ASIDE Case Reports
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Multimodal Conservative Management of Nulliparous Female with Cervical Ectopic Pregnancy: A Case Report
Get PDFCervical ectopic pregnancy is an extremely rare condition with catastrophic sequelae if timely, appropriate management is not performed. Some risk factors predispose patients to this condition, but in our case, no predisposing risk factors were present. Nulliparity and young age are the most challenging points for fertility conservation, and multimodal conservative management is a highly successful option for appropriately selected patients.
A 22-year-old nulliparous patient presented to our tertiary university hospital for a viable 8-week cervical ectopic pregnancy after failure of treatment with two doses of methotrexate. Confirmation of the diagnosis was achieved, and our team selected a multimodal conservative management approach. During admission, severe bleeding was recognized early on, and the patient was successfully handled with satisfactory fertility preservation outcomes.
Fertility preservation is the most challenging point when dealing with cervical ectopic pregnancy, especially in young nulliparous women. However, the best way to manage cervical ectopic pregnancy has not yet been confirmed, and multimodal conservative management can be an effective method
Hybrid Schwannoma of the Nasal Cavity: A Rare Case Report with Literature Review
Get PDFSinonasal schwannomas are extremely rare, comprising only 4% of all head and neck schwannomas. Their atypical location and nonspecific symptoms often result in delayed diagnosis. This case highlights a rare hybrid schwannoma in the right nasal cavity of a young female, contributing to the limited literature on sinonasal nerve sheath tumors. A 27-year-old female presented with a one-year history of right-sided nasal obstruction, rhinorrhea, and recurrent epistaxis. Examination revealed a polypoidal mass in the right nasal cavity. Laboratory investigations showed mild anemia and an elevated white cell count. Imaging identified a soft tissue mass with no bone erosion or intracranial involvement. The patient underwent Functional Endoscopic Sinus Surgery (FESS), and histopathological analysis confirmed a hybrid nerve sheath tumor (70% schwannoma, 30% neurofibroma) with positive staining for S-100 and CD34. Postoperative MRI showed no residual or recurrent mass. This case underlines the importance of considering rare neural tumors in the differential diagnosis of nasal masses. Early surgical intervention with histological confirmation ensures favorable outcomes and prevents complications associated with delayed treatment
Bone Marrow Necrosis in A Male Patient with Anti-Phospholipid Syndrome: A Case Report with Literature Review
Get PDFAnti-phospholipid syndrome (APS) is a systemic autoimmune disease causing arterial and venous thrombosis, leading to macrovascular and microvascular complications. Bone marrow necrosis (BMN) is defined as the death of hematopoietic tissue and the loss of fat cells in a bone marrow biopsy. BMN is typically associated with a poor prognosis, with most patients dying within weeks. We present a case of BMN in a 32-year-old male patient with APS admitted to our hospital. The patient presented with bilateral non-healing leg ulcers and bilateral lower limb edema. The findings of the duplex ultrasound were consistent with old bilateral deep vein thromboses in the calves. The presence of acute kidney injury and proteinuria prompted a renal biopsy, which revealed chronic thrombotic microangiopathy. Bone marrow biopsy revealed BMN. Unfortunately, the patient did not respond to immunosuppressive treatment and passed away due to septic shock. The unique features in the patient’s presentation, combined with the availability of extensive data on the patient’s history and investigations, further enhance its significance. It is not possible to establish a cause-and-effect relationship or draw conclusive findings from this case report alone. More case reports from clinicians who come across BMN in patients with APS are needed to broaden our understanding of the pathogenesis, presentation, management, and outcomes
Rare Presentation of Werner Syndrome in a 28-Year-Old Female Patient: A Case Report and Literature Review
Get PDFWerner Syndrome (WS) is a rare autosomal recessive disorder characterized by accelerated aging and a broad spectrum of clinical manifestations. This case report presents a unique instance of WS from Pakistan, featuring a novel mutation in the WRN gene. Known as progeria adultorum, WS typically manifests post-pubertally due to mutations in the WRN gene, which plays a key role in DNA repair and genomic maintenance.
A 28-year-old woman presented with non-healing bilateral leg ulcers, dry skin, and photopsia. She exhibited multiple signs of premature aging, including short stature, early hair graying, and bilateral cataracts. Her medical history included hypothyroidism, cataract surgery, and recurrent gastrointestinal infections. Genetic testing confirmed a homozygous pathogenic variant in the WRN gene, thereby establishing the diagnosis of WS.
This case highlights the diagnostic challenges associated with rare genetic syndromes. The patient\u27s diverse clinical signs—such as persistent ulcers, cataracts, and failure to experience a pubertal growth spurt—were consistent with diagnostic criteria for WS. The report explores the pathophysiology of WS, particularly the role of WRN mutations in impaired DNA repair and increased genomic instability, which significantly elevates cancer risk.
There is currently no specific treatment for WS; management remains supportive, focusing mainly on symptomatic relief. This case emphasizes the importance of early recognition, targeted genetic testing, and multidisciplinary care. Greater awareness and understanding of WS are essential for timely diagnosis and intervention. Furthermore, ongoing genetic research may offer valuable insights into disease mechanisms and potential therapeutic strategies, ultimately aiming to improve patient outcomes
Rare Case of Disseminated Nocardiosis with Simultaneous Lung, Brain, and Spinal Cord Involvement in a Patient with Sarcoidosis
Get PDFNocardiosis is an uncommon opportunistic infection commonly affecting the lungs in immunocompromised individuals. We present an unusual case of disseminated nocardiosis involving the spinal cord and brain in a patient previously diagnosed with sarcoidosis and treated with glucocorticoids. We are presenting the case of a 46-year-old Caucasian male with sarcoidosis who develops pulmonary nocardiosis, with chest X-ray (CXR) revealing left lower lobe infiltrates diagnosed as community-acquired pneumonia usually caused by Nocardia, confirmed by excisional biopsy. A few days later, the disease progressed to the spinal cord, leading to an epidural abscess, and disseminated to the brain, leading to multiple ring-enhancing lesions confirmed by MR. Timely surgical intervention, such as abscess drainage, is crucial in the management of abscesses to prevent life-threatening complications and preserve neurological function. Clinicians should maintain a broad differential diagnosis when evaluating new pulmonary infiltrates in patients with sarcoidosis. Early CNS imaging should be considered in cases of severe pulmonary nocardiosis to prevent catastrophic complications
Epiploic Appendagitis Following Blunt Abdominal Trauma: A Case Report with Literature Review
Get PDFEpiploic appendagitis (EA) is a rare and self-limiting cause of acute abdominal pain resulting from ischemia due to torsion or venous thrombosis of epiploic appendages. It often mimics more common conditions, such as diverticulitis or appendicitis, leading to misdiagnosis and unnecessary interventions. While EA is typically idiopathic, we present a unique case of trauma-induced EA in a 58-year-old man who developed sharp left lower quadrant pain after prolonged abdominal pressure while repairing a boat engine managed conservatively, which, to our knowledge, has not been previously reported. With the increasing availability of computed tomography (CT), EA is being diagnosed more frequently, yet clear management guidelines remain lacking
Volvulus of Left Descending Colon: A Case Report and Systematic Review
Get PDFColonic volvulus has been described as the third most common cause of intestinal obstruction worldwide, with sigmoid volvulus representing more than 70% of all colonic volvulus. The descending colon is an atypical location for volvulus, with only a few documented cases in the literature. We report a case of non-viable left descending colon volvulus managed with left hemicolectomy in a 64-year-old male with no previous history of colorectal surgery. In addition, we conducted a systemic review of the literature for case reports of descending colon volvulus. We searched PubMed, Scopus, and Web of Science until November 2024 using the following search terms: (Volvulus AND “descending colon”). We extracted and summarized relevant data to better understand our case, and how it compares to previously documented reports. Our search yielded seven case reports that met our inclusion criteria. Our population consisted of four males and three females, with a mean age of 49.5 years and a range of (15 to 86) years. Most of our population was over the age of 30 (5/7). The most reported symptoms were abdominal distension, colicky or cramping abdominal pain, and vomiting. Left-sided colon volvulus is a rare cause of large bowel obstruction with variable and often atypical presentations, posing diagnostic challenges. Future research should investigate anatomical and clinical predictors of volvulus, optimize imaging modalities for early diagnosis, and evaluate long-term outcomes of various surgical approaches
Extrapelvic Endometriosis of the Rectus Abdominis Muscle After Cesarean Section: A Case Report
Get PDFAbdominal wall endometriosis is an uncommon form of extra-pelvic endometriosis that typically develops in association with prior uterine surgery, particularly cesarean delivery. Among its variants, isolated involvement of the rectus abdominis muscle is exceedingly rare and may mimic other postoperative abdominal wall pathologies, resulting in delayed diagnosis.
We report the case of a 28-year-old woman presenting with cyclic pain localized to the right lower abdomen, three years after a cesarean section. Magnetic resonance imaging revealed a 2 × 2 × 1.5 cm lesion within the right rectus abdominis muscle, showing signal characteristics suggestive of endometriosis. The lesion was completely excised through a Pfannenstiel incision with approximately 1 cm of healthy tissue margin, and no mesh reconstruction was required. Histopathological examination confirmed the diagnosis of endometriosis, showing endometrial glands and stroma within skeletal muscle fibers. The postoperative course was uneventful, and the patient remained symptom-free during 12 months of follow-up.
This case emphasizes the need to suspect abdominal wall endometriosis in post-cesarean patients presenting with cyclic pain and a palpable abdominal wall nodule near the surgical scar. Early recognition and complete surgical excision with clear margins are essential to ensure accurate diagnosis and prevent recurrence
Ellis–van Creveld Syndrome with Common Atrium: A Clinically Diagnosed Case Report with Literature Review
Get PDFEllis-van Creveld (EVC) syndrome is a rare, autosomal recessive disorder defined by a classic tetrad of features: chondroectodermal dysplasia causing disproportionate short stature, postaxial polydactyly, ectodermal defects affecting the nails and teeth, and congenital heart disease. The most significant cause of morbidity and mortality is the associated cardiac anomaly, most commonly a large atrial septal defect resulting in a functional common atrium. Early and accurate diagnosis is critical for managing cardiovascular risk and implementing appropriate long-term care.
We report the case of a 12-year-old female from Pakistan, with a weight of 26 kg (BMI 18.8 kg/m²), who presented with a classic EVC phenotype. Clinical examination revealed short-limb dwarfism, bilateral postaxial polydactyly of all four limbs, genu valgum, and ectodermal dysplasia. Her parents were non-consanguineous. Cardiovascular evaluation confirmed a common atrium via echocardiography, with corresponding ECG findings of right axis deviation and an incomplete right bundle branch block. Based on this distinct constellation of clinical and imaging evidence, a clinical diagnosis was made, as molecular genetic testing was not available.
This case confirms the importance of recognizing the distinct clinical phenotype of Ellis-van Creveld syndrome. In settings where molecular diagnostics are unavailable, a confident diagnosis can be made through thorough clinical assessment. Prompt identification is paramount for initiating multidisciplinary management, thereby improving the patient\u27s long-term health and quality of life, with the patient currently awaiting surgical repair of her cardiac defect and referral for orthopedic and dental care
Malrotation with Midgut Volvulus Beyond Infancy Requiring an Extensive Ileal Resection: A Case Report
Get PDFMidgut malrotation is a congenital anomaly resulting from abnormal rotation and fixation of the midgut during embryogenesis. It can be complicated by volvulus and intestinal obstruction. It rarely presents after the first year of life, which makes it a diagnostic challenge. A 5-year-old Arab female presented to the emergency department (July 2024) with repetitive frothy vomiting and diffuse abdominal pain. Laboratory findings showed leukocytosis, metabolic acidosis (pH 7.04, 13 HCO3), and deteriorating renal and liver functions. Abdominal x-ray and ultrasound suggested intestinal obstruction (the presence of distended bowel loops) without a definitive source for the obstruction. An upper gastrointestinal study wasn\u27t done due to continuous vomiting and worsening acidosis. Resuscitation and immediate surgical exploration to identify and treat the source of obstruction were done on the same day. It revealed an intestinal malrotation with distal jejunal volvulus and borderline ischemia of the ileum. First operation included detorsion of the volvulus, excision of the gangrenous segment (a 6cm segment located 6cm proximal to the ileocecal valve) with anastomosis of the remaining gut, and appendectomy. Postoperatively, the patient improved progressively for a week, but then developed an acute abdominal distension with tenderness, necessitating a relaparotomy with a near-total resection of the ileum (150 cm) and stoma formation (double-barreled ileostomy and jejunostomy). Finally, the stoma was closed, and the patient had a jejunoileal anastomosis. The patient recovered well and was discharged on a regular, pureed diet (weight 15.6 kg, passing soft stool twice/day) after 83 days of inpatient observation.