Rare Cause Research Articles

Unraveling the Enigma: Omental Torsion in a Patient with Non-specific Abdominal Pain

Omental torsion is a rare cause of acute abdominal pain, with an incidence rate of less than 0.37%. Due to its non-specific symptoms, it is often confused with other causes of acute abdominal pain, such as acute appendicitis. In this case presentation, we will discuss a 26-year-old male patient who presented to the emergency department with complaints of abdominal pain and was diagnosed with perioperative omental torsion. The diagnosis of omental torsion is challenging due to its non-specific symptoms. When a diagnosis cannot be established in acute pain, diagnostic laparoscopy should not be delayed. Omental torsion can be easily treated with laparoscopic omentectomy.

Surgical management of urethral obstruction secondary to perineal liposarcoma in a dog: a case report

BackgroundSwelling of the perineal region in male dogs is most commonly caused by a perineal hernia. Clinical signs associated with perineal hernia are constipation, tenesmus or stranguria. This case report documents a rare cause of perineal swelling created by the growth of a malignant tumour leading to urethral obstruction and subsequent stranguria.Case presentationAn 11-year-old neutered male German Shepherd was presented for swelling in the perineal region and stranguria for three days. Complete blood count and serum biochemistry were unremarkable. Ultrasound revealed a heterogeneous mass in the perineal region. Retrograde urethrography showed a severe narrowing of the urethra caudal to the pelvis. A fine-needle aspirate of the mass was highly suspicious for liposarcoma. Staging was performed by computed tomography (CT) of the thorax and abdomen. Total penile amputation in combination with pubic-ischial pelvic osteotomy, transposition of the remaining urethra through the inguinal canal, V-Y-plasty cranial to the prepuce and preputial urethrostomy were performed to remove the tumour. Histopathology confirmed a well-differentiated liposarcoma with complete histological margins. Six months after the surgery the dog was doing well and there were no signs indicating local tumour recurrence.ConclusionsWide surgical excision is generally recommended for soft tissue sarcomas, however this is sometimes not feasible for large tumours. In the case reported here, tumour resection was achieved by a combination of several surgical techniques with a good clinical outcome.

Daratumumab therapy in a pediatric case of C3 nephritic factor-positive proliferative glomerulonephritis with monoclonal IgG deposits.

Proliferative glomerulonephritis with monoclonal immunoglobulin deposits (PGNMID) is an exceedingly rare cause of glomerulonephritis among children for which prognosis is generally poor, with low incidence of remission and high rates of recurrence after transplant. While there are more cases reported in the adult literature, substantial differences in pediatric vs. adult PGNMID render it essential that we further characterize pediatric cases to optimize management. We report the case of a 12-year-old male presenting initially with edema and hypertension who was subsequently diagnosed with IgG3/Kappa-dominant PGNMID. In the absence of any proven therapy and though without a detectable clone, he was empirically treated with daratumumab with positive effect to date. This is the first reported case of daratumumab monotherapy in pediatric PGNMID, as well as the first PGNMID case to detect presence of C3 nephritic factor.

Gallstone ileus, a rare cause of intestinal occlusion. A case report

Gallstone ileus, a rare cause of intestinal occlusion. A case report

Subclinical Echocardiographic Parameters and Biomarker Approach to Characterize the Pathophysiology of Carcinoid Syndrome

Introduction: Carcinoid heart disease is a rare cause of right-sided valvular dysfunction, an important complication in patients with carcinoid syndrome. Objectives: We aim to present our own experience regarding early myocardial dysfunction in patients with carcinoid syndrome. Methods: 64 patients (35-90 year old, 62,5% female, 37,5% male patients) with carcinoid syndrome were evaluated between October 2017 and June 2021. All patients underwent two-dimensional echocardiography with additional tissue Doppler and speckle-tracking techniques. For all patients there were measured urinary level of 5- hydroxyindolacetic acid, serotonin and NT-proBNP values. Results: The following echocardiographic features: global longitudinal strain of both ventricles, mean systolic velocity of the left ventricle, systolic velocity of the free wall of right ventricle, correlated with high values of specific biomarkers: serotonin, and urinary 5-hydroxyindolacetic acid, and also with the presence of hepatic metastases and poorly differentiated tumors. Discussion: In this study we identified several patients with early myocardial dysfunction due to carcinoid syndrome, representing a predictive model of poor prognosis, requiring further investigations. Conclusion: Echocardiographic assessment based on the measurement of systolic velocities, as well as the global longitudinal strain of both ventricles, together with specific biomarkers may contribute to better recognition of carcinoid heart disease in clinical practice, but this needs validation through further studies enrolling larger number of patients.

Autosomal dominant chronic tubulointerstitial nephropathy: do not forget amyloidosis

Amyloidosis is a rare cause of inherited kidney disease, with most variants responsible for prominent glomerular involvement. In this issue, Kmochová etal. reported the first description of autosomal dominant medullary amyloidosis due to apolipoprotein A4 variants, resulting in slowly progressive chronic kidney disease with minimal proteinuria. Combining next-generation sequencing with histopathological studies incorporating Congo red staining and mass spectrometry should be considered in the diagnostic workup of hereditary tubulointerstitial disorders not identified after routine genetic testing.

Successful surgical treatment of impending paradoxical embolism with pulmonary embolism and myocardial infarction

BackgroundParadoxical embolism is a rare cause of acute arterial occlusion. This phenomenon arises when embolic material travels from the venous system crosses an abnormal shunt such as patent foramen ovale, atrial septal defects, ventricular septal defects, or pulmonary arteriovenous malformations, into the arterial system. Impending paradoxical embolism refers to the presence of an entrapped thrombus in the patent foramen ovale.Case presentationWe report a case of a 68-year-old female patient who presented with an impending paradoxical embolism, alongside both concomitant pulmonary embolism and myocardial infarction with ST-segment elevation. Swiftly addressed through emergency cardiac surgery and systemic anticoagulation, the patient’s condition was effectively treated.ConclusionsWhile the ideal treatment strategy for impending paradoxical embolism remains a topic of debate due to limited and inconclusive evidence, emergent open surgery should be contemplated in patients as it signifies a critical clinical emergency.

Methimazole as a rare cause of hepatitis in childhood: a case report

Methimazole as a rare cause of hepatitis in childhood: a case report

Cases with Recurrent Hospitalization due to Unexplained Ileus: Paraduodenal Hernia

Internal hernia is one of the rare causes of surgical pathologies in the abdomen.Paraduodenal hernia (PDH) is the most frequent subtype of internal hernia. There are no specific clinical and laboratory findings for diagnosis. This situation may cause delays in diagnosis and adverse clinical outcomes in patients. Computed Tomography (CT) is an imaging method that can help in the diagnosis of internal hernia. A case report of our two patients who were followed up in the clinic, who had been hospitalized with similar complaints in the past and operated for paraduodenal hernia (PDH) has been prepared. Internal herniation is one of the pre-diagnoses that should be kept in mind, especially in the history of unexplained and recurrent hospitalization in patients with abdominal pain and signs of intestinal obstruction. Observation of hernia sac on CT and observing small intestinal loops trapped in it are the only objective findings that can help us in the diagnosis of internal herniation.

Hypercalcemia with the development of chronic kidney disease, nephrolithiasis after intramuscular injection of oil solutions

One of the rare causes of PTH-independent hypercalcemia can be anabolic oil solution, injected intramuscularly by bodybuilders, along with anabolic hormones, in order to make the muscles more prominent. Here is the clinical report of a 43-year-old patient who used Synthol oil solution at the age of 25–30 years is presented. He had long-term undiagnosed hypercalcemia that manifested with nephrolithiasis and progressing chronic kidney disease (CKD). For the first time hypercalcemia was diagnosed at the age of 37, but left omitted. In 2023 (43 years) the laboratory findings sowed extremely high calcium level (4.26 mmol/l) with decreased PTH and CKD C4. Malignancy hypercalcemia was excluded. With this case, the rare cause of hypercalcemia has been proven – intramuscular oil injection resulting in nephrolithiasis, nephrocalcinosis and CKD. Treatment with glucocorticoids has demonstrated positive effect, similar to the ones of granulomatous diseases and hypercalcemia. The mechanisms of PTH-independent hypercalcemia development and differential diagnosis are currently being discussed. The presented clinical case of a rare cause of hypercalcemia may be useful for doctors of various specialties: endocrinologists, therapists, urologists, dermatologists, etc.

A rare cause of dizziness: Hakim-Adams syndrome

It was first reported in 1965 by Hakim, Adams et al. the term normal pressure hydrocephalus (NPH) was defined by. Because of this definition, it was recorded in the literature as Hakim-Adams syndrome. A 32-year-old male patient was admitted to the green area of our emergency department with a complaint of dizziness. In the physical examination of the patient, no pathological findings were found other than mild ataxia. The brain computed tomography (CT) report revealed that the 3rd ventricle and lateral ventricles were dilated and there was a space-occupying lesion at the 4th ventricle level. The earliest sign of normal pressure hydrocephalus (NPH) is no impairment in walking. It usually manifests itself in older ages. Thanks to the anamnesis and physical examination taken in the emergency departmant and the skeptical approach, further examination was requested for the patient.

Review of Peripheral Blood Eosinophilia: Workup and Differential Diagnosis

Eosinophils are a type of granulocyte key to immune system modulation seen in a number of disease processes. Nearly every major organ system can be connected to peripheral eosinophilia through a number of different disease processes, ranging from benign conditions to malignancy. In this paper, we review both common and rare causes of peripheral eosinophilia, their symptoms, and a framework for the workup of peripheral eosinophilia of unknown etiology.

Haemophilus influenzae endocarditis: a case report and literature review.

Haemophilus influenzae (HI) is an exceedingly rare cause of infective endocarditis (IE). We present a case of a 90-year-old female diagnosed with HI-IE involving the native tricuspid valve in the absence of traditional risk factors for right-sided endocarditis. She was treated with a 5-week course of IV Ampicillin from negative cultures and suffered no complications. We also conducted a thorough literature review through PubMed and Google Scholar, which yielded a mere 15 reported cases of HI-IE. Fourteen of the reported HI-IE cases included epidemiological data, showing no gender predominance. The mean age of the subjects was 39.5, with the mitral valve being the most implicated (64%) and tricuspid valve involvement being rare (21%). Native tricuspid valve IE is an uncommon entity, especially in the absence of IV drug use. Haemophilus influenzae is an extremely rare cause of IE, with a literature review showing merely 15 reported cases. This article cites the 16th case of HI-IE published in the literature.

Robotic transabdominal preperitoneal repair for bilateral obturator hernia: a video vignette.

Obturator hernias (OHs) are a rare cause of bowel obstruction that requires immediate surgical intervention to prevent morbidity and mortality. Patients with OHs present with acute intestinal obstruction secondary to incarceration, with a high morbidity and mortality rate due to delayed diagnosis and treatment. Although several surgical approaches have been reported, a standard approach for OH treatment has not yet been established. Here, we report the case of a 74-year-old woman who presented with bilateral OHs. The patient presented at our institution with pain in the left lower quadrant. Computed tomography revealed preperitoneal fat in both obturator foramen. Robotic transabdominal preperitoneal (R-TAPP) bilateral OH repair was performed, and a mesh was placed over both obturator foramen. The patient recovered without postoperative complications and was discharged on postoperative day 2. This suggests that the R-TAPP approach is safe for OH repair without incarceration.

Adrenocorticaal carcinoom als uiterst zeldzame oorzaak van psychose, hypokaliëmie en metabole alkalose

Adrenocortical carcinoma: an extremely rare cause of psychosis, hypokalemia and metabolic alkalosis Adrenocortical carcinoma (ACC) is an utmost rare malignancy with a generally poor prognosis due to the fact that most ACCs are diagnosed in a late stage. The case of a 40-year-old female patient diagnosed with liver-metastasized ACC after an acute psychotic episode in the presence of severe hypokalemia and metabolic alkalosis is presented. Despite the treatment with ketoconazole followed by an adrenalectomy and adjuvant therapy with mitotane, the patient showed rapid clinical deterioration. Palliative care was initiated about a month after her admission. She died a few weeks later. This article summarizes the current literature on the epidemiology, clinical presentation, diagnosis, treatment and prognosis of ACC.

Case Report: The Diaphragmatic Hernia: A Rare Cause of Intestinal Obstruction

We present the case of a 22-year-old patient, with congenital diaphragmatic hernia, diagnosed at an advanced stage due to an occlusive syndrome observed on the CT scan, revealing colonic distension upstream of a strangulated Bochdalek's diaphragmatic hernia. The patient underwent laparotomy, where the hernia was reduced, and the diaphragmatic rupture was closed. The purpose of this article is to highlight a rare cause of intestinal obstruction, which is strangulated diaphragmatic hernia, when the diagnosis and detection of complications are confirmed through CT scan, allowing for early management.

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome sequencing revealed a novel heterozygous SYNE2 splice site mutation (NM_182914.3:c.15306+2T>G). This mutation is likely to result in the loss of the donor splice site in intron 82. While a diagnostic muscle biopsy showed unspecific myopathological findings, immunofluorescence analyses of skeletal muscle and dermal cells derived from the patient showed nuclear shape alterations when compared to control cells. In addition, a significantly reduced nesprin-2 giant protein localisation to the nuclear envelope was observed in patient-derived dermal fibroblasts. Our findings imply that the novel heterozygous SYNE2 mutation results in a monoallelic splicing defect of nesprin-2, thereby leading to a rare cause of myalgia and hyperCKemia.

A rare case of Radius Maumenee syndrome with unilateral open angle glaucoma

Elevated episcleral venous pressure (EEVP) is a rare but important cause of raised intraocular pressure. The resultant glaucoma is often severe and refractory to routine anti glaucoma treatment. Usually it occurs due to arteriovenous fistulas or venous congestion. This entity is important to detect as it may be associated with serious pathologies like retrobulbar tumor, cavernous sinus thrombosis, mediastinal tumor to name a few. EEVP is considered idiopathic after ruling out such disorders. Here, we have described idiopathic EEVP also known as Radius-Maumenee syndrome along with a detailed diagnostic and therapeutic approach of management.

Marked hypertrophy trigeminal nerves in CIDP: a rare cause of VI nerve compression.

Marked hypertrophy trigeminal nerves in CIDP: a rare cause of VI nerve compression.

A special case of acute portal vein thrombosis

Among the risk factors and underlying etiology of acute portal vein thrombosis, viral hepatitis is an extremely rare cause. We report a case of a young healthy 40-year-old male who was diagnosed with acute hepatitis A virus infection and presented with acute portal vein thrombosis. This article describes the possible pathophysiological mechanisms, clinical symptoms, and treatment of acute portal vein thrombosis in this patient. Based on this patient’s history and treatment, we encourage testing for hepatitis A serological markers in the emergency department in a population with recent hepatitis A exposure risk factors and concurrent unexplained acute portal thrombosis.