scholarly journals Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up

2015 ◽  
Vol 4 (1) ◽  
pp. 49
Author(s):  
Erica deAvila ◽  
Rafael deMolon ◽  
Mario Gabrielli ◽  
Eduardo HochuliVieira ◽  
Marisa Gabrielli
Author(s):  
Guilherme Finger ◽  
Maria Eduarda Conte Gripa ◽  
Tiago Paczko Bozko Cecchini ◽  
Tobias Ludwig do Nascimento

AbstractNocardia brain abscess is a rare clinical entity, accounting for 2% of all brain abscesses, associated with high morbidity and a mortality rate 3 times higher than brain abscesses caused by other bacteria. Proper investigation and treatment, characterized by a long-term antibiotic therapy, play an important role on the outcome of the patient. The authors describe a case of a patient without neurological comorbidities who developed clinical signs of right occipital lobe impairment and seizures, whose investigation demonstrated brain abscess caused by Nocardia spp. The patient was treated surgically followed by antibiotic therapy with a great outcome after 1 year of follow-up.


2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Esha M. Kapania ◽  
Christina Link ◽  
Joshua M. Eberhardt

Background. Chilaiditi syndrome is a phenomenon where there is an interposition of the colon between the liver and the abdominal wall leading to clinical symptoms. This is distinct from Chilaiditi sign for which there is radiographic evidence of the interposition, but is asymptomatic. Case Presentation. Here, we present the case of a patient who, despite having clinical symptoms for a decade, had a delayed diagnosis presumably due to the interposition being intermittent and episodic. Conclusions. This case highlights the fact that Chilaiditi syndrome may be intermittent and episodic in nature. This raises an interesting question of whether previous case reports, which describe complete resolution of the syndrome after nonsurgical intervention, are perhaps just capturing periods of resolution that may have occurred spontaneously. Because the syndrome may be intermittent with spontaneous resolution and then recurrence, patients should have episodic follow-up after nonsurgical intervention.


2008 ◽  
Vol 126 (2) ◽  
pp. 126-127 ◽  
Author(s):  
Carlos Márcio Nóbrega de Jesus ◽  
José Carlos de Souza Trindade Filho ◽  
José Goldberg

CONTEXT: Posterior urethral valve (PUV) is a widely known condition affecting males that generally presents prenatally or at birth. PUVs have also been occasionally described in literature in cases diagnosed during adolescence or adulthood. CASE REPORT: This report presents two late PUV cases, one in a teenager and the other in an adult. Both cases had had clinical signs of urinary tract infection and obstructive urinary symptoms. The diagnoses were made by means of voiding cystourethrography and urethrocystoscopy. Endoscopic valve fulguration was the treatment chosen for both. Their follow-up was uneventful.


2017 ◽  
Vol 2017 ◽  
pp. 1-5
Author(s):  
Pier Paolo Poli ◽  
Luca Creminelli ◽  
Valeria Moramarco ◽  
Alessandro Del Gobbo ◽  
Franco Ferrante ◽  
...  

Apocrine hidrocystomas are rare benign cystic tumors originating from the secretory portion of apocrine sweat glands. To the best of our knowledge, there is no evidence currently available reporting the presence of apocrine hidrocystomas in the oral cavity. Therefore, this case report aims to describe the clinical and histological features of an apocrine hidrocystoma affecting the oral mucosa. A 69-year-old male patient presented with a 1-year history of a solitary, well-circumscribed, submucosal mass in the left posterior buccal mucosa. The clinical examination revealed a yellowish soft, fluctuant, and painless lesion with no clinical signs of erythema or ulcerations of the overlying epithelium. The entire lesion was excised and histopathological analysis confirmed the diagnosis of apocrine hidrocystoma. No recurrence was observed after a 1-year follow-up.


2020 ◽  
Author(s):  
Angela Vinturache ◽  
Lamiese Ismail ◽  
Stephen Damato ◽  
Hooman Soleymani Maid

Abstract Background: Leiomyomas are uncommon vulvar neoplasms often misdiagnosed as other Bartholin gland pathology. Due to their rarity and the absence of guidelines, their diagnosis and management remain challenging, largely based on expert opinion and evidence from case reports. Case Presentation: This case report describes a 44-year-old woman presenting with accelerating growth of a vulvar mass. Based on clinical signs and symptoms, the initial diagnosis was Bartholin cyst. Surgical excision was provided for symptom control and aesthetic reasons. The histopathologic diagnosis was vulvar leiomyoma. The postoperative recovery was complicated by secondary haematoma and dehiscence of the surgical site. There was no recurrence at two years follow up. Therefore, we discuss the dilemma posed by physical examination of a vulvar mass, the challenges of the management, and report on secondary morbidity and long-term follow up, aspects of care for patients with vulvar pathology not commonly addressed in the literature. Conclusions: Bartholin gland neoplasms are rare tumors, commonly misdiagnosed as Bartholin’s cysts. Excision is the treatment of choice. Short time follow up allows prompt management of potential postoperative complications. Continuing long term follow up is recommended due to recurrence risk.


2017 ◽  
Vol 74 (8) ◽  
pp. 778-781 ◽  
Author(s):  
Andreja Glisic ◽  
Nevena Divac ◽  
Miroslava Gojnic-Dugalic ◽  
Biljana Kastratovic-Kotlica ◽  
Neven Vavic ◽  
...  

Introduction. The possibility of a term pregnancy with favorable maternal and neonatal outcome is one of the greatest advances in kidney transplantation, though concerns still exist regarding the safety of the mother, fetus, and graft. The use of immunosuppressive medications during pregnancy is related to possible fetal adverse effects. Case report. We report a course of a pregnancy in a patient with a kidney transplant. The patient was treated with immunosuppressive therapy (tacrolimus, azathioprine, and prednisolone) during the pregnancy. The outcome of the pregnancy was without maternal and neonatal complications. Serum creatinine levels were stable and no acute organ rejection occurred during pregnancy. Significant elevation of the Ddimer and coagulant factors II, VII, IX and X were noticed during the third trimester. This could be partially attributed to azathioprine, which was a part of the immunosuppressive regimen. On the other hand, there were no radiological or clinical signs of thromboembolism, but low-molecularweight heparin prophylaxis was immediately initiated. Cesarean section was performed at the 39th gestational week and a healthy female infant was delivered with a birth weight of 3,150 g and Apgar score 9. Conclusion. Pregnancies of kidney transplant recipients are high-risk and require a multidisciplinary approach. Careful clinical follow-up is a prerequisite for favorable outcome.


2021 ◽  
Vol 15 (09) ◽  
pp. 1277-1280
Author(s):  
Milos Dusan Babic ◽  
Lazar Angelkov ◽  
Milosav Tomovic ◽  
Mihailo Jovicic ◽  
Darko Boljevic ◽  
...  

Introduction: The estimated infection rate after permanent endocardial lead implantation is between 1% and 2%. Pacemaker lead endocarditis is treated with total removal of the infected device and proper antibiotics. In this case report, we present a patient with delayed diagnosis and treatment due to the COVID-19 outbreak. Case Report: An 88-year-old, pacemaker dependent woman with diagnosed pacemaker pocket infection was admitted to the University Cardiovascular institute. The patient had a prolonged follow-up time due to the COVID-19 outbreak. She missed her routine checkup and came to her local hospital when the generator had already protruded completely, to the point where she held it in her own hand. Transthoracic echocardiogram showed possible vegetations on the lead. Transesophageal echocardiography was not performed due to the COVID-19 pandemic. On the day after the admission the patient underwent transvenous removal of the pacemaker lead using a 9 French gauge rotational extraction sheathe (Cook Medical). The extracted lead was covered in a thin layer of vegetations. Further follow-ups showed good recovery with no complications. Conclusions: A case showing delayed treatment of pacemaker pocket infection, due to delayed follow-up time during the COVID-19 pandemic. This patient underwent successful transvenous removal of the infected pacemaker lead, along with adequate antibiotic therapy, which has proven to be the most effective method of treating cardiac device-related endocarditis.


Author(s):  
C Lucero ◽  
F Díaz-Dilernia ◽  
F Comba ◽  
G Zanotti ◽  
F Piccaluga ◽  
...  

Case We present a case of a 70-year-old woman with simultaneous periprosthetic joint infection (PJI) of both hips and left knee due to a bilateral psoas abscess. The patient underwent debridement and implants removal with the consequent reimplantation in a sequential six-stage revision surgery. At four years of follow-up and in spite of the patient’s comorbidities and current PJI presentation, she maintains full activities of daily living without restrictions. Conclusion Accurate and early diagnosis of a psoas abscess is crucial. This case report provides experience of a complex scenario, the decision-making involved and the outcomes of an underdiagnosed complication.


2019 ◽  
Vol 12 (4) ◽  
pp. e228645 ◽  
Author(s):  
Mariana Almeida Oliveira ◽  
Analia Carmo ◽  
Andreia Rosa ◽  
Joaquim Murta

We report a case of a 41-year-old woman, wearer of contact lenses who was presented to the emergency room with a 2-month history of pain and red eye. She presented with a severe keratitis refractory to quinolones, fortified antibiotics and clotrimazole. Due to the risk of perforation, a tectonic penetrating keratoplasty (PK) was performed. Clinical signs of keratitis recurrence were observed and cultures were positive for Purpureocillium lilacinum (former Paecilomyces lilacinus). The patient did not improve on topical amphotericin B and intracameral voriconazole. Worsening of clinical condition required a new PK. Oral posaconazole was initiated postoperatively and suspended at the fourth postoperative month. The cornea remains clear until the last follow-up visit, 12 months after the second graft. To our knowledge, this is the second case report that documents the effectiveness of oral posaconazole in a refractory P. lilacinus keratitis, resistant to other second-generation triazoles and conventional antifungals.


2020 ◽  
Vol 48 ◽  
Author(s):  
Rebeca Bastos Abibe ◽  
Cláudia Valéria Seullner Brandão ◽  
Geovane José Pereira ◽  
Luciane Dos Reis Mesquita ◽  
Sheila Canevese Rahal

Background: Ureteroceles are cystic dilatations of the terminal ureter and is a rare diagnosed condition in dogs. They can be classified as orthotopic when it is entirely within the bladder and the ureteral orifice emerges normally or ectopic if the ureteral orifice is not in the normal position in the trigone. Orthotopic are usually clinically silent. Ureterocele can contribute to lower urinary tract disease leading to infections and loss of the renal function. As long as this injury can arise slowly, it might be underdiagnosed in companion animals. This case aims to report a case of a bitch with diagnosed symptomatic orthotopic ureterocele efficacious surgical treatment.Case: A 5-month-old female mixed breed was referred to the veterinary hospital, with a major complaint of urinary incontinence since the birth date after the first attendance in a colleague who have suspected of ureterocele considering ultrasound report of a vesicle of 1.4 x 1.5 cm in lefts ureter bladder’s insertion topography with ipsilateral hydroureter and renal dilatation. Beside the urinary dysfunction, the animal presented good general status and normal vital signs. Complete blood count and biochemical analysis were within normal ranges. A new ultrasound exam and Computerized Urotomography with contrast gave the definitive diagnosis of left orthotopic ureterocele with twisted hydroureter (proximal 1.29 cm and distally 0.98 cm) and hydronephrosis (3.32 cm). The marsupialization was chosen scientifically based to correct the ureterocele and the patient presented good general condition since then with prompt improvement of clinical signs. The patient was submitted to serial image exams in six weeks following up to check the consequent urinary tract dilatation from the previous disease regression. After the last follow up animal received hospital discharge and was assessed twice in four months with normal measures of the urinary tract.Discussion: Different from the most common insert point of this injury, this case report presents an orthotopic ureterocele which due to the clinical signals, could be diagnosed differently from the literature who have described most often ectopic or asymptomatic events. Corroborating with usual development of uretero vesical junction obstruction described, this patient also advanced to hydroureter, hydronephrosis and kidney parenchymal loss. Due to being uncommon in small animal routine, diagnosis and therapeutic recommendations are based on few veterinarian and mainly human data. The gold-standard diagnostic method is excretory urethrocystography with an intra-bladder image called “cobra-head” or a contrast cystic fill defect. When ectopic ureterocele is suspected, intra-venous contrast urography or Computerized urotomography are a thrustful choice. Surgical treatment is indicated in symptomatic and obstructive ureterocele. The planning was based in urotomography diagnosis of unilateral orthotopic left ureterocele, marsupialization technique was performed. Two days after the procedure, the patient returned maintaining the total enhancement of incontinence. During the image follow up made after the surgery was observed decrease of the dilatations and improvement of renal medullary cortical ratio. This case report raises the importance of counting uncommon diseases as differential diagnosis in the veterinarian routine. Also, the use of the correct image approach can lead to the definitive diagnosis and treatment.


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