Journal of Medical Case Reports最新文献

Background: Kümmell's disease is characterized by ischemic osteonecrosis and nonunion after osteoporotic vertebral compression fractures, leading to intractable low back pain, pseudoarthrosis, kyphosis, and neurological dysfunction, which can seriously affect the quality of life and life expectancy of patients. Although many surgical methods have been reported, uniform standard procedures for Kümmell's disease are still lacking.

Case presentation: This case described a new procedure for Kümmell's disease. A 67-year-old woman from China underwent semi-vertebral column resection through the posterior of the diseased vertebra, while the posterior ligament complex and the contralateral spinal structure were preserved. Subsequently, intervertebral titanium cage support bone graft fusion combined with posterior pedicle screw internal fixation was conducted, and the patient was followed up with for 22 months. Kyphosis Cobb angle was 20° 2 weeks post-surgery and was maintained at 20° even after 22 months. Titanium cage was in a good position 2 weeks and 22 months after surgery.

Conclusion: This new spine surgery could completely decompress the spinal canal and reduce the iatrogenic destruction of spinal stability, which might be helpful for the reconstruction and maintenance of spinal stability.

Background: Idiopathic isolated aneurysms in pediatric patients are rare and present significant diagnostic and therapeutic challenges owing to their low incidence, small anatomical size, and the associated risks of injury to surrounding structures. Timely diagnosis and the selection of the most appropriate intervention require careful consideration.

Case presentation: An 11-year-old Persian boy presenting with abdominal pain for 2 months before admission was diagnosed with an isolated left internal iliac artery aneurysm through computed tomography imaging. He underwent open surgery for excision of the aneurysm. The iliac vein was adherent to the aneurysmal sac and significantly compressed, complicating the dissection and exploration. Nevertheless, proximal control was achieved, and the iliac vein was gradually separated and decompressed, allowing for the safe excision of the aneurysmal sac. The surgery was completed without intraoperative or postoperative complications.

Conclusion: Successful surgical intervention in pediatric patients with iliac artery aneurysms is achievable with careful planning and technique. This case report demonstrates the effectiveness of surgical management, with the patient remaining asymptomatic and showing no signs of recurrence during follow-up.

Background: Pneumomediastinum in pregnancy has been described in around 200 cases, with an incidence of 1:100,000 pregnancies. The etiology is presumed to be either alveolar barotrauma secondary to the Valsalva maneuver (Hamman's syndrome) during the second stage of labor, or spontaneous esophageal rupture (Boerhaave's syndrome). The latter has a much higher morbidity/mortality and classically arises from esophageal rupture during excessive vomiting. Boerhaave's syndrome is described as a triad of chest pain, vomiting, and surgical emphysema, though all symptoms are seen in only one-third of cases. The majority of reported obstetric cases originate from vomiting in early pregnancy with patients clinically unwell, presenting with acute severe chest pain and shortness of breath.

Case presentation: We present a case of esophageal rupture in a 24-year-old Eastern European primigravida, presenting postnatally with neck emphysema in the absence of significant chest pain or other symptoms.

Conclusion: The diagnosis of Boerhaave's syndrome is often delayed, and a high index of clinical suspicion is required to reach a timely diagnosis.

Background: Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevated serum low-density lipoprotein cholesterol levels, tendon xanthomas, and an increased risk of atherosclerotic heart disease. Diagnosing familial hypercholesterolemia at an early age is crucial owing to its potential to lead to severe cardiovascular complications, including coronary heart disease and aortic valve disease. Early detection allows timely intervention, such as lifestyle modifications and pharmacological treatments, which can significantly reduce these risks.

Case presentation: In this case report, we present a case of familial hypercholesterolemia in a 13-year-old Bangladeshi girl residing in Faridpur, Bangladesh. The patient presented with a distinctive clinical profile, including the presence of tendon xanthoma in the hands and cutaneous xanthoma in the elbow, knee, and buttocks, as well as recent development of aortic valvular diseases. In addition, she experienced joint deformity in both hands, mimicking rheumatoid arthritis, which is uncommon. The patient was diagnosed and underwent treatment through both lifestyle changes and medication. Moreover, her family received genetic counseling, and she was scheduled for regular follow-up.

Conclusion: This case underscores the significance of identifying important physical signs in the diagnosis and management of familial hypercholesterolemia, particularly in settings where genetic testing may be limited. Moreover, the unique coexistence of familial hypercholesterolemia with hand joint deformity and aortic valvular heart disease serves as a clinical clue that can facilitate diagnosis and appropriate therapeutic interventions. A high index of suspicion is essential for timely diagnosis and tailored management, thus reducing the burden of atherosclerotic heart disease in affected individuals.

Background: Small bowel obstruction is a common surgical emergency typically caused by adhesions, hernias, and malignancies. However, ileal fecalomas represent an exceptionally rare etiology, with few cases reported in literature. This case study and literature review aim to highlight an unusual cause of small bowel obstruction, emphasizing the diagnostic challenges and management strategies.

Case presentation: A 60-year-old Middle Eastern female patient from Syria with a 1-year history of chronic constipation presented with abdominal pain, vomiting, and an inability to pass feces. Diagnostic imaging confirmed small bowel obstruction, which was caused by a fecal mass proximal to the ileocecal junction. Surgical extraction successfully resolved the obstruction.

Conclusion: This case underscores the importance of considering fecal impaction as a differential diagnosis in patients with chronic constipation and highlights the effectiveness of surgical intervention in resolving such obstructions. A comprehensive review of literature on unusual causes of small bowel obstruction, including imaging characteristics and management approaches, is also provided to enhance clinical awareness and improve patient outcomes.

Background: Tibial hemimelia is an uncommon congenital abnormality ranging from a solitary skeletal deformity to associations with other syndromes. Despite Paley et al.'s detailed classification of tibial hemimelia, some unique sporadic cases still do not fit within this system. In 2021, Chong et al. proposed the most recent surgical approach based on the Paley classification, which inspired cases such as ours.

Case presentation: This case study presents a novel case of tibial hemimelia characterized by a bilobed distal tibia, a shortened first ray, and an equinovarus deformity in a 5-year-old Iranian (Lur) girl. She experienced pain, limping, and cosmetic concerns. The surgical procedures performed for preservation are thoroughly described and discussed.

Conclusion: This case has been identified as a new variant of Paley type 2. A staged approach to reconstructive surgery was advocated to ensure the preservation of ankle function and to prevent extreme procedures such as amputation. The most recent follow-up demonstrated promising results.

Background: Recent advancements in the management of pediatric liver trauma have highlighted the effectiveness of non-operative management as the preferred therapeutic approach. This report presents the case of an 8-year-old patient who sustained significant liver trauma from a substantial fall, successfully managed through non-operative management.

Case presentation: An 8-year-old Iranian child presented with a Grade IV liver laceration and contusion, pneumothorax, and rib fractures after a 1.5 m fall. Initial stable vitals were confirmed. Diagnostic evaluations included serial focused assessment with sonography for trauma scans and computed tomography imaging of the thorax, abdomen, and pelvis. Treatment involved intensive care unit monitoring, intravenous fluid therapy, and a chest tube insertion. The patient's condition improved significantly after 6 days in the intensive care unit, demonstrating the efficacy of non-operative management. The patient was successfully discharged following conservative management. Written informed consent was obtained from the patient's legal guardian for publication of this case report and any accompanying images.

Conclusions: This case highlights the effectiveness of non-operative management in managing high-grade liver injuries. Over the past 2 decades, non-operative management has become increasingly prevalent, particularly in urban healthcare settings, due to its ability to manage hepatic trauma without surgical risks. Advanced imaging and multidisciplinary approaches are critical to its success.

Background: Pediatric neurological disorders include neurodegenerative diseases causing cognitive impairment and vision loss. They are one of the important causes of morbidity and mortality in children with diverse etiologies. Diagnosis is difficult despite genetic work, and a final diagnosis can be achieved in only 60% of cases.

Case presentation: We explore three Indian cases of pediatric neurological diseases (with age presented at the clinic), viz. arthrogryposis (8 years), autism (18 months), and congenital bilateral cataract (3 years), by analyzing clinical exomes. In this work, we attempt to understand rare neurological disorders in an Indian pediatric cohort using exome studies.

Conclusion: We used our benchmarked CONVEX pipeline for screening consensus variants, wherein EIF2B2 was found to be inherently pathogenic. We map the association of variants and genes and disease correlation to neuroleptic malignant syndrome, which matches the phenotype to the cases.