Journal of Medical Case Reports最新文献

Introduction: Melioidosis caused by Burkholderia pseudomallei, often referred to as a great mimicker or escapist, evades not only the immune system, but also all manual identification methods in an under-equipped clinical microbiology laboratory due to its tedious identification process. This is a case report of disseminated melioidosis with septic arthritis, misdiagnosed both clinicoradiologically and microbiologically as disseminated tuberculosis or other bacterial infection.

Case history: A middle-aged Asian diabetic male presented with high-grade fever and breathlessness for 4 days along with left knee and ankle swelling for 40 days. Previous hospitalization records revealed growth of pan-sensitive Acinetobacter spp. from ankle and a chest X-ray suspecting tuberculosis for which antibiotic and antitubercular regimen were initiated. After admission, repeated blood cultures and pus culture (ankle and knee joint) confirmed Burkholderia pseudomallei with VITEK-II automated identification system. Recommended therapy was initiated according to revised Darwin's guideline, leading to gradual cure of the patient.

Conclusion: Misidentification leads to inadequate treatment, as melioidosis medication is different from other bacterial infections. Here initiation of meropenem- and cotrimoxazole-intensive therapy for 4 weeks, and 6-month eradication phase with cotrimoxazole, resulted in gradual recovery of the patient. It took around 21 days of intensive antibiotic therapy to get bacteriological clearance from blood, which signifies the tenacious nature of this infection.

Introduction: Triphallia, a rare congenital anomaly describing the presence of three distinct penile shafts, has been reported only once in the literature. This case report, based on an extensive literature review, describes the serendipitous discovery during cadaveric dissection of the second reported human case of triphallia, distinctly morphologically different from the previous case.

Case presentation: Despite the normal appearance of external genitalia on examination, the dissection of a 78-year-old white male revealed a remarkable anatomical variation: two small supernumerary penises stacked in a sagittal orientation posteroinferiorly to the primary penis. Each penile shaft displayed its own corpora cavernosa and glans penis. The primary penis and largest and most superficial of the supernumerary penises shared a single urethra, which coursed through the secondary penis prior to its passage through the primary penis. A urethra-like structure was absent from the smallest supernumerary penis.

Conclusion: This case report provides a comprehensive description of the anatomical features of triphallia in a cadaver, shedding light on the morphology, embryology, and clinical implications of this anomaly. Without dissection, this anatomical variation would have remained undiscovered, suggesting the prevalence of polyphallia may be greater than expected. The single tortuous urethra present in this case, as well as the supernumerary and blind ending urethras present in many cases of penile duplication, may pose significant risk of infection, sexual dysfunction, subfertility, and traumatic catheterization.

Significance: These findings underscore the importance of meticulous anatomical dissections and may act as a resource for anatomists and those studying genitourinary anomalies. Although we can only speculate as to which functional implications this patient may have experienced, understanding such anatomical variations contributes to both knowledge of human anatomy and clinical management should the condition be encountered in living individuals.

Objective: The objective of the case report is to analyze the clinical manifestations and imaging features of gouty long head of biceps tendinitis, and to summarize the methods and effects of shoulder arthroscopic surgery.

Clinical presentation and intervention: The clinical data of a 39-year-old Han Chinese female with gouty long head of the biceps tendinitis was retrospectively analyzed, and the clinical manifestations, imaging features, and diagnosis and treatment were analyzed. The patient presented with pain and limited movement of right shoulder joint. Computed tomography showed irregular high-density shadows above the glenoid and adjacent to the coracoid process of the right shoulder. Magnetic resonance imaging revealed superior labrum anterior and posterior injury with edema in the upper recess and axillary sac. After arthroscopic surgery, the "tofu residue" tissue of the long head of the biceps was removed, and the postoperative pathological examination proved that it was gout stone.

Conclusion: Gouty long head of the biceps tendinitis is a rare disease. Arthroscopic surgery can probe the structural lesions of shoulder cavity in all aspects, improve the surgical accuracy, and reduce the trauma.

Introduction and importance: Large bowel obstruction caused by volvulus poses a life-threatening risk without immediate intervention. Sigmoid colon volvulus is predominant (43-75%), followed by cecal volvulus 10-52%). Synchronous double colonic volvulus is extremely rare, with limited documented cases in academic literature.

Case presentation: We report a case of synchronous volvulus involving the sigmoid colon and cecum in a 45-year-old male of the Toro tribe from Fort Portal city in western Uganda who presented with acute abdominal pain, distension, and complete constipation for 2 days, accompanied by five episodes of non-bloody feculent vomiting and anorexia.

Clinical discussion: Upon admission, the patient presented with stable vital signs and a mildly tender, tympanic, distended abdomen with absent bowel sounds. Plain radiographs revealed the characteristic "coffee bean" sign, indicative of sigmoid volvulus. Following optimization, laparotomy confirmed synchronous volvulus involving both the sigmoid and cecum. Subsequently, a total colectomy with end ileostomy was performed, after which the patient experienced an uneventful recovery.

Conclusion: Synchronous double colonic volvulus, a rare condition, is frequently overlooked clinically. Timely recognition and intervention are crucial to address diagnostic challenges and prevent potentially fatal outcomes.

Background: Vertebral artery compression syndrome is a rare condition defined as the clinical presentation of dizziness, vertigo, ataxia, dysarthria, dysphagia, progressive or acute paralysis, hemisensory loss, and cervical myelopathy secondary to compression of the medulla and upper spinal cord by the vertebral artery.

Case description: Here we describe a 57-year-old Mexican-American male with bulbar symptoms, positional vertigo, and diplopia. The patient's symptoms were managed through microsurgical decompression of the medulla utilizing a far lateral transcondylar approach. The patient reported clinical improvement on follow-up.

Conclusion: This case underscores the clinical complexity and heterogeneity of this rare neurovascular pathology and the importance of elucidating the pathophysiological mechanisms underlying the symptomatic presentation of vertebral artery compression syndrome.

Background: Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life.

Case presentation: In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests. There was no history of neuro-muscular diseases in the family. Serum CK levels were moderately increased while other blood/urine parameters were normal. Magnetic resonance imaging showed fatty remodeling of the muscles of the back. Histochemical examination of a muscle biopsy revealed the absence of myophosphorylase activity, while gene analysis identified a known early-onset McArdle mutation in the PYGM gene.

Conclusion: This case highlights that the clinical spectrum of PYGM gene mutation typically manifest during adolescence, but it is also a differential diagnosis in late onset muscle disorders and emphases the investigation of the role of ACE inhibitors in this disease.

Background: Pompe disease, a rare autosomal recessive disorder, is caused by mutations in the acid α-glucosidase gene. Pompe disease is a congenital metabolic disorder that affects all organs, particularly the striated muscle and nerve cells. Diagnosis is typically confirmed through enzyme assays that reveal reduced acid α-glucosidase activity. Enzyme replacement therapy utilizing human α-glucosidase is an available treatment option. Timely diagnosis and treatment in the early stages of the disease significantly impact the effectiveness of enzyme replacement therapy in enhancing patient condition. Here, we present a case of a patient with Pompe disease diagnosed 20 years after the onset of clinical symptoms.

Case presentation: A 38-year-old Iranian Baloch woman referred to our rheumatology clinic with progressive muscle weakness presents with a complex medical history. On mechanical ventilation for 12 years, she has endured fatigue and limb weakness since the age of 16, exacerbated following an abortion at 19. Despite undergoing corticosteroid and azathioprine therapies, the suspected diagnosis of inflammatory myopathy did not yield improvement. Hospitalization at 23 due to respiratory failure post-pregnancy led to her continued reliance on a ventilator. A dried blood spot test indicated reduced GAA enzyme activity, confirming a diagnosis of Pompe disease through genetic testing. Treatment with myozyme for 2 years demonstrated limited efficacy, as the patient experienced improved breathing but no significant overall improvement in limb-girdle muscular weakness. This case underscores the challenges and complexities involved in diagnosing and managing rare neuromuscular disorders like Pompe disease.

Conclusion: Early intervention with enzyme replacement therapy plays a crucial role in halting further muscle loss and disease progression in Pompe disease patients. It is important to note that treatment during advanced stages of the disease may not yield substantial benefits. Nevertheless, enzyme instability and denaturation due to temperature and neutral pH levels, along with limited delivery to disease-relevant tissues, can pose challenges in treatment. However, timely diagnosis of Pompe disease is paramount for its effective management and improved outcomes.

Background: Hydatid disease is a zoonotic infection caused by the species Echinococcus that typically affects the liver. Most liver hydatid cysts are asymptomatic at first, but as the cyst grows larger, symptoms, such as compression effects, start to appear. Ultrasonography and computed tomography scans are the widely used diagnostic tools, and surgery is considered the mainstay of treatment.

Case presentation: We present an unusual case of a giant pedunculated hydatid cyst causing inferior vena cava syndrome in a 20-year-old male patient from the Oromo ethnic group from a rural area of the country. Abdominal ultrasound and computed tomography scan confirmed the diagnosis. Our patient underwent radical surgical resection of the cyst and had a good outcome.

Conclusion: Hydatid liver cyst diagnosis needs a high index of suspicion for echinococcal etiology when dealing with a giant liver cyst as it results in grave complications without any manifestations.

Background: Primary aldosteronism is characterized by high plasma aldosterone and low renin. The plasma aldosterone-to-renin ratio is recommended for screening. Severe hydronephrosis leads to renal parenchymal ischemia, resulting in increased renin secretion. Since nonsuppression of renin may cause a negative result in the aldosterone-to-renin ratio test, severe hydronephrosis and primary aldosteronism occurring simultaneously in a patient are challenging to diagnose.

Case presentation: A 54-year-old Chinese man of Han ethnicity was diagnosed with hypertension and severe hypokalemia (minimum 1.57 mmol/L) 13 years prior, and was also diagnosed with severe hydronephrosis due to congenital ureteral stenosis on the left side. His clinical features suggested primary aldosteronism, but the aldosterone-to-renin ratio result of the patient was negative every time he underwent the primary aldosteronism screening test. No further treatment for primary aldosteronism was performed, which led the patient to suffer from severe hypokalemia, such that he was taking 12-15 g/day potassium chloride orally to keep his blood potassium between 3.0 and 3.5 mmol/L (reference value, 3.5-5.5 mmol/L) for 13 years, and the patient needed to be hospitalized in the intensive care unit for rescue several times. At admission, although the aldosterone-to-renin ratio result of the patient was negative, we still did the saline stress test and captopril inhibition test, and the results showed that the plasma aldosterone level was not lower after the test than before the test. Adrenal enhanced computed tomography suggested an adenoma in the left adrenal gland, and the results of adrenal vein sampling suggested that the left side was the dominant side. Therefore, laparoscopic total resection of the left adrenal gland was performed, and 2 weeks later, the patient developed short-term renal function impairment and hyperkalemia, but his renal function and blood potassium returned to normal after treatment that included fluid rehydration. The patient's biochemical test results and clinical symptoms were completely normal after 1 year.

Conclusion: We suggest that for patients with a high suspicion of primary aldosteronism in the clinic, comprehensive analysis must be performed in combination with clinical characteristic assessments, such as severe hydronephrosis, if renin is within the normal range or if the aldosterone-to-renin ratio result is negative at screening and diagnostic tests, and adrenal vein sampling should be performed if necessary. It can help avoid misdiagnoses and contribute to the treatment of patients with severe hydronephrosis and primary aldosteronism.

Background: While statistically rare in comparison to other head and neck tumours, parotid gland swellings are often encountered in clinical practice where one of the primary goals of examination becomes distinction between benign and malignant lesions. Hallmarks of malignancy are characterized by a female preponderance, history of radiation exposure, a positive family history, and clinical features like heterogenous consistency, fixity to skin/underlying tissues and involvement of facial nerve.

Case presentation: Here we present a case of parotid swelling in a 72-year old gentleman from south India that had a curious amalgamation of both benign and malignant features.

Conclusions: While benign, the risk of malignant transformation and rare multicentric occurrence indicates a need to keep basal cell adenoma in mind in case of parotid swellings and their surgical management.