International Medical Case Reports Journal最新文献

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.

Background: Foodborne botulism is a life-threatening illness caused by neurotoxins produced by Clostridium botulinum. Although dairy-related cases are rare, they remain a public health concern, especially in regions where traditional food preparation methods are common.

Case presentation: This case series describes botulism in three family members-including a pregnant woman-following the consumption of homemade dairy products. All presented with varying degrees of neurological and respiratory symptoms. Two required intubation and intensive care. Laboratory findings confirmed neurotoxin type A in stool and gastric samples. Early administration of a horse-derived trivalent botulinum antitoxin and supportive care resulted in recovery.

Conclusion: Prompt recognition and treatment are essential for favorable outcomes. This case series underscores the exceptionally rare occurrence of foodborne botulism linked to homemade dairy products, highlighting the clinical and public health significance of early diagnosis and preventive measures.

Purpose: To describe two corneal adverse events temporally associated with anti-tumor necrosis factor-α (TNF-α) therapy-one with severe fibrovascular pannus and another with epithelial keratopathy without pannus.

Methods: Two patients on anti-TNF-α agents underwent comprehensive ocular examinations. Management included modification or discontinuation of biologics as clinically indicated and intensified topical therapy.

Results: Case 1 (pustular psoriasis on adalimumab) developed bilateral fibrovascular pannus with stromal changes. Ocular findings did not improve immediately after adalimumab discontinuation but gradually improved following macrolide, topical corticosteroid, and immunomodulatory therapy. Case 2 (Crohn's disease on adalimumab then golimumab) presented with superior corneal haze and diffuse superficial punctate keratopathy without pannus and resolved with topical therapy alone.

Conclusion: These cases raise the possibility that corneal adverse events-including severe pannus-may occur during anti-TNF-α therapy. Given the heterogeneity and potential confounders, causality cannot be established. Ophthalmic vigilance and further studies are warranted.

Giant basal cell carcinoma (GBCC) is a rare and clinically aggressive subtype of BCC. We report an unusual case of a 71-year-old male with a 30-year history of a slowly enlarging tumor on the extensor surface of his left upper arm. The lesion presented as a giant, irregular ulceration measuring 12×10 cm with coalescing verrucous borders. Histopathological examination confirmed the diagnosis, revealing characteristic nests of basaloid cells with peripheral palisading and stromal retraction artifact in the dermis. Immunohistochemical staining was positive for Ber-EP4, CK15, Ki-67, Bcl-2. The patient was diagnosed with GBCC with Ulcer. Staging workup with computed tomography (CT) of the left humerus and axillary lymph node ultrasonography showed no evidence of metastasis. The patient was successfully treated with slow Mohs micrographic surgery. Subsequent histopathological assessment of the excised specimen confirmed tumor-free margins. At 12-month follow-up, no local recurrence was observed. This case highlights the importance of recognizing GBCC in uncommon locations and demonstrates the efficacy of slow Mohs technique for achieving complete excision in large, complex tumors.

Alternating hemiplegia of childhood (AHC) is a rare neurological disorder characterized by recurrent episodes of hemiplegia and dystonia, significantly affecting patients' quality of life. This exploratory study evaluated the effects of the Muscular Acoustic Modulator (MAM) on a single patient with AHC treated for one year. The treatment was associated with a notable reduction in the frequency and duration of hemiplegic and dystonic episodes, with partial and total hemiplegic episodes decreasing by 52% and 85%, respectively, and partial dystonic episodes decreasing by 81%. Additionally, improvements in behavioural symptoms such as anger and strength outbursts were observed. We hypothesize that MAM treatment could modulate cerebrospinal fluid dynamics and enhance glymphatic drainage, potentially offering a new therapeutic approach for AHC and other neurodegenerative diseases. However, the study's limitations, including the single-patient design, necessitate further research to confirm these preliminary results and elucidate the underlying mechanisms.