A Case of Unrelenting Facial Swelling

Melkersson-Rosenthal syndrome (MRS) is an uncommon disorder with presenting symptoms that typically involve the face and orofacial structures. It is a difficult diagnosis to make, as it may present with a protracted course of seemingly unrelated dermatological, ocular, and neurological findings. This case report reviews the presentation, workup, and diagnosis of a 75-year-old woman who presented with orofacial swelling, facial palsy, and tongue fissuring that had intermittently recurred over 10 years without a unifying diagnosis. Extensive medical history, photography, laboratory workup, and radiographic imaging were performed to identify the diagnosis of MRS in this patient. Our case highlights the challenge and importance of critically evaluating and consolidating a patient’s history of their present illness, physical examination, and ancillary testing to successfully establish a unifying diagnosis, especially when the diagnosis is relatively rare and diverse in its range of affected populations and symptomatology.

Giant Gastric Folds in Juvenile Polyposis

To advance the diagnostic accuracy of juvenile polyposis syndrome, an important yet often difficult diagnosis, we describe in detail a new and medically significant presentation. This hereditary and high-risk GI cancer syndrome is often associated with hereditary hemorrhagic telangiectasia, as in this 47-year-old female patient with a <i>SMAD4</i> germline pathogenic mutation. Total gastrectomy revealed giant gastric folds with inflamed foveolar hyperplasia consuming most of the gastric cardia and body but sparing the antrum. Together, this gross and histologic pathology mimics Ménétrier’s disease, an exceedingly rare and acquired protein-losing hypertrophic gastropathy. Classical gastric juvenile polyposis almost always and principally involves the antrum with multiple distinctive inflammatory <i>polyps</i> rather than the newly illustrated <i>giant gastric folds</i> of this case. No reports of giant gastric folds in juvenile polyposis have appeared in the literature. The distinction between juvenile polyposis and Ménétrier’s disease is essential due to their disparate clinical outcomes and management. The differential considerations for giant gastric folds and inflamed gastric foveolar hyperplasia are fully reviewed. On the basis of this report, the differential for giant gastric folds must now expand to include juvenile polyposis syndrome. Genetic testing for pathogenic germline mutations of the 2 known causative genes of this syndrome, namely <i>SMAD4</i> and <i>BMPR1A</i>, are readily available and should become part of the evaluation of giant gastric folds, particularly in view of the neoplastic and hereditary aspects of juvenile polyposis syndrome.

A Rare Case of Urinothorax as a Result of Penetrating Trauma

Urinothorax, defined as urine within the pleural space, is an uncommon finding in published trauma literature. To date, there are less than ten recorded cases of non-iatrogenic trauma-induced urinothorax, most resulting from blunt traumatic injuries from motor vehicle collisions. Given the rarity of the condition, the diagnosis is often missed or delayed. Once the diagnosis is suspected, the most reliable finding is a pleural fluid to serum creatinine ratio of >1. A confirmed diagnosis of urinothorax then requires drainage of pleural fluid and management of distal ureteral obstruction. Unfortunately, the added complexity of the poly-trauma patient obscures this difficult diagnosis often leading to a delay in treatment and prolonged hospital stay. No current published literature exists on penetrating trauma as a cause of urinothorax. Here, we describe a unique case of urinothorax in a 32-year-old male as a result of penetrating trauma.

INFECTIOUS ENDOCARDITISSECONDARY TO NEISSERIA SPP IN PATIENTS WITH CARDIAC PROSTHESES: RARE ENTITY AND DIFFICULT DIAGNOSIS

Infectious endocarditis is an infrequent pathology but with a very significant morbidity and mortality context. The MostCommon responsible germs are streptococci and staphylococci.Neisseria is a strain of bacteria characterized by several subgroups such as gram-negative diplococci which are present in the respiratory tract and which are generally harmless and other gram-negative bacteria such as Neisseria gonorrhoeae which are known to be pathogens involved in several pathologies.We report a case of infectious endocarditis in 37-year-old patient with mitral valve replacement who presented a prolonged febrile syndrome with discovery on transesophageal echocardiography of vegetation and blood cultures of an SP Neisseria.

Challenges in chronic pelvic pain: Diffuse uterine capillary haemangioma simulating a clinical picture of adenomyosis

Introduction: Adenomyosis is a heterogeneous condition of difficult diagnosis that stands out in our patients for causing abundant menstrual bleeding, dyspareunia and dysmenorrhoea. However, in chronic pelvic pain units it is important to consider other conditions of similar symptomatologies, such as vascular malformations. These include capillary haemangiomas which, although rare in the reproductive tract, can produce serious symptoms. Case description: We present the case of a 31-year-old woman under observation by the chronic pelvic pain unit for dysmenorrhoea and dyspareunia since menarche. Ultrasound and magnetic resonance findings were compatible with adenomyosis. The patient showed no improvement with hormonal treatment. Upon failure of the medical treatment and taking into account the patient’s lack of gestational desire, a laparoscopic hysterectomy was performed. The pathological report revealed a diffuse capillary haemangioma as the cause of the symptoms. Given the completely curative nature of surgery for this type of condition, the patient was discharged from our unit. Conclusion: The preoperative diagnosis of adenomyosis is still a challenge and units specializing in chronic pelvic pain must consider all possible diagnostic options so as not to overlook rarer conditions such as vascular malformations.