Case Reports in Medicine最新文献

Palatoplasty is a surgical procedure used to repair a cleft palate. Postsurgery there are times when the healing process is disrupted. Honey has been utilised since ancient times as an antibacterial, anti-inflammatory, and regenerative treatment for wounds, and it has been shown to expedite the wound healing process by promoting the formation of new tissue.

Acute upper gastrointestinal bleeding (UGIB) is a medical emergency with most common cause being peptic ulcer disease (PUD) or variceal bleeding. However, cancers that cause UGIB by invading the small intestine are uncommon, and the invasion of renal cell carcinoma (RCC) into the duodenum is an even rarer occurrence. A 55-year-old male presented with melena and right flank pain. Esophagogastroduodenoscopy (EGD) revealed an active bleeding source in the duodenum, later identified on contrast-enhanced computed tomography (CECT) as a duodenorenal fistula (DRF) caused by direct extension of the RCC. The imaging confirmed the presence of a malignant renal mass infiltrating adjacent organs. This atypical presentation of RCC with DRF manifesting as UGIB underscores the importance of comprehensive evaluations in cases of gastrointestinal bleeding to identify rare underlying causes.

We report a case of T-B+NK+ severe combined immunodeficiency disease (SCID) caused by IL2RG gene mutation (NM_000206.3 [IL2RG]: c.925-2A > G). The patient, a 2-month-old male, experienced multiple infections and decreased white blood cells in the early postnatal period. Antibiotic treatment was ineffective and ultimately resulted in multiple organ failure. The second-generation gene sequencing of patient showed that the IL2RG gene had a hemizygous mutation NM_000206.3 (IL2RG): c.925-2A > G, indicating a classical splice site mutation. According to the guidelines of the American College of Medical Genetics (ACMG), NM_00206.3 (IL2RG): c.925-2A > G variants can be classified as pathogenic (PVS1&PM1&PM6).

Cystic fibrosis (CF) is a genetic monogenic disorder inherited in an autosomal recessive manner, marked by persistent airway infections in the endobronchial region. This condition leads to the gradual development of bronchiectasis and, ultimately, respiratory failure, emerging as the primary cause of mortality in individuals diagnosed with CF. Diagnosis is done depending on the patient's symptoms and lung radiological findings like chest X-rays and CTs. In younger patients and children, diagnosis becomes difficult due to overlapping symptoms with other diseases such as CF which is a rare genetic disease in our population. Diagnosis of CF usually relies on characteristic symptoms, a family history of CF, and an abnormal sweat chloride test, but in children, low sweat production during testing leads to false negative results. In this case report, a suspected patient with ambiguous respiratory symptoms underwent a comprehensive investigation revealing elevated CRP levels, TLC, and characteristic pulmonary manifestations on chest X-ray, suggesting cystic fibrosis. Despite negative sweat chloride tests, the patient was analysed for potential candidate SNPs and was also tested for potential CFTR mutations to rule out CF, genetic analysis confirmed the diagnosis. Genetic testing plays a crucial role in diagnosing cystic fibrosis, even when traditional tests are inconclusive. Specific mutations like Δ508 deletion and rs213950 guide personalized treatment. Consanguinity and family history highlight genetic predisposition, while environmental factors may influence symptom onset. Further research is needed to understand these complexities and improve diagnostic and treatment approaches.

Tuberculous meningitis (TBM) is a serious form of TB disease that can result in high morbidity and mortality, particularly if there are delays in diagnosis and treatment. In this case report, a 9-month-old girl was admitted with persistent vomiting and focal seizures. On examination, she was found to have a right-side hemiparesis. Brain imaging showed intense nodular leptomeningeal enhancement, hydrocephalus, a hypolucent lesion in the left basal ganglia, arterial stenosis and vasculitis, and an old ischemic insult. The patient was initially diagnosed with an acute ischemic stroke and was treated with aspirin and antiepileptic drugs. The patient's condition failed to improve despite initial treatment, leading to further diagnostic procedures. The results uncovered a diagnosis of TBM. The case highlights the importance of considering TBM as a possible cause of neurological symptoms, especially during the coronavirus disease 2019 (COVID-19) pandemic where similar symptoms can be present in cases of neurological complications of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and multisystem inflammatory syndrome in children (MIS-C).

Introduction. This article details the development and use of a low-cost, custom RMST device for a patient with long COVID who had received positive airway flow support during ICU treatment. By sharing our successful management of respiratory muscle weakness in a severe COVID-19 patient, we aim to contribute to the broader conversation around effective long COVID management. Case Description. A patient with respiratory muscle weakness used a hospital-made RMST device. The training involved ten short forced exhalations per cycle for five cycles, followed by five long forced exhalations held for five seconds. Additionally, the patient learned lower abdominal and box breathing techniques. The patient showed significant improvement, using the RMST device without supplemental oxygen within 24 hours and completely weaned off by day 5. By discharge, the patient could complete the RMST exercise regime and achieved 290 meters in the 6MWT. After six weeks of outpatient therapy, the patient used the RMST device at 80 cm H₂O and increased their 6MWT distance to 390 meters. Device Description. The RMST device was designed for in-house production with a 3D-printed PETG cap, base, and plunger, and a standard pen spring. Its design mimicked a standard PEEP valve with a different geometry. The spring closed the valve until a pressure threshold was reached, allowing airflow. The adjustable pressure threshold ranged from -40 to +40 cm H₂O, calibrated in 10 cm H₂O increments by measuring displaced water column height. Discussion and Limitation. COVID-19 can cause long-term respiratory issues needing proper management and rehabilitation. Inspiratory muscle training benefits those recovering from severe COVID-19 who were weaned from mechanical ventilation. However, the device's design and production method are unsuitable for large-scale and commercial production. Rehabilitation centers should prepare for postintensive care syndrome in post-COVID-19 individuals, with interprofessional teams addressing various recovery aspects. Early medical attention and therapy can improve patients' quality of life.

Introduction: Basidiobolomycosis is a rare fungal infection caused by an environmental saprophyte, Basidiobolus ranarum. It usually presents as a chronic subcutaneous infection; however, few cases of gastrointestinal involvement have been reported. The exact transmission route of gastrointestinal cases is not clear, and diagnosis always requires a high index of suspicion because it tends to mimic other inflammatory and neoplastic conditions. Case Report. A 31-year-old immunocompetent woman presented with abdominal pain and an advanced colon mass. She was completely well until about 1.5 years ago, when she underwent bariatric surgery. One year after surgery, chronic abdominal pain developed. A colonoscopy showed an ulcerative lesion in the descending colon, and the biopsy was in favor of ulcerative colitis. Despite immunosuppressive treatment, there was no improvement, and with worsening symptoms, more investigations revealed advanced colon mass with entrapment of the stomach and pancreas. Colonic mucosa biopsy and trucut biopsy of the mass showed just necrosis and acute inflammation; thus, she underwent exploratory laparotomy with colectomy, partial gastrectomy, distal pancreatectomy, and left nephrectomy. On pathologic examination, there was granulomatous inflammation plus the Splendore-Hoeppli phenomenon around fungal hyphae, which was diagnostic for gastrointestinal basidiobolomycosis. Previous pathology slides were reviewed and revealed a tiny focus of basidiobolomycosis. After 6 months of treatment with itraconazole, she is relatively well without any clinical or radiologic abnormalities.

Conclusion: Our case highlights the significance of suspicion for basidiobolomycosis in ulcerative and necrotic lesions with increased eosinophils, especially in the presence of abdominal mass and systemic eosinophilia.

Aripiprazole is an atypical antipsychotic medication indicated for the treatment of schizophrenia and bipolar disorders. The drug has been shown to exhibit acceptable efficacy and is often preferred as a first-line psychiatric treatment option owing to its lower incidence of adverse effects. While first-generation antipsychotics are associated with extrapyramidal syndrome (EPS), atypical antipsychotics such as aripiprazole are generally associated with a lower frequency of EPS. In this case, we present a 31-year-old woman with a history of bipolar disorder who developed EPS after ingesting 200 mg of aripiprazole. Fortunately, her symptoms improved with the administration of biperiden, and she was discharged five days after ingestion. This case highlights the potential for significant consequences associated with aripiprazole, even within its therapeutic index.

Dravet syndrome is a rare and severe form of epilepsy that usually emerges in infancy. It is characterized by diverse seizure patterns, cognitive regression, motor impairments, and behavioral abnormalities. The majority of patients with this condition have mutations involving the voltage-gated sodium channel alpha (I) gene SCN1A. We present a detailed account of a two-year-old child with a history of recurrent seizures since the age of 4 months. Genetic testing was performed which revealed a heterozygous pathogenic variant, confirming the diagnosis. The patient was managed successfully by a multidisciplinary approach involving neurologists, developmental specialists, and physical therapists.

Background: Duodenal atresia or stenosis are different degrees of the same abnormality. They usually occur at the level of the ampulla of Vater and are thought to be an embryologic defect during the development of the foregut, leading to abnormal recanalization. Complete duodenal atresia is usually symptomatic in the early neonatal period, while partial obstruction (web, stenosis) may have a late presentation and a more challenging diagnosis such as in our case. Case Presentation. The patient, a 16-year-old girl, presented with abdominal pain, recurrent vomiting, and growth failure. An upper GI study with barium showed an image compatible with gastroptosis. Further diagnostic procedures confirmed a rare finding such as congenital duodenal stenosis. She underwent surgical intervention, and the recovery period was uneventful.

Conclusion: Gastroptosis is not diagnostic for a particular disease. This rare radiological finding in children may obscure uncommon diagnosis, such as congenital duodenal stenosis, which can present a diagnostic challenge beyond early childhood.