SAGE Open Medical Case Reports最新文献

Ebstein's anomaly, also known as Ebstein's malformation, is a congenital heart defect that occurs in about 0.005% of live births and accounts for 0.3-0.6% of all congenital heart disease. It is due to delamination failure at embryologic state, or displacement of the leaflets from the ventricular myocardium. In people with Ebstein's abnormality, the tricuspid valve does not close properly, leading to regurgitation. Here is the case report of a 24-year-old female patient who was diagnosed with Ebstein's anomaly 5 years back and had been on follow-up. However, she missed appointments and discontinued the medication for 3 months. She presented with shortness of breath for 5 days, which occurred at rest, and generalized body weakness. Since she was in critical condition, she was admitted to the intensive care unit of the hospital. Subsequently, baseline and diagnostic investigations were done. The health care team initiated immediate treatment, and all available treatments were administered, and the patient's condition improved. In this report, the first presentation of the woman was during adulthood and it was with heart failure even though most patients with Ebstein's anomaly present during the early age of their life and with arrhythmia. Therefore, the main aim of this case report is to show the atypical presentation of Ebstein's anomaly.

While no single method effectively prevents bone loss after spinal cord injury (SCI), consistent participation in activity-based therapies can help reduce it in individuals with chronic complete SCI. This case report presents the results of multiple dual-energy X-ray absorptiometry scans conducted over 14 years, highlighting changes in bone mineral density (BMD). The individual studied maintained a healthy lifestyle, preventing secondary complications associated with SCI. The focus is on the participant's engagement in various therapies, including functional electrical stimulation, lower-extremity cycling, and walking with a robotic exoskeleton. Remarkably, the findings indicate that, rather than losing BMD, this individual not only maintained but, in some areas, also even increased their BMD in the lower extremities. This observation contradicts the expected trend for individuals with chronic complete SCI, suggesting that activity-based therapies may yield positive outcomes.

May-Hegglin anomaly (MHA) is a rare autosomal dominant disease associated with a mutation in the MYH-9 gene. It is characterized by macrothrombocytopenia and neutrophils with abnormal cytoplasmic inclusions. Clinical features of this disease include hearing loss, early cataracts, and renal failure. We present two interesting cases of renal injury attributed to MHA. The first is a 52-year-old Hispanic female with MHA-associated nephropathy and thrombocytopenia complicated by Stage 3 chronic kidney disease (CKD) and hypothyroidism. She was found to have a pathogenic MYH-9 heterozygous mutation with associated clinical characteristics. Due to her thrombocytopenia from MHA, patient is not a candidate for kidney biopsy. She has been treated with SGLT-2 inhibitors, Angiotensin Receptor Blockers (ARBs) for managing her Stage 3b CKD and Synthroid^® for hypothyroidism. Despite these treatments, she continues to have low platelet counts, proteinuria, and progressive CKD. Our second case highlights a 39-year-old white female with MHA associated with focal segmental glomerulosclerosis diagnosed at the age of 15 on renal biopsy. She also has thrombocytopenia and mixed connective tissue disease with rheumatoid arthritis and systemic lupus erythematosus clinical characteristics. She is currently on a regimen of methotrexate, Xeljanz, and IVIG for her rheumatological diseases. Her kidney function has remained stable on Angiotensin Converting Enzyme Inhibitors (ACEi) with hydrochlorothiazide and as needed loop diuretics for edema. These cases illustrate the challenges of diagnosing and managing renal complications associated with MHA due to the MYH-9 gene mutation. Chronic thrombocytopenia in both patients restricts the use of invasive diagnostic procedures, such as biopsies, which are critical for confirming the relationship between nephropathy and MHA, and for guiding further treatment. As such, these cases stress the importance of genetic testing as a key tool in diagnosis and emphasize the difficulties in managing patients with suspected MHA-associated nephropathy and thrombocytopenia.

Invasive fungal infections are considered a threat to hematological malignancy patients (HM). We report here a rare case of pulmonary aspergillosis in a patient diagnosed with leukemia at King Abdulaziz University Hospital. The patient received three cycles of chemotherapy and presented with febrile neutropenia and his fungal culture was repeatedly negative while signs of aspergillosis in a computed topography (CT) scan were evident. The patient was successfully recovered after 6 weeks of voriconazole treatment.

Contactin-associated protein (CNTNAP1) gene mutations have been reported in cases of congenital hypomyelinating neuropathy (CHN), a rare hereditary neuropathy. We present a case of a term male infant born at 39 weeks 4 days with respiratory distress, impaired swallow function, and hypotonia. Neurological workup for structural, autoimmune, neuromuscular, and metabolic etiologies was negative and whole exome sequencing revealed a novel mutation in the CNTNAP1 gene, consistent with a diagnosis of CHN3. While CHN3 cases with mutations in the same domain have required long-term respiratory support, our patient, now 2 years old, has not required respiratory support since his initial birth hospitalization. Neurologically, he now has central hypotonia with hypertonia in the bilateral extremities and global developmental delay. This case adds to a growing number of identified pathological CNTNAP1 mutations and their heterogenous clinical phenotypes and highlights a rare neurological etiology for respiratory distress in newborns.

Pulmonary veno-occlusive disease has a significantly worse prognosis than idiopathic pulmonary arterial hypertension. According to a case series from France, the median survival time from diagnosis to death or lung transplantation was only 1 year, and in a more recent analysis, pulmonary arterial hypertension therapy had no significant effect on survival. There are case reports and case series describing both beneficial and adverse effects of pulmonary arterial hypertension-related medications. The most life-threatening complication of such a therapy is pulmonary oedema. In the long term, lung transplantation remains the best treatment option for suitable patients. However, elderly patients with concomitant or precipitating malignant disease are not considered transplant candidates. We describe a 59-year-old pulmonary veno-occlusive disease patient with multiple myeloma in World Health Organisation functional class IV who was successfully treated with sildenafil for almost 5 years.

Complex regional pain syndrome (CRPS) is a debilitating condition that typically affects one limb, often triggered by acute trauma. Symptoms include persistent pain, skin sensitivity, swelling, and mobility issues. While various therapeutic approaches exist, evidence for the effectiveness of multimodal treatments is limited. A 25-year-old female presented with CRPS following a sciatic nerve injury due to an intramuscular injection. She experienced severe pain, swelling, and limited mobility in her left ankle. Physical therapy assessment revealed significant weakness and limitations in both active and passive range of motion due to pain and swelling. The patient underwent a holistic treatment consisting of osteopathy and rehabilitation exercises over 36 sessions spanning 9 months. Significant improvements were observed after treatment, including reduced pain, increased mobility, and improved nerve conduction. These findings suggest that a multimodal therapeutic approach may be beneficial in managing CRPS and improving patients' quality of life.

Meningitis is a severe infection of the central nervous system. Cryptococcus neoformans is an uncommon fungal agent that can cause meningitis and often manifests unusual symptoms. While this infection is more prevalent in immunocompromised patients, it can also affect immunocompetent patients. A 33-year-old housewife living in the village visited our hospital emergency department complaining of a severe headache and mild fever for 7 days. We diagnosed an unusual occurrence of cryptococcal meningitis with infarction of the splenium of the corpus callosum in a patient who appeared to have a healthy immune system. This disease should be considered in immunocompetent individuals with persistent headache or other neurological findings, even in the absence of overt risk factors.

A prostate abscess is a rare complication of prostatitis, typically observed in patients with conditions such as immunodeficiency, diabetes, urinary tract abnormalities, and chronic indwelling catheters. We present a 60-year-old patient, admitted to the hospital presenting progressively with dysuria for more than 1 year, accompanied by frequent urination, urgent pain, and urinary retention, intermittent fever for 20 days. A multi-parametric magnetic resonance imaging (mpMRI) scan of the abdomen/pelvis showed a prostatic abscess. Initially, meropenem treatment was not effective. Subsequently, the patient underwent an artificial intelligence-assisted mpMRI-TRUS (transrectal ultrasonography) real-time-guided puncture drainage. The results of purulent drainage cultures were positive for K. pneumonia, sensitive to bacillosporin. Thus, the combination treatment of sensitive antibiotics and transperineal drainage was conducted. The patient was followed up for 6 months, the outcome was satisfactory. Timely and appropriate treatments (such as the combination of sensitive antibiotics and artificial intelligence-assisted mpMRI-TRUS real-time-guided transperineal puncture drainage) are crucial for both patient survival and the prevention of complications.

Thoracic outlet syndrome (TOS) is characterized by intractable cervicobrachial pain caused by strangulation of the brachial plexus and subclavian artery by structures of the superior thoracic outlet. We describe percutaneous epidural adhesiolysis for refractory pain due to TOS. A man in his 40s had received nerve block therapy for right upper extremity pain of unknown origin for 5 years. Although imaging findings were negative for TOS, reproducible pain relieved by injection of a local anesthetic into the anterior scalene muscle suggested TOS due to compression by the muscle. Subsequently, since nerve block treatment had only temporary effect and the pain gradually worsened, right T1 epidural adhesiolysis was performed. Thereafter, the pain improved from a numerical rating scale score of 8-9/10 to 2-3/10, continuing for about 3 months. Epidural adhesiolysis was remarkably effective in treating intractable pain caused by TOS due to strangulation of the brachial plexus by the anterior scalene muscle.