Case Reports in Medicine最新文献

Behçet's disease (BD) is a systemic inflammatory condition causing oral ulcers, genital sores, eye inflammation, and skin lesions. Autoinflammatory and autoimmune disorders are chronic immune system activation leading to tissue inflammation. Current evidence suggests that BD is at the intersection of autoimmune and autoinflammatory syndromes, with some findings suggesting an autoinflammatory nature. Oral aphthous ulcers are the commonest initial manifestation of the disease. Gastric manifestations in BD are infrequent. The usually seen finding in the stomach is either ulcers or gastritis, presenting as epigastric pain. BD has been linked with several autoimmune diseases; however, it has not yet been seen with autoimmune atrophic gastritis. We present a case of a 62-years-old male patient presenting for oral aphthous ulcers with vague abdominal pain, epigastric discomfort, and postprandial nausea. The patient was positive for HLA-B5 alleles, leading to a diagnosis of BD. Gastroscopy and colonoscopy were done to investigate a probable etiology for this patient's epigastric discomfort and abdominal pain. Gastroscopy showed multiple erosions at the level of the fundus and atrophic folds at the level of the body of the stomach, but no important findings were seen on colonoscopy. Furthermore, a gastric biopsy was done and confirmed the presence of autoimmune atrophic gastritis at the level of the fundus and antrum of the stomach which is atypical in BD that is commonly associated with aphthous ulcerations at the level of the terminal ileum. To our knowledge, this is the first case reported, which should prompt for further investigation behind the mechanism linking these two diseases.

Background: Dilated cardiomyopathy is a leading cause of heart failure and heart transplantation. Among its etiologies, genetic variants account for up to 35% of cases. Variants in the FLNC gene have gained recognition due to their association with a higher risk of major ventricular arrhythmias and sudden cardiac death. Early identification and intervention are critical to improving patient outcomes. Case Presentation: We present the case of a 28-year-old male with no cardiovascular history who presented with ischemic stroke. Neurological improvement was noted following thrombolysis. Extensive testing ruled out infectious, thrombotic, and autoimmune causes. Subsequent evaluation revealed severe left ventricular systolic dysfunction (ejection fraction of 20%) and biventricular dilated cardiomyopathy. Genetic testing identified a likely pathogenic FLNC variant NM_001458.5(FLNC):c.1156G>T; p.Glu386∗, confirming the diagnosis of FLNC-associated dilated cardiomyopathy. Discussion: This case highlights the importance of investigating genetic causes in young patients presenting with unexplained dilated cardiomyopathy. Although truncating FLNC mutations are rare, they are associated with adverse outcomes, including major ventricular arrhythmias and sudden cardiac death. Atypical biventricular involvement suggests overlapping phenotypes, complicating the diagnostic process. Advanced imaging modalities, comprehensive management strategies, and early genetic testing are crucial to optimizing patient outcomes.

Adult-onset Gitelman syndrome with calpainopathy is a rare clinical condition in patients with diabetes mellitus. We present the case of a 52-year-old male diabetic patient who presented with muscle weakness and fatigue. On evaluation, he had reduced power in the thigh and pelvic girdle muscles. Laboratory tests revealed hypokalemia, hypomagnesemia, metabolic alkalosis, kaliuresis, and hypocalciuria, which led to the diagnosis of Gitelman syndrome. Electromyography revealed a myopathic pattern with polyphasic motor unit action potentials of a short duration. Genetic analysis revealed a heterozygous mutation in CAPN3, suggestive of autosomal dominant calpainopathy or limb girdle muscular dystrophy. He was administered intravenous potassium and magnesium supplements, followed by oral potassium chloride, magnesium oxide, and potassium-sparing diuretics. The patient had improved muscle strength on follow-up, with resolution of the electrolyte abnormalities. This case report highlights this rare clinical entity, its variable clinical manifestations, and the pathophysiological mechanisms involved in electrolyte abnormalities.

Background:Fibrillin-1 (FBN1) is a major structural component of the extracellular matrix, providing strength and stability to tissues. Pathogenic variants lead to the development of FBN1-associated syndromes which comprise a broad host of phenotypes, and more commonly, Marfan syndrome (MFS). MFS is typically diagnosed in patients presenting with ectopia lentis, thoracic or aortic disease, and skeletal features, which may prompt genetic testing. Case Presentation: In this case report, we describe the reclassification of a newly identified heterozygous FBN1 variant, c.2686T > A, p.(Cys896Ser), to likely pathogenic in a Caucasian 21-year-old female patient presenting with abnormal anterior eye segment with superior bilateral ectopia lentis; joint pain affecting wrists, knees, and upper back; and mild thoracolumbar scoliosis. Identification of this variant led to cascade testing in the patient's 49-year-old mother which revealed the same FBN1 variant and an incidental finding of aortic dilatation, prompting standard management. Notably, the identification and reclassification of the variant led to early diagnosis and preventive management in the patient's mother, including cardiovascular monitoring and treatment. The segregation of the phenotype in both patient and mother, the family member testing, the variant's absence in control populations, and all in silico tools predicting pathogenicity led to the reclassification of this FBN1 variant to likely pathogenic. Conclusion: We highlight the reclassification of a variant of unknown significance through careful clinical correlation and family-based evaluation. This reclassification led to a timely diagnosis and preventive management through cascade testing, demonstrating the real-world utility of genetic testing and cascade screening in connective tissue disorders.

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare hereditary disorder characterized by defective phosphate homeostasis, leading to ectopic calcium deposition in soft tissues. This case report describes a 41 year-old Jordanian male with HFTC and stage 5 chronic kidney disease (CKD) secondary to nonsteroidal anti-inflammatory drug (NSAID) abuse, who presented with symptoms suggestive of uremic pericarditis (UP). His medical history included multiple excisions for tumoral calcinosis, epilepsy, and hypertension. Upon presentation, the patient exhibited severe retrosternal pain, dyspnea, and signs of renal failure. Laboratory findings confirmed severe anemia, metabolic acidosis, hyperkalemia, hyperphosphatemia, and hypocalcemia. Imaging revealed mild pericardial effusion and echogenic kidneys. Following a diagnosis of UP, the patient was initiated on daily hemodialysis and received blood transfusions and antibiotic therapy. His condition improved significantly, with complete regression of pleural effusion and stabilization of renal function. This case emphasizes the importance of effective pain management in HFTC to prevent the misuse of analgesics like NSAIDs, which can lead to severe complications such as UP. This report serves as a valuable reminder of the intricate relationship between medication management and the worsening of underlying health conditions in patients with HFTC.

COVID-19 is associated with a hypercoagulable state, often managed with anticoagulation therapy to prevent thrombotic events. However, anticoagulation can lead to rare but serious bleeding complications. We present the case of a 62-year-old male with severe COVID-19 admitted to the intensive care unit (ICU) with shortness of breath, cough, and oxygen desaturation. Also, he had diabetes, undergoing treatment with Neutral Protamine Hagedorn (NPH) insulin, and ischemic heart disease. On the eighth day of his admission, he developed a spontaneous sublingual hematoma while on unfractionated heparin therapy. The patient was managed conservatively with blood pressure control, cold compresses, adjustment of anticoagulation and close monitoring with laboratory anticoagulation tests, and careful observation. Despite the hematoma's initial enlargement, he exhibited no respiratory distress, and the hematoma gradually resolved without surgical intervention. This case highlights the need for vigilant monitoring, careful management of anticoagulation, and a multidisciplinary approach in balancing the benefits and risks of anticoagulation in COVID-19 patients.

Thyroid dyshormonogenesis is an inherited hypothyroidism caused by a monogenic defect, in the vast majority of cases, in thyroid hormone biosynthesis. It is commonly associated with thyroid enlargement which is vulnerable to nodule formation. We present a Qatari patient with an overlooked diagnosis of thyroid dyshormonogenesis due to thyroglobulin gene mutation. A 10.5-year-old boy has been following up for congenital hypothyroidism since the age of 4 years. He was diagnosed by newborn screening that was confirmed by laboratory thyroid function testing; however, no further workup was done to understand the underlying cause. He was born to consanguineous parents with a family history of hypothyroidism. The patient was not adherent to his medication and follow-up visits, and thyroid-stimulating hormone was above 5 mIU/L most of the time. On examination, he had a goiter that developed a few months ago. The father admitted that it was there at birth but disappeared with levothyroxine therapy. Molecular genetics revealed a homozygous c.4426T > C, p.Cys1476Arg variant in the thyroglobulin gene. This variant was only previously reported, in the Middle East region, in five patients. Determination of congenital hypothyroidism underlying etiology is important for family counseling and long-term management.

Background: Lipoma is one of the benign tumors that originate from adipose tissue, most likely in the neck, chest, back, shoulders, arms, and thighs. It is rare to find lipoma originating from submucosal adipose tissue. Colonic submucosal lipomas develop at frequency of 0.035%-4.4%. The incidence of submucosal colonic lipoma is 0.15% at colonoscopy. Intussusception is a common cause of bowel obstruction in children; however, it is rare in adults. Usually, it has a malignant background in adults. Case Presentation: A 43-year-old male presented to the hospital with a history of intermittent abdominal pain for 6 months. Pain is associated with alternating diarrhea and constipation. Physical examination showed left lower abdominal tenderness. CT scan of the abdomen showed sigmoid colo-colonic intussusception. Discussion: Colo-colonic intussusceptions account for 17% of all intestinal intussusceptions in adults, and it is most likely caused by malignant lesions rather than a submucosal lipoma. Conclusion: Submucosal lipoma is a rare cause of colo-colonic intussusceptions. It should be considered in differential diagnosis.

Background: Cannabinoid hyperemesis syndrome (CHS) is a condition characterized by cyclic abdominal pain, vomiting, and nausea, primarily affecting adolescents and adults with a history of chronic cannabis use. The diagnosis of CHS is clinical, with symptom resolution upon cannabis cessation considered pathognomonic. The overlap of CHS symptoms with other conditions complicates the differential diagnosis, particularly in emergency settings. Case Presentation: We report an unusual case of a 28-year-old man admitted to the Emergency Department of Rovereto (Italy) with limb paresthesia and agitation. Initial evaluation revealed indirect clinical signs of hypocalcemia, and QTc prolongation and severe hypokalemia on electrocardiogram. The arterial blood gas analysis suggested mixed acid-base disturbances. His symptoms improved with aggressive electrolyte correction, benzodiazepine administration, magnesium sulfate administration, and fluid resuscitation. Given the significant risk of arrhythmias, antiemetics known to prolong QTc, such as dopamine antagonists, were contraindicated, and midazolam was used as an alternative for symptom control (both nausea and agitation). Conclusion: This case underscores the importance of recognizing CHS as a potential etiology in patients with recurrent vomiting and a history of chronic cannabis use, even in the presence of atypical findings such as profound electrolyte imbalances and cardiac abnormalities. Given the protracted recovery period associated with CHS, early identification and patient education regarding cannabis cessation are crucial in preventing recurrent episodes.

Furcation defects pose significant challenges in endodontic and periodontal therapy due to their complex anatomy and limited accessibility. Achieving a reliable seal at the apical/cervical/coronal levels is critical for long-term treatment success. This case series investigates the use of calcium-silicate biomaterials, specifically calcium-enriched mixture (CEM) cement, as cervical sealants in the nonsurgical management of furcation defects with endodontic origin, evaluating their regenerative potential and clinical applicability. Six endodontically treated teeth with furcation defects were included. All cases had undergone orthograde root canal therapy in the past and then were nonsurgically retreated with CEM cement placed as a cervical seal for this report. Baseline and follow-up evaluations, conducted over an average period of 31 months, assessed the clinical parameters of probing depths, furcation involvement, and radiographic evidence of healing. Radiographically, five cases demonstrated complete healing/regeneration, and one case showed partial resolution of the furcal lesion. Improvements in periodontal parameters, including lesser probing depths and elimination of bleeding and discharge, were observed across all cases, resulting in restored functionality of the affected teeth. The results suggest that CEM cement was an effective cervical sealing biomaterial for the nonsurgical management of furcation defects with endodontic origin. These findings highlight the potential of bioactive endodontic materials in minimally invasive dental therapies. Further studies with larger sample sizes and long-term follow-ups are needed to validate these findings.