SAGE Open Medical Case Reports最新文献

A 15-year-old boy presented with pink proliferative plaque over both lips. The child was born to a non-consanguineous couple, at full term, and uneventful antenatal, perinatal history. Examination revealed a cobblestone appearance over tongue with papilliferous projections in both labial mucosa with slate-grey pigmentation. The child had multiple lipomatosis and thyroid swelling. Father had thyroid swelling with multiple epidermoid cysts. A final diagnosis of Cowden syndrome. Genetic analysis could not be performed due to financial constraints. Oral mucosal cobblestone appearance is seen in Darier disease, Cowden's syndrome, lipoid proteinosis, granulomatous cheilitis, mucosal neuroma, Crohn's disease, and mucous membrane plasmacytosis. Diffuse oral mucosal melanosis is described in Peutz-Jeghers syndrome, Laugier-Hunziker-Baran syndrome, Cowden syndrome, and Addison's disease. We report this rare genodermatosis, which presents as oral papillomatosis. Early recognition of Cowden syndrome is crucial, as timely diagnosis enables appropriate cancer surveillance, genetic counseling, and preventive interventions, thereby reducing morbidity and improving long-term outcomes.

Tardive dyskinesia is a hyperkinetic movement disorder most often induced by chronic antipsychotic use. It can be challenging to treat, particularly when symptoms persist despite standard therapies such as vesicular monoamine transporter 2 inhibitors. We describe a 37-year-old male with schizoaffective disorder and persistent tardive dyskinesia involving oro-buccal-lingual and axial movements. Despite withdrawal of antipsychotics, a trial of deutetrabenazine, and high-dose tetrabenazine (150 mg/day for several weeks), symptoms persisted and significantly impaired critical care management. On hospital day 46, phenobarbital was initiated (dose and route here), resulting in rapid improvement of dyskinetic movements within 3 days. By hospital day 54, complete resolution of tardive dyskinesia was observed, and notably, symptoms did not recur after phenobarbital discontinuation. The patient maintained clinical improvement during long-term follow-up, with Abnormal Involuntary Movement Scale score improving to 2 at 18 months. This case illustrates a potential novel role for phenobarbital in refractory tardive dyskinesia, particularly when conventional therapies fail. The sustained response beyond the drug's pharmacokinetic profile raises the possibility of a disease-modifying or prolonged therapeutic effect. Given phenobarbital's activity on Gamma Aminobutyric Acid B receptors, its mechanism may involve modulation of GABAergic pathways implicated in the pathophysiology of tardive dyskinesia. Further investigation in clinical studies is warranted.

The following case report details the case of a 40-year-old Caucasian patient who presented with dyspnea following a serologically confirmed mild-to-severe pulmonary infection with SARS-CoV-2. Chest computer tomography revealed a solitary ground-glass pulmonary nodule in the lower right lobe, measuring 2.1 cm in diameter. Video-assisted thoracoscopic surgery wedge resection revealed well-circumscribed lymphoid aggregates adjacent to the round, smaller airways, bronchioles, and blood vessels. IgKappa B exhibited a monoclonal polyclonal pattern, in contrast to the behavior exhibited by IgKappa A and IgLambda. In the following discussion, the lymphoid lesion was considered in the context of lymphoid hyperplasia, accompanied by an early infiltration of low-grade extranodal B cell lymphoma of the bronchus-associated lymphoid tissue (BALToma).

Acute cerebral infarction, or stroke, is one of the leading causes of death and disability among adults worldwide, and the key to its treatment is achieving early recanalization of occluded blood vessels, methods for which include intravenous thrombolysis and mechanical thrombectomy. This article reports a case of a 43-year-old female who suddenly suffered acute cerebral infarction and was treated with tissue plasminogen activator intravenous thrombolysis. During the thrombolysis process, transcranial Doppler ultrasound was used to evaluate acute occlusion of the left middle cerebral artery, which was confirmed via an emergency head magnetic resonance angiography and digital subtraction angiography. Before mechanical thrombectomy, repeat angiography showed that the occluded left middle cerebral artery had regained blood flow, and after postoperative follow-up transcranial Doppler ultrasound, the blood flow of the left middle cerebral artery and anterior cerebral artery was found to have fully recovered. The patient's symptoms were completely relieved, and they were discharged after 7 days of treatment, with follow-up at 2 weeks and 3 months showing no abnormal symptoms or intracranial blood flow. This case not only provides evidence that tissue plasminogen activator intravenous thrombolysis can salvage the ischemic penumbra, dissolve thrombi, and encourage reperfusion in occluded intracranial large arteries, but it also emphasizes the critical role of transcranial Doppler ultrasound in the rapid assessment of acute large vessel occlusions. As such, our report highlights the importance of transcranial Doppler ultrasound in clinical interventions to optimize outcomes in acute stroke management.

Providencia rettgeri is a Gram-negative bacterium, rarely reported as a cause of diabetic wound infections. Its frequent resistance to β-lactams and carbapenems limits treatment options, especially in immunocompromised patients. We present the case of a 59-year-old unhoused male living with diabetes, peripheral artery disease, and prior bilateral transmetatarsal amputations who presented with a University of Texas 3B diabetic foot ulcer. Magnetic resonance imaging showed osteomyelitis of metatarsals 2-4, and bone biopsy grew Providencia rettgeri and Proteus mirabilis. The patient declined further surgery and was treated with 6 weeks of cefepime and metronidazole, with outpatient wound care, achieving wound closure in 3 months. We performed a systematic scoping literature review on Providencia rettgeri wound infections in humans, detailed below, which identified only eight studies that met our inclusion and exclusion criteria. Most cases involved snake bites or critically ill patients, and none documented lower extremity bone involvement. Resistance patterns varied, but co-infection was common. Given its rarity and potential for multidrug resistance, Providencia rettgeri should remain on the differential for non-healing diabetic wounds. This case expands the limited literature and highlights the importance of culture-driven antibiotic therapy in complex infections. Recognition of Providencia rettgeri as a rare but clinically significant pathogen in diabetic foot osteomyelitis has implications for empiric antibiotic selection and clinical outcomes.

Hepatocellular carcinoma (HCC) is a common and aggressive malignancy. While common metastatic sites of hepatocellular carcinoma include the lung, bone, and lymph nodes, pharyngeal metastasis is extremely rare. This case report presents a unique case of a patient with hepatocellular carcinoma who developed pharyngeal metastasis. We describe the patient's clinical course, diagnostic work-up, and treatment strategies and details. We paid special attention to diagnostic difficulties and to ways of its resolving. Additionally, a comprehensive literature review was performed to summarize the characteristics, possible mechanisms, and management of hepatocellular carcinoma pharyngeal metastasis. By presenting this case and reviewing the literature, we aim to raise awareness among clinicians about this rare metastatic manifestation of hepatocellular carcinoma and provide insights into its diagnosis and treatment.

Stapedial fixation coupled with incomplete partition type 2 and enlarged vestibular aqueduct (EVAS) represents a unique challenge in managing hearing loss owing to the risks of stapedial surgery and the need for alternative hearing restoration methods. This case report describes the selection, implementation, and outcomes of an Osia-2 implantable bone conduction device in a 17-year-old male patient with severe bilateral mixed hearing loss. Seventeen-year-old male patient with severe to profound bilateral mixed hearing loss due to incomplete partition type 2 and EVAS in the presence of audiolotical findings of stapedial fixation. His bone thresholds pure tone average of 40 dB hearing level and an air thresholds PTA of 70 dB hearing level. A nonsurgical bone conduction hearing assistive device demonstrated improved sound performance and high patient satisfaction. Subsequently, an OSI200 implant was used. A posteroinferior incision was created with the BI300 carefully placed 6.5 cm from the external auditory canal. The postoperative outcomes were remarkable, suggesting air-bone gap over-closure with an Osia-aided PTA of 31.67 dB hearing level and an aided speech discrimination score of 96%. Notably, the unaided bone conduction hearing remained unchanged, underscoring the efficacy of the implant in enhancing auditory function without compromising residual hearing. The patient maintained stable hearing levels up to 18 months, confirming the durability of hearing preservation and gain. This case underscores the efficacy of the OSI200 device in managing severe mixed hearing loss in patients with inner ear anomalies, such as incomplete partition type 2 and EVAS. The smooth soft drilling needed for the BI300 implant, and posterior placement, thus improving hearing without altering the unaided bone conduction thresholds.

A 35-year-old man presented with left-hand pain, swelling, and erythema. He was initially treated with prednisone, and his symptoms briefly improved but worsened shortly after. Lab tests showed elevated inflammatory markers, and he was referred to rheumatology for suspected rheumatoid arthritis. He later returned to the emergency department with worsening joint pain and painful urination. Imaging revealed muscle swelling without abscess, and he was treated with intravenous antibiotics for presumed cellulitis. Although symptoms improved, cultures later confirmed gonorrhea. He received ceftriaxone and azithromycin at urgent care; then completed intravenous treatment at the hospital. This case illustrates an unusual presentation of disseminated gonorrhea, which typically affects skin and joints, but can mimic cellulitis. Clinicians should consider gonorrhea in the differential diagnosis of unexplained joint pain and swelling, especially when accompanied by urinary symptoms or skin involvement, even in the absence of typical signs of a sexually transmitted infection.

Protein-Losing Enteropathy (PLE) is the loss of protein through the gastrointestinal tract, subsequently leading to low levels of protein in the serum. The differential diagnosis for PLE is broad, and treatment is based on identifying and appropriately treating the underlying cause of the PLE. A 2-year-old boy presented with diarrhea, vomiting, edema, anemia, hypoalbuminemia, low serum IgG, and elevated stool alpha-1-antitrypsin, concerning for PLE. Endoscopy/colonoscopy showed mild reactive changes in the gastric and duodenal mucosa and was otherwise normal with no evidence of autoimmune enteropathy. MRI abdomen was negative for mesenteric lymphatic malformations. Echocardiogram showed a structurally normal heart. Urine CMV PCR was positive, and he was treated with valganciclovir for suspected Menetrier's disease, with no improvement in symptoms. He was incidentally noted to be hypoglycemic and subsequently admitted with profoundly labile blood glucose requiring glucagon and continuous glucose infusions. Further workup demonstrated hyperinsulinism, up-trending liver enzymes with normal international normalized ratio, and coagulopathy with low factor 11 and antithrombin with PICC-associated DVT. The constellation of PLE, transaminitis, hyperinsulinemic hypoglycemia, and coagulopathy was concerning for a congenital disorder of glycosylation (CDG). Transferrin glycosylation studies showed a CDG type I pattern and were confirmed via genetic testing with biallelic variants in the mannose phosphate isomerase (MPI) gene, which established the diagnosis of mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG). Mannose therapy resulted in complete resolution of his edema, diarrhea, hypoalbuminemia, transaminitis, and hypoglycemia. CDGs include over 100 monogenic diseases with defects in the synthesis of oligosaccharides. Though a rare cause of PLE, MPI-CDG is an important consideration in the differential given the availability of an effective therapy. Treatment is well-tolerated and highly effective. In the case presented, the patient began showing symptomatic and biochemical improvement within a week of initiating therapy.

Serotonin syndrome (SS) is a potentially life-threatening condition caused by excessive serotonergic activity in the central nervous system. It is commonly linked to combinations of serotonergic prescription drugs; however, over-the-counter or prescription cold medications containing dextromethorphan (DM) or first-generation antihistamines may also pose a risk. We report a case of a 52-year-old male on sertraline who developed SS after taking Bromfed DM, a cough syrup containing brompheniramine, pseudoephedrine, and DM. Three days after starting the medication, he experienced confusion, dilated pupils, myoclonic foot movements, and difficulty with speech. Symptoms improved following the discontinuation of both sertraline and Bromfed DM. This case underscores the importance of recognizing the serotonergic potential of common cold medications and the risk of SS even at therapeutic doses, particularly in patients on selective serotonin reuptake inhibitors (SSRIs). Prompt identification and cessation of the causative agents are critical to avoid complications.