Journal of Medical Case Reports最新文献

Background: Sickle cell disease is a genetic disease with multisystem involvement. More than 300,000 children are born with sickle cell disease globally, with the majority of cases being in Sub-Saharan Africa. In Uganda, about 20,000 children are born with sickle cell disease annually, with more than three-quarters dying before the age of 5 years. Those who live beyond 5 years tend to have poor health-related quality of life, numerous complications, and recurrent hospitalizations. In developing countries, most symptomatic patients are diagnosed early in childhood. Few of those not screened in childhood tend to present in adulthood with variable symptoms.

Case presentation: This case reports a 22-year-old African male patient of Toro tribe who presented with paroxysms of multiple joint pain associated with generalized body malaise for about 6 months. He presented as a referral from a lower facility with an unestablished cause of symptoms. Physical examination revealed conjunctival pallor, icterus, and tenderness of joints. Cell counts showed anemia and hemoglobin electrophoresis revealed 87% of sickled hemoglobin.

Conclusion: This case report pinpoints the importance of considering the diagnosis of sickle cell disease even in adults presenting with symptoms of sickle cell disease. It also adds to the relevance of screening at all age groups, especially in high-endemic regions such as Africa and Asia.

Background: Cavernous hemangioma is a congenital insidious disease that can occur in any part of the central nervous system. In clinical practice, cavernous hemangioma is mostly found in the brain and rarely in the spinal cord. This study describes a case of a 34-year-old Chinese man of Han ethnicity with lumbar intramedullary cavernous hemangioma. On admission, lumbar intramedullary hemorrhage was observed in the patient, as well as a spindle-shaped hematoma sign was detected on the spinal magnetic resonance imaging. We suspected that the spinal hemorrhage could be associated with spinal cord cavernous hemangioma. The patient was started on dehydration and glucocorticoid therapy of mannitol on the day of admission and was diagnosed with cavernous hemangioma on the basis of his magnetic resonance imaging presentation and spinal cord histopathology results. However, there was no significant improvement in clinical manifestations following conservative treatment. It was exciting that the patient's condition improved after the surgical removal of hematomas.

Conclusion: Clinicians should consider lumbar intramedullary cavernous hemangioma in the differential diagnosis of early spinal cord hemorrhage with a spindle-shaped hematoma sign on the spinal magnetic resonance imaging.

Background: Diamond-Blackfan anemia is a rare congenital disorder characterized by erythroid hypoplasia and is associated with mutations in ribosomal protein genes. This case report describes a novel variant in the RPS26 gene, which, to our knowledge, has not been previously documented. Reporting this case adds to the understanding of Diamond-Blackfan anemia's genetic diversity and phenotypic manifestations.

Case presentation: A 16-month-old Turkish girl presented with pallor and macrocytosis. There was no familial history of anemia. Hemoglobin electrophoresis showed hemoglobin F at 10.8%, hemoglobin A2 at 1.7%, and hemoglobin A at 87.5% (normal range 0-2%). Peripheral smear demonstrated macrocytosis and reticulocytopenia. Bone marrow examination revealed marked erythroid hypoplasia and dyserythropoiesis. Targeted next-generation sequencing, which included genes such as RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, and TSR2, identified a heterozygous c.221G>T (p.C74F) variant in the RPS26 gene. This variant is reported here for the first time.

Conclusions: The identification of the c.221G>T (p.C74F) variant in RPS26 provides new insights into the genetic underpinnings of Diamond-Blackfan anemia. This finding underscores the importance of genetic testing in diagnosing Diamond-Blackfan anemia and highlights the potential for new mutations to contribute to the clinical presentation of the disease. Further research into RPS26 mutations may enhance the understanding of Diamond-Blackfan anemia's pathogenesis and lead to improved diagnostic and therapeutic strategies.

Introduction: Myasthenia gravis, which initially presents with prominent distal muscle weakness, is rare and is referred to as distal myasthenia gravis. Despite its clinical significance, the diagnosis of distal myasthenia gravis is often delayed or missed owing to mild and atypical symptoms.

Case report: We report the case of a 52-year-old ethnic Han woman who presented with task-related isolated transient right-hand weakness that began 15 years ago and lasted for 9 years without aggravation or improvement. In subsequent years, she developed right-hand stiffness with limited dexterity. More recently, this developed into bilateral hand weakness and simultaneous generalized weakness with ambulation, prompting suspicion of myasthenia gravis. Under Hertz repetitive nerve stimulation, the right facial nerve, right accessory nerve, right ulnar nerve, right radial nerve, and right median nerve showed decrements between 19.5% and 35.4%. Tests for anti-acetylcholine receptor antibodies were positive. The patient was diagnosed with distal myasthenia gravis, which evolved into generalized myasthenia gravis.

Conclusion: Distal myasthenia gravis can present with isolated and transient hand weakness as a lone symptom, and can persist for years before typical myasthenia gravis symptoms appear. The inclusion of myasthenia gravis in the differential diagnosis is necessary in patients with isolated distal weakness.

Background: The prevalence of placenta accreta spectrum is on the rise, primarily as a consequence of an increasing number of Cesarean sections. Nevertheless, uterine anomalies, particularly uterine septum, pose a notable risk factor for its occurrence. While there are limited case reports documenting the association between uterine septum and placenta adherence, most of these cases have been linked to prior hysteroscopic treatment of the septum. Notably, this case represents the first-reported instance in which a uterine septum was preoperatively diagnosed in association with placenta increta adherent to it, and subsequently managed conservatively.

Case presentation: A 30-year-old pregnant Egyptian female patient, who had undergone two previous cesarean sections, was diagnosed with placenta increta and had an incomplete uterine septum. She was admitted to Elshatby University Hospital in December 2021. During her surgery, it was found that the placenta was adherent to right lower aspect of the septum, as well as the right anterior, lateral, and posterior uterine walls. A conservative surgical approach was scheduled and successfully performed, and 3 months later, an ultrasound examination revealed that the uterus had returned to its normal size, with no evidence of isthmocele or synechiae. The only abnormality noted was the presence of the septum.

Conclusion: Ultrasound plays a crucial role in diagnosing placenta accreta and identifying any additional uterine abnormalities that may guide the planning of conservative treatment. Uterine septum represents a risk factor for placental adherence, as the placenta can indeed become adherent to it. Muscle defects may become apparent following placental separation and can often be effectively managed through the use of running sutures, obviating the need for resection of the affected portion. Trial registration clinicaltrials.gov, registered on 27 April 2021, registration number: NCT04866888, https://clinicaltrials.gov/ct2/show/NCT04866888 .

Background: Orbital apex syndrome is a symptom complex of visual loss and ophthalmoplegia resulting from a disease involving the orbital apex. It can be caused by inflammation, infection, and malignancies. Mucormycosis is an infection caused by filamentous saprophytes of the order Mucorales. It is ubiquitous, and the infection can occur from ingesting contaminated food, inhaling spores, or injecting the disrupted skin or wounds. It is mainly a disease of the immunocompromised, affecting patients with poorly controlled diabetes, organ transplant recipients, and patients with hematological malignancies. We present the case of a man with orbital apex syndrome resulting from rapidly spreading rhino-ocular cerebral mucormycosis, who had a poor outcome despite an aggressive combined medical and surgical treatment. This is an unusual cause of orbital apex syndrome.

Case presentation: A 46-year-old Bangladeshi man presented to the emergency department with a history of toothache and pain in the left eye. On examination, the patient had a left-sided periorbital edema, ptosis, and proptosis. He had complete ophthalmoplegia and absent direct pupillary response in the left eye. Magnetic resonance imaging of the brain and orbit showed bilateral ethmoidal, left frontal, maxillary, and sphenoidal sinusitis with left orbital cellulitis. His left orbit was surgically decompressed and histology confirmed mucormycosis. Despite aggressive treatment, the patient had only a partial improvement in his symptoms.

Conclusions: Mucormycosis is a rare disease that can easily be misdiagnosed, leading to delayed treatment and disease dissemination. Clinicians must be suspicious of mucormycosis in patients presenting with multiple cranial nerve palsy.

Background: Platinum-based antineoplastic drugs are widely used in the treatment of solid tumors. Carboplatin is a safe and efficacious adjuvant treatment for stage I seminoma following a risk-adapted treatment strategy. It consists in the administration of one or two courses for patients with one or both of rete testis involvement or tumor size more than 4 cm. Carboplatin is used with the purpose of minimizing nephrotoxicity and ototoxicity caused by cisplatin while achieving excellent results. We present a case of carboplatin-induced hematuria that led to an acute kidney injury as a rare complication.

Case presentation: A 48 year-old Caucasian man with no medical history and no history of renal disease presented with a painless testicular mass. He underwent an orchiectomy for stage I testicular seminoma and received one course of adjuvant carboplatin (area under the curve of 7); 2 days later, he developed frank hematuria associated with back pain. The physical examination revealed mild suprapubic tenderness and Goldflam's sign was positive bilaterally. Blood tests did not reveal anemia, his platelet count was normal, and creatinine levels were in range. Due to persisting hematuria requiring continuous bladder irrigation, he was hospitalized to monitor renal function and was initially managed conservatively with intravenous analgesics and adequate hydration. The following day, he developed an acute kidney injury (serum creatinine 1.90 mg/dL, glomerular filtration rate 41 mL/min/m²). Transurethral cystoscopy showed a blood clot on the left urinary meatus, which was irrigated and removed, revealing a clear ureteral jet. With no further measures, creatinine started declining and back pain improved. His acute kidney injury resolved in the following 72 hours. Computed tomography urogram showed a left ureteral ectasia with an enhanced urothelium within the upper and middle ureter, suggesting ureteral obstruction. The patient improved completely and was discharged successfully. On further follow-up 2 months later, a computed tomography urogram showed a complete resolution of obstructive changes.

Conclusions: Hematuria and acute kidney injury are rare but clinically relevant adverse events associated with the administration of carboplatin, regardless of the administered and accumulated dose. It is crucial to recognize this event and start adequate hydration promptly to prevent further kidney damage and the need for more aggressive measures, such as ureteral stenting or percutaneous nephrostomy.

Background: Iridodialysis, the separation of the iris root from the ciliary body, typically results from trauma and can lead to significant visual impairment. This case report is novel as it demonstrates the successful management of iridodialysis using an extended depth of focus intraocular lens in a patient with a slightly irregular pupil.

Case presentation: A 34-year-old Hispanic man presented with reduced vision and pain in his right eye following blunt trauma from a nail at work. Examination revealed a small temporal corneal stromal scar, traumatic posterior subcapsular cataract, two inferior iridodialysis defects, and a superiorly displaced dyscoric oval pupil. Snellen uncorrected distance visual acuity was 20/400. The patient opted for an extended depth of focus intraocular lens implantation to meet his visual demands for distance and intermediate vision without glasses. Cataract surgery with capsular tension ring, extended depth of focus intraocular lens implantation, iridodialysis repair, and suture pupilloplasty were performed uneventfully. At 1 month postoperatively, uncorrected distance visual acuity improved to 20/40, while uncorrected intermediate visual acuity and uncorrected near visual acuity were 20/20. A central, relatively round, and slightly inferiorly peaked pupil was achieved. A steroid response intraocular pressure rise at postoperative month 2 required intraocular pressure-lowering medications, and symptomatic posterior capsular opacity developed at 8 months postoperatively. At 11 months postoperatively, selective laser trabeculoplasty and laser capsulotomy were performed. At 4-year follow-up, visual acuity measurements remained stable, and intraocular pressure was normal without any medication. The patient was satisfied with the visual and cosmetic outcomes.

Conclusion: This case demonstrates that extended depth of focus intraocular lenses can be a viable option for patients with slightly irregular pupils following suture repair of the iris and pupil. The successful visual and cosmetic outcomes in this patient suggest that extended depth of focus intraocular lenses may be considered in similar complex cases, providing a balance of near, intermediate, and distance vision without significant visual disturbances.

Background: Pyridoxamine 5'-phosphate oxidase deficiency is a rare inborn error of vitamin B₆ metabolism that presents with drug-resistant epileptic seizures. However, the condition is responsive to supplementation with the active vitamin B₆ metabolite pyridoxal 5'-phosphate and, in some cases, pyridoxine.

Case presentation: In this case report, a 10-year-old Iranian male of Fars ethnicity came to a regional hospital in Tehran, Iran with a chief complaint of tic-like movement. He had a history of unintentional, repetitive, and stereotypic movements of both arms since the age of 4 years. The physical examination depicted facial dimorphism. During admission, the patient experienced habitual hypermotor seizures and generalized tonic-clonic seizures. Ictal electroencephalography demonstrated a generalized background attenuation and bursts of generalized, predominantly left-sided, biphasic spike-wave complexes. Whole-genome sequencing revealed a pyridoxamine 5'-phosphate oxidase deficiency as the underlying cause of the drug-resistant seizures, resulting in a low serum level of pyridoxal 5'-phosphate. The patient underwent pyridoxine supplementation therapy, which ultimately resolved his seizures. At 6 months, he was seizure free.

Conclusion: Physicians ought to be aware of manifestations of vitamin B6 deficiency such as mimicking tic and consider it in the differential for drug-resistant epilepsy.

Background: Acute right ventricular myocarditis is rare, comprising only 18% of myocarditis cases. Despite being relatively infrequent at 12.4%, dengue-induced myocarditis has a high mortality risk of 26.4%. This report presents a novel case of acute fulminant right ventricular myocarditis due to severe dengue infection, complicated by dual electrical disturbances: complete heart block and ventricular tachycardia.

Case report: A 49-year-old Asian male patient was referred to our hospital with a temporary pacemaker due to a complete heart block. He had a history of recurrent syncope over three days and a fever five days before admission. Initial electrocardiography showed a total atrioventricular nodal block progressing to a high-degree atrioventricular block with a left bundle branch block, indicating an infra-Hisian block. Laboratory findings included thrombocytopenia, elevated troponin, high creatinine, increased liver transaminases, and a positive dengue nonstructural protein 1 test, confirming a diagnosis of dengue infection. Echocardiography showed reduced right ventricular systolic function, normal left ventricular systolic function (ejection fraction: 50%), and dyskinetic intraventricular septum. Coronary angiography revealed normal coronary anatomy. An endomyocardial biopsy was deferred due to severe thrombocytopenia. On the third day, the patient's condition worsened, developing cardiogenic shock and left ventricular systolic dysfunction (ejection fraction: 35%). He subsequently experienced a seizure and slow ventricular tachycardia originating from the right coronary cusp, followed by cardiac arrest. The patient's family claimed not to resuscitate the patient. Furthermore, the patient died shortly after.

Conclusion: This case underscores the critical need for prompt diagnosis and aggressive management of clinically suspected acute fulminant right ventricular myocarditis because complications can rapidly progress to left ventricular systolic dysfunction, leading to cardiogenic shock and sudden cardiac death.