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. Continue Reading

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,... Continue Reading

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.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... Continue Reading

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: arly recognition and surgical intervention of a DM detachment at cataract surgery are likely to enableresolution 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... Continue Reading

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... Continue Reading

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... Continue Reading

Background: Bone conduction implants are essential devices for enhancing auditory perception in patients with conductive or mixed hearing loss, particularly when conventional hearing aids fail to meet their needs. The advancement of bone conduction technology has led to improved patient outcomes and quality of life.Case Presentation: This case series presents two case reports detailing the transition from unilateral BAHA Attract®and bilateral BAHA Connect®systems to bilateral Osia®implants. These transitions address the significant limitations of traditional BAHA systems, such as skin complications and sound attenuation. The transition involved careful planning and assessment, ensuring that the new Osia®implants were suitable for their individual auditory profiles. Post-implantation evaluations indicated a marked improvement in auditory performance and overall satisfaction.Conclusion: The case reports demonstrate the superior performance of Osia®implants, highlighting their potential to reduce complications and significantly improve auditory outcomes. These findings also demonstrate the clinical benefits and growing relevance of transitioning from BAHA to Osia®systems... Continue Reading