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Open access Case Report | September 25, 2024
Using Point of Care Ultrasound in Diagnosing Pneumoperitoneum: a case report

Maram Althagafi, Najeeb Alqarni, Bsaim Altirkistani

Year: 2024
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Background: Gastrointestinal perforation with subsequent pneumoperitoneum is a life-threatening surgical emergency, has a high risk of morbidity and mortality, and requires prompt diagnosis and treatment. 

Case presentation: A four-year-old boy known case of lymphocele, tethered spinal cord syndrome, neurogenic bladder, and vesicoureteral reflux grade 3 was brought to the emergency department with a history of on and off periumbilical abdominal pain for 15 days, centralized in position, without radiation to other sites of abdomen, the pain became progressively severe in nature and intensity in the last three days. Point of care ultrasound was performed while waiting for the abdomen x-ray. The right upper quadrant of the abdomen was assessed using the curvilinear probe in the longitudinal view, which showed sonographic evidence of pneumoperitoneum, enhanced peritoneal stripe signs EPSS associated with posterior reverberation artifacts.

Conclusion: Understanding the fundamentals of abdominal ultrasound examination will give emergency physicians another diagnostic tool to identify life-threatening cases of acute pneumoperitoneum promptly.

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Open access Case Report | October 11, 2024
Intraventricular pilocytic astrocytoma: A case report

Almohannad S Algarni, Saud S Alasmari, Abdulaziz S Alqahtani, Turki D Alshammari, Abdu M Alkhairi

Year: 2024
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Background: Pilocytic astrocytomas (PA) are low-grade, benign gliomas classified as WHO grade I, representing 6% of all gliomas and commonly found in children. Intraventricular pilocytic astrocytomas (IVPA) are rare, accounting for only 4% of PA cases.

Case Presentation: We report a 42-year-old Saudi woman with recurrent positional headaches but no neurological deficits. MRI showed a 1.2-cm non-enhancing lesion near the foramen of Monro, initially thought to be a colloid cyst. The lesion was excised via an interhemispheric transcallosal approach. Histopathology confirmed PA with biphasic tissue, glomeruloid vessels, and strong GFAP positivity, classified as WHO grade I. No further chemotherapy or radiotherapy was required.

Postoperative Outcome: Post-surgery, the patient had transient short-term memory issues, partially resolving within six months, and her headaches ceased. Initial imaging showed pneumocephalus, which resolved after one month.

Discussion: IVPA typically remain asymptomatic until they cause hydrocephalus by obstructing cerebrospinal fluid pathways. Radiologically, they appear as well-defined lesions with mixed cystic and solid components. Complete surgical resection is crucial to minimize recurrence.

Conclusion: IVPA, though rare in adults, should be considered in the differential diagnosis of intraventricular lesions. This case highlights the significance of accurate diagnosis and surgical management for this uncommon tumor.

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Open access Case Report | October 20, 2024
Gastric outlet syndrome due to primary gastric signet-ring cell carcinoma in a 22-year-old woman: a case report

Julie Tuypens, Jaro Van Zande, Yves Van Molhem, Koenraad Hendrickx

Year: 2024
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Background: Gastric cancer (GC) is the fifth most common diagnosed cancer and the third most prevalent cause of cancer-related mortality globally. Although there has been a decline in the overall occurrence of gastric cancer over recent years, the prevalence of signet-ring cell carcinoma (SRCC) has shown a consistent rise, representing up to 30% of gastric adenocarcinoma cases [1].
Case Presentation: We present an unusual case of a 22-year-old woman with gastric outlet syndrome secondary to a primary gastric signet-ring cell carcinoma. A gastro-duodenal endoscopy showed a markedly oedematous substenotic pyloro-bulbar region without any ulcers. Biopsy demonstrated gastric mucosa with tumoral cells originating from an adenocarcinoma of the diffuse type (signet-ring cell carcinoma). An abdominal CT scan detected an intestinal malrotation, making an endoscopic gastro-enterostomy not feasible. Despite FDG PET-CT showed no distant metastasis, during staging laparoscopy metastatic implants were detected on the peritoneum, diaphragm and small bowel mesentery. There was no amplification of the HER2 gene and no PD-L1 expression in the tumour cells, making this patient not eligible for immunotherapy. A jejunostomy was placed for enteral nutrition and chemotherapy (FOLFOX) was initiated.
Conclusion: Although diffuse type gastric carcinoma in young adults is extremely rare, clinicians should be aware of its growing incidence and the importance of early diagnosis. This case advocates for considering gastric carcinoma in the differential diagnosis of gastric outlet syndrome, even in a patient population where this rarely occurs, as early-stage diagnosis is crucial to afford these patients improved opportunities for curative treatment.

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Open access Case Report | October 20, 2024
Evaluating Treatment Response in Breast Cancer: A Case Report on Static Metastatic Disease on Bone Scans

Farkhanda Gillani, Muhammad Babar Imran, Warda Ahmad, Saira Zafar, Nayyar Rubab, Muhammad Ejaz Khan, Muhammad Shahzad Afzal

Year: 2024
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Background: We report a case of a 54-year-old female patient with carcinoma of the left breast with persistent methylene diphosphonate (MDP) uptake in sclerotic osseous lesions. These lesions were finally declared treated osseous metastatic lesions due to non-avidity on the F18 FDG PET-CT scan, normalization of CA-15.3, and resolution of bone pains. To the best of our knowledge, this has not been reported previously. 
Case presentation:
A 54-year-old woman with persistent backache was referred for further evaluation by a Tc99m MDP bone scan. A Tc-99mmMDP bone scan showed wide-spread skeletal metastatic disease. Magnetic resonance imaging (MRI) showed extensive marrow disease involving the spine and iliac bones. A bone marrow biopsy revealed metastatic carcinoma with a tumor phenotype favoring breast primary. On further workup, the patient was diagnosed with invasive ductal carcinoma of the left breast and was treated with cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitors along with hormone therapy and bisphosphonates, followed by radiation therapy for bone metastasis. The skeletal metastatic disease remains static on three consecutive Tc99m MDP bone scans, despite the clinical improvement and decreased tumor marker levels.
The F18-FDG-FDG-CT scan done for monitoring treatment response revealed multiple non-avid sclerotic osseous lesions, favoring treatment response. The patient was continued with the same treatment, and a follow-up Tc99m MDP bone scan after 6 months revealed no interval change in the reported lesions compared to the initial scan. However, a synergistically performed F18 FDG PET-CT scan again showed multiple non-avid sclerotic osseous lesions suggestive of treated metastasis.
Conclusion: This case highlights the importance of 18F-FDG PET-CT in evaluating the treatment response, especially in patients with symptomatic improvement and falling tumor marker levels with static disease on repeated Tc99m MDP bone scans.

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Open access Case Report | October 20, 2024
Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review

Berrada Sarah, Tazzite Amal, Fatima Maarouf, Gazzaz Bouchaib, Dehbi Hind

Year: 2024
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Background: Phelan-McDermid syndrome (PMS) [OMIM: 606232] is a neurodevelopmental disorder commonly due to a deletion of chromosome 22q13.3. It is characterized by neonatal hypotonia, severely delayed absenting speech, developmental delay, and minor dysmorphic facial features.
Case Presentation: The Comparative genomic hybridization array was performed on three patients referred to our genetics department for an autism spectrum disorder and facial dysmorphia. The results showed a deletion of chromosome 22.
Conclusion: In summary, the genotype-phenotype of PMS is still not clear. Moreover, the penetrance of this deletion seems to be incomplete for some genes, leading to variable phenotypes in patients with the same deletion.

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Open access Case Report | October 25, 2024
A Patient With Total Basilar Artery Thrombosis With reccurent TIAs: A case report

Bader AlRowaished, Grover Holzwarth, Rawan AlMalki, Ziyad AlShagawi, Abdulaziz AlGhamdi

Year: 2024
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Background: Managing acute ischemic stroke in patients with significant comorbidities, such as hypertension, heart failure, and substance abuse, presents unique challenges. Timely intervention is critical, but the risk of complications and poor prognosis is high.
Case Presentation: A 46-year-old male with a history of smoking, drug abuse, poorly controlled hypertension, and dilated
cardiomyopathy with an ejection fraction of 25%-30% presented with sudden left-sided weakness, facial droop, and dysarthria.
The initial National Institutes of Health Stroke Scal score was 6. Computed tomography (CT) brain showed no acute infarctions
but revealed chronic lacunar infarctions and atrophy. CT angiography identified significant vascular abnormalities, including
right internal carotid artery attenuation and non-visualization of both intracranial vertebral and basilar arteries. Intravenous
thrombolysis (tPA) led to initial improvement, but recurrent strokes or transient ischemic attacks (TIAs) followed, leading to
intubation and mechanical ventilation. Magnetic resonance imaging revealed evolving infarctions in the pons and cerebellum. A basilar artery thrombectomy was successfully performed, but postoperative complications included spontaneous pneumothorax and femoral artery pseudoaneurysm, requiring further interventions. Due to extensive posterior circulation infarction, the patient had a poor neurological prognosis and was placed on do not resuscitate status.
Conclusion: This case highlights the complexities of treating acute ischemic stroke in patients with substantial comorbidities.
While interventions such as thrombolysis and thrombectomy are critical, they carry risks. A multidisciplinary approach is
necessary to balance immediate treatment with considerations of long-term prognosis and quality of life. 

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Open access Case Report | October 25, 2024
Descemet’s membrane detachment during cataract surgery: a case report

Aina Pons, Cristina Christian, Abhinav Loomba, Sid Goel

Year: 2024
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Background: Descemet’s membrane detachment is a possible complication after cataract surgery and has been reported to
happen in 0.5% of cases after cataract surgery.
Case Presentation: A 77-year-old male patient underwent right eye cataract surgery and presented 2 weeks after surgery with
decreased visual acuity (CF) in the operated right eye. There was generalized cornea edema and the Descemet’s membrane (DM) was noticed to be detached at 80% of the corneal surface. At 12 days postoperatively, a descemetopexy with intracameral air bubble was performed following the principles of endothelial keratoplasty. On follow-up, the visual acuity in the right eye was 6/7.5 with complete corneal clarity at 2 months.
Conclusion: Early recognition and surgical intervention of a DM detachment at cataract surgery are likely to enable
resolution without the need for a transplant. If suspected or identified at the end of surgery, anterior chamber air insertion is
recommended. It is important to note that separated DM can mimic a retained anterior capsule flap. Care must be taken when
considering removal of any clear membranes at the end of cataract surgery.

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