanium mini-plate. Postoperative radiographs confirmed restoration of the mechanical and anatomical tibial axes and correction of the varus deformity. At the 2-month follow-up, functional outcomes improved markedly. The AOFAS ankle-hindfoot score increased from 56 preoperatively to 86 postoperatively, the Visual Analog Scale (VAS) for pain decreased from 7/10 to 2/10, and the Foot and Ankle Disability Index (FADI) improved from 58% to 88%. No complications were observed. This case highlights the potential of a customized low-profile mini-plate to achieve stable fixation with minimal implant use and reduced surgical trauma. The approach allowed early mobilization, symptomatic relief, and functional recovery within a short follow-up period. Although the favorable short-term outcome supports the feasibility of this minimally invasive method, further studies with larger cohorts and longer follow-up are needed to validate its effectiveness and cost-efficiency compared with traditional fixation techniques.

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever, serositis, and systemic inflammation, primarily affecting Mediterranean populations. It is rarely reported in sub-Saharan Africa and remains underdiagnosed due to limited awareness and lack of genetic testing services. We report a 57-year-old Somali woman with a four-year history of recurrent high-grade fever, erysipelas-like erythema, and polyarthralgia. Due to the absence of diagnostic facilities in Somalia, she was referred to Egypt, where genetic testing confirmed an MEFV E148Q mutation. Colchicine and supportive therapy led to clinical improvement and reduced inflammatory markers. This is the first documented case of FMF in Somalia. There is an urgent need to improve physician awareness and expand local diagnostic capacity. In low-income settings like Somalia, where many people live in poverty, seeking medical care abroad is not feasible for most. Failure to address these gaps risks avoidable suffering, life-threatening complications, and worsening health inequities.

Hereditary pyropoikilocytosis is an inherited, rare form of severe hemolytic anemia that is associated with a disordered erythrocyte membrane. Such a disordered membrane is due to the quantitative and qualitative α-spectrin defects that associate with homozygous or doubly heterozygous mutations in the SPTA1 gene. Characterized by marked poikilocytosis, anisocytosis, and thermal sensitivity of erythrocytes, often leading to severe hemolytic anemia and neonatal jaundice. We report the case of a full-term newborn admitted in the first day of life to the neonatal intensive care unit with significant jaundice and anemia. Peripheral blood smear revealed severe anemia with pronounced anisopoikilocytosis and moderate elliptocytosis, suggestive of a hereditary RBC membrane disorder. The whole exome sequencing (WES) did identify a SPTA1 gene homozygous likely pathogenic missense variant, p. (Leu260Pro) confirming the diagnosis of hereditary pyropoikilocytosis. The patient received intensive phototherapy and a red blood cell transfusion during hospitalization. Over an 18-month follow-up period, the infant remained clinically stable with no further transfusion requirements. However, the features consistent with HPP tended to be persistent during the follow‑up, highlighting the chronic nature of the disorder in this case. Furthermore, it underscores the importance of considering rare hereditary causes of hemolytic anemia in neonates presenting with early-onset jaundice and anemia. It highlights the diagnostic value of genetic testing in confirming SPTA1-related disorders.

Introduction: We report a case of chronic lymphocytic leukemia associated immune thrombocytopenia (CLL-associated ITP) with suboptimal response to steroid responding to second line agent.

Case presentation: A 68-year-old female patient known to have diabetes mellitus and chronic lymphocytic leukemia (CLL) presented with spontaneous bruising on her body and around her right eye. Initial laboratory investigations reveal hemoglobin level of 10.6 g/dL, platelet count of 11 × 10⁹/L, white blood cell count of 50.0 × 10⁹/L with negative direct and indirect Coombs tests were negative. The patient has a suboptimal response and rapid platelet declines once prednisone is tapered off. Consequently, Eltrombopag was introduced at a daily dosage of 50 mg, resulting in a rapid and sustained response over two years, reaching a platelet count of 282 × 10⁹/L without requiring rescue treatment. Notably, steroids were tapered within the first three weeks of Eltrombopag administration, and aspirin was resumed once the platelet count reached 50 × 10⁹/L.

Conclusion: Eltrombopag represents an effective and safe treatment alternative for patients with CLL-associated ITP, particularly those diagnosed with diabetes mellitus. However, the potential risks of iron deficiency and Eltrombopag's food interactions prior to initiating therapy, during dose escalations, or when transitioning to alternative treatments are important considerations. Future studies with large number sample size along with identification of cytogenetic and molecular abnormalities are required to identify patient populations that may respond favorably to Eltrombopag without necessitating rescue therapies, chemotherapy, immunotherapy or CLL directed therapy.