Jornal de relatos de casos clínicos

The left ventricular non-compaction (LVNC) is a primary cardiomyopathy and is characteriezed by prominent trabeculations on the luminal surface of the ventricle and deep inter-trabecular recesses (DITR) communicating whith ventricular lumen and regional wall motion abnormalities. The diagnosis of LVNC is generally made whith transthoracic echocardiography (TTE) and cardiac magnetic resonance imaging (CMRI). The spectrums of clinic are highly variables, ranging from no symptoms to progressive deterioration in cardiac function which results in congestive heart failure, systemic thromboembolism, life threatening ventricular arrhythmias, and sudden cardiac death (SCD). A case of LVNC with sustained ventricular tachycardia (VT) was presented. An implantable cardiac defibrillator (ICD) was implanted because of the individual’s high SCD risk.

Myeloid sarcoma is a disease that involves first the breast with rapid systemic dissemination. There is no scientific standard consensus on surgical and medical treatment of myeloid sarcoma of the breast and there is no role for radical surgery because chemotherapy and radiotherapy are required for longer survival. Surgery is needful in investigatory work-up to define immunohistochemistry diagnosis. We reported one case of 39-year-old Caucasian female with myeloid sarcoma without systemic involvement that was admitted to our Operative Unit for breast neoplasm. The patient is alive 19 months after surgery she is in good health, without relapse and she never developed neither clinical nor hematologic signs of myelo-proliferative disease. We can deduce that our therapeutic strategy was correct but we can’t consider the disease completely cured because of its aggressiveness.

Paraneoplastic cerebellar degeneration is an uncommon autoimmune disorder characterized clinically by progressive, ultimately incapacitating ataxia and pathologically by destruction of cerebellar Purkinje cells, with variable loss of other cell populations. The paraneoplastic cerebellar degeneration can antedate the recognition of malignancy and hence can be a warning sign for occult tumor. We are reporting two cases of paraneoplastic cerebellar degeneration that presented before any evidence of tumor and later developed advanced stage of malignancy not amenable for surgery.

Cesarean Scar Pregnancy (CSP) is a rare type of ectopic pregnancy needing a high index of suspicion to make an early diagnosis. Recent literature describes treatment of CSP using methotrexate (MTX). Surgical options include hysteroscopic coagulation of vessels at implantation site, laparoscopic removal of gestational sac, laparotomy with wedge resection of pregnancy; ultrasound guided suction curettage and uterine artery embolization with injection of MTX locally. However, to date no universal guidelines exist regarding its management. A case of successful management of a pregnancy in a previous Cesarean section scar, with the use of systemic methotrexate followed by ultrasound guided evacuation of the uterus is presented, followed by an uncomplicated live birth in the successive pregnancy.

Unicornuate uterus with a rudimentary horn is a rare anomaly of the female genital system resulting from inco mplete development of one of the müllerian ducts. It might end in grave obstetrical and gynecological complications in the absence of early diagnosis and proper management. A rare case of a full-term pregnancy in a non-communicating rudimentary horn is presented in this paper. A 24-year-old pregnant woman carrying the preliminary diagnosis of placenta percreta was referred to our clinic by reason of vaginal bleeding at a gestational age of 38 weeks. She underwent emergency cesarean section in our clinic, which led to the finding that her condition was not placenta percreta, but a full-term pregnancy in a non-communicating rudimentary horn. The need for a high index of suspicion as well as the use of ultrasonography plays a key role in the early diagnosis of this rare condition. Rudimentary horn pregnancy must be suspected in patients referred with the preliminary diagnosis of placenta percreta.

Coronary anomalies are rare congenital abnormalities and are often associated with complex congenital heart diseases and manifest in infancy or childhood. Single coronary artery arising from the sinus of Valsalva supplying the entire heart is one of these congenital anomalies. The prevalence is reported to be approximately 0.3 to 2.0% of the general population, mostly clinically asymptomatic and with good prognosis. However, in some cases this anomaly can present as acute coronary syndrome in adults. Literature reports of patients with both a single coronary artery and an acute coronary syndrome are sparse, and percutaneous coronary interventions in such cases are technically challenging. We report a case of a patient with a single coronary artery suffering from an acute coronary syndrom who underwent complex bifurcational percutaneous intervention and provide a review of the literature.

Background: Choroidal metastasis from Renal Cell Carcinoma (RCC) is very rare and only one case during Sunitinib treatment has been published until now. Case presentation: In February 2015, a 61-year old, Caucasian man was hospitalized for acute dyspnea. In 2006, he underwent right nephrectomy for clear-cells RCC. Chest CT-scan showed multiple lung and lymph node metastases. Histological examination confirmed metastasis from clear-cells RCC. According to Motzer and Heng classification, the patient was classified as intermediate risk and, from March to July 2015, he received a total of 3 cycles of Sunitinib treatment. Despite a relevant tumor response in lung and lymph node metastases, he presented a brutally, unexplained, blurred vision in his right eye secondary to a choroidal metastasis. An external radiotherapy was administered without any relevant, clinical benefit. Considering tumor response in the other metastatic sites, Sunitinib treatment was continued and it is now ongoing. Conclusion: RCC-associated choroidal metastasis is extremely rare. In contrast with another case responding to Sunitinib therapy, our patient presented a significant tumor response to Sunitinib in the extraocular metastatic sites and a choroidal progression, suggesting that the choroid could be a potential tumor “pharmacologic sanctuary” for this drug. This case also raises the question of how to treat patients presenting an isolated disease progression in the sites which are very difficult to be reached by systemic treatment.

Objective: We report a case of delayed humeral intercondylar fracture associated with severe bone defects treated with iliac bone autografting reconstruction. Methods: A 3-months deleyed case of humeral intercondylar fracture associated with severe bone defects and stiffness was treated by arthrolysis, olecranon osteotomy, internal fixation with parallel plates and iliac bone autografting reconstruction. Results: 4 months later, the patient recovered with full range of motion and bone healing. There was no bone fragment displacement, implant loosening, or internal fixation breakage. Conclusions: For delayed distal humeral intercondylar fracture with severe bone defects, we can successfully treat by arthrolysis, internal fixation with parallel plate, and iliac bone autografting reconstruction. Iliac crest bonegrafting is a good method to reconstruct the bone loss.

Cogan’s syndrome (CS) is a very rare disorder of unknown origin characterised by inflammatory eye disease and vestibuloauditory symptoms. According to the International Chapel Hill Consensus Conference Nomenclature of Vasculitides, CS is defined as “variable vessel vasculitis”. We present the case of a 44-year old male, primarily diagnosed and treated for large/medium vessel vasculitis probably due to indeterminate colitis, who finally developed CS. Difficulties in the diagnosis of this rare disease are also discussed.

Urinary lymphoepithelioma-like carcinoma is a rare tumour. These tumours are classified according to lymphoepithelioma component as pure (100%), predominant (≥50%) or focal (<50%). We present here an original case of a 54 year-old man who was diagnosed with a LECL of the urinary bladder. The results of histological examination confirmed a high-grade T2 transitional cell carcinoma with LELC >50%. Neoadjuvant gemcitabine and platinium-based chemotherapy was carried out. The patient received four cycles with a good tolerance. After completed chemotherapy, the patient underwent a radical cystoprostatectomy with lymph nodes dissection and bricker urinary diversion. It’s difficult to define the optimal strategy, literature reporting only small series. Nevertheless, the benefits of chemotherapy is certain. The outcome is good in the pure and predominant forms and bad in focal subtypes.

Background: Fatal bleeding episodes due to spontaneous mucocutaneous bleeding are common in Glanzmann`s Syndrome (GT). Control of such bleeding with imperative approaches remains challenging. The unanticipated rare genetic GT hematological disorder of platelet function is life-threatening particularly from the surgical interventions. It is regularly controlled by medical therapies (including; systemic recombinant factor VIIa, local anti-fibrinolytic agents and blood/platelet transfusions) and surgical therapies (including; electrocautery, laser coagulation, and embolization). Case Description and Management: We describe here, for the first time in country, an uncircumcised 10-years old Saudi boy with GT diagnosed during a regular circumcision surgical intervention for relieving phimosis due to edematous enlarged glans penis with bluish skin coloration. The post circumcision life-threatening bleeding - that necessitated redoing the surgery with deep suturing - was confirmed upon hematological consultation to be a GT bleeding disorder. Repeated transfusion of packed red blood cells reaching 8 units significantly induced effective cessation of bleeding within 24 hours, discharge within 72 and complete wound healing without complications within a week. Conclusions: Although very rare, GT should be anticipated upon surgical intervention with secured packed red blood cells, concentrated platelets and rFVIIa (the latter two were available for our case). This case report represents the first description for successful treatment of life-threatening hemorrhage in a GT patient in Saudi Arabia and molecular investigations are planned since his sisters gave a history of profuse menstruation.

Bipolar disorder is a psychiatric condition that can develop severe manic episodes which can be life threatening for patient or others and therefore rapid intervention is required to prevent this. Antipsychotic treatment with FGAs (first generation antipsychotics) is still frequently used for quick sedative effect as well as for the improvement of manic symptoms. Management of agitation in patients with psychiatric disorders is a major problem in acute psychiatric settings with insufficient personnel, situation which is frequent in Romania and other East European countries. FGAs (first generation antipsychotics) and BDZ (benzodiazepine), especially as intramuscular formulation, alone or in combination, have been the treatment choice for extreme agitation and aggression all over the world. Haloperidol is still used to treat schizophrenia and acute psychosis as well as agitation, extreme aggression and manic episode. It is known that common adverse effects include extrapyramidal reactions, restlessness, neuroleptic malignant syndrome, and tremor. High doses of haloperidol are administered to patients when RT (rapid tranquilization) is needed. We present two cases of unusual, unexpected, ultrafast and full remission of a manic episode after treatment with haloperidol high doses.

A 52-year-old man was referred to our institution with the presentation of rectal bleeding, and change in caliber of his stools. On rectal examination a solid mass was palpated in the prostate area. Transrectal needle biopsy and cytology showed a gastrointestinal stromal tumor. Subsequent rectal ultrasound demonstrated a hypoechogenic lesion that appeared to be growing out of the muscularis propria of the anterior rectal wall. Magnetic resonance imaging showed a well demarcated mass measuring 9 cm in diameter, which occupied the cavity of the lesser pelvis. A low anterior rectal resection with protective ileostomy was performed. The macroscopic findings showed the tumor measuring 9 cm, growing from the anterior wall of the rectum. Histological examination of the excised specimen revealed up to 5 mitoses per 50 high-power fields. The postoperative course was uneventful and ileostomy was closed after six weeks. Magnetic resonance imaging on follow-up five years postoperatively showed no signs of recurrence.

Rosai-Dorfman disease is a histiocytic disorder that is most common in children and young adults of African
descent which typically presents as painless massive cervical lymphadenopathy. The purpose of this article is to
report a case of Rosai-Dorfman disease in a 77-year-old woman who presented with a large subcutaneous mass
in her lower left abdomen. Microscopic examination revealed diagnostic features of Rosa-Dorfman disease. This
uncommon disorder may involve lymph nodes and other organs, but rarely involves and presents as a soft tissue
tumor. Clinical observation is the usual treatment, and correct diagnosis is important to avoid unnecessary therapy.

Aim: To retrospectively review our patients with metastasis of diaphyseal humerus by surgical resection and
reconstruction with cement, titanium mesh and plate.
Methods: Between April 2008 and December 2012 we treated 6 consecutive patients with humeral metastasis,
4 females and 2 males, with a mean age of 72 years (range 60-78 years) and a mean follow up of 14 months (range
1.3-47.2 months).
Results: We observed one major complication and all patients died of disease. The mean Musculoskeletal
Tumour Society functional score at the time of final follow up was 26.8. Limb salvage surgery for malignant tumors
of diaphyseal humerus is an operative challenge, where the surgeon has to preserve elbow and hand functions and
retain shoulder stability with as much function as possible. Diaphyseal resection allows disease local control, which
alleviate tumor-related pain also preserving the shoulder and elbow function.
Conclusions: Treatment with cemented-plate and mesh provided a cheap and reliable option for diaphyseal
humerus reconstruction after tumour resection.

A 45 year-old man was brought to the emergency department having ingested an unknown quantity of a green substance that was subsequently found to be a termite killer containing arsenic trioxide. Despite aggressive resuscitation, chelation therapy and gastrectomy, he died within 24 hours of presentation. We present the clinical course, pathological findings and a literature review of this rare and often fatal condition.

Chikungunya virus (CHIKV) is an emerging arthropod-borne virus (arbovirus) of the genus Alphavirus in the family Togaviridae. CHIKV is transmitted by the bite of infected mosquitoes; materno-foetal transmission and transmission via corneal graft have been reported. During the past decade, the status of chikungunya has changed, from a relatively uncommon and poorly documented disease, to an emerging disease, and now to a global public health concern. CHIKV now circulates in all inhabited continents. From 2011, CHIKV emerged in the Pacific region and was responsible for a massive outbreak in French Polynesia in 2014-2015 affecting about 25% of the population in a context of co-circulation with dengue virus (DENV). CHIKV mainly causes acute fever and severe and persistent polyarthralgia. Ocular involvement has been described during chikungunya fever but few were well-documented. We herein report a laboratory-confirmed case of CHIKV-associated uveitis during the French Polynesia outbreak.

We report the case of a 17-year-old male with sickle cell disease who initially presented with headache and chest pain and subsequently developed fever and swelling of the scalp. On imaging, he was diagnosed with a subgaleal hematoma, and an underlying osteomyelitis could not be excluded. The patient was treated medically with analgesia, hydration and antibiotics and fully recovered. Spontaneous subgaleal hematomas are a rare complication of sickle cell disease with only few cases reported. Although it is thought to be associated with an underlying bone infarction, it is important to recognize this entity, as it can present with osteomyelitis or an epidural hematoma, which need prompt medical and in some cases surgical treatment.

Nontuberculous mycobacteriosis are chronic granulomatous diseases caused by different types of mycobacteria. Plain chest X-ray and high resolution computed tomography are highly nonspecific but absolutely neccesary in detection and follow-up of patients with pulmonary mycobacterial infection. Treatment of infection caused by Mycobacterium avium complex is often successful. However treatement is successful only in 55% of patients with pulmonary infection caused by Mycobacterium abscessus complex. The results of therapy is dependent on sensitivity to macrolides whitch are cornerstones of medical therapy. In our case serie of four patients with cystic fibrosis show that results of therapy in patients with preexistent lung disease can be very different and is not dependent only on type of mycobaterial infection and sensitivity to antimicrobial treatment. In such cases, therapy of Mycobacterium avium complex infection can last even several years.

Myocarditis is a serious manifestation of systemic lupus erythematosus. It is reported that 5-10% of the patients
present symptomatic myocarditis. However, myocarditis in mixed connective tissue disease is uncommon. Only a
few cases with mixed connective tissue disease patients who presented symptomatic myocarditis were reported.
We herein describe a patient with mixed connective tissue disease who developed acute myocarditis and responded
rapidly to steroids. Physician should be aware of myocarditis as one of the serious complications of mixed connective
tissue disease.

Uterine serous carcinoma is a representative histological subtype of endometrial type II cancer. Uterine
serous intraepithelial carcinoma is thought to be a precursor lesion of uterine serous carcinoma. Uterine serous
intraepithelial carcinoma is frequently found to involve an endometrial polyp. Preoperative diagnosis of uterine serous
intraepithelial carcinoma is difficult due to its localized occurrence in the endometrial cavity. We experienced a case
of postmenopausal women with abnormal endometrial cytology. Endometrial biopsy suggested the possibility that
she has a malignant uterine tumor, but it did not reached to the confirmative pathological diagnosis. Hysteroscopy
revealed that she has an endometrial polyp. Pathological analysis of the resected endometrial polyp confirmed that
her disease is uterine serous intraepithelial carcinoma involving endometrial polyp. She underwent hysterectomy,
bilateral salpingo-oophorectomy, omentectomy and retroperitoneal lymphadenectomy. No extrauterine lesion was
detected. Our case suggested the possibility that transcervical resection under the hysteroscope might be useful to
detect serous endometrial intraepithelial carcinoma.

Aim: To evaluate the efficacy of Amniotic Membrane graft in the treatment of chronic venous leg ulcers. Research Design and Methods: Prospective, randomized, non-blinded study. Eligible patients were randomized to one of 2 groups: Group I: (Control group) included 11 chronic leg ulcers, in which ulcers were treated with conventional moist wound dressings and multilayer compressive bandages. Group II: (Amniotic Membrane group) included 14 leg ulcers. Amniotic membrane was placed in contact with ulcer and held in place with secondary dressing and multilayer compressive bandages. all patients were evaluated for healing rate and change in ulcer size. Results: Healing rate showed significant difference between group I and group II (p = 0.001). Group II (AM) patients demonstrated near complete healing of 14 ulcers in 14-60 days with mean of 33.3 ± 14.7, healing rate range was 0.064- 2.22 and mean of 0.896 ± 0.646 cm2/day with 94% reduction in ulcer size. Taken AM grafts were seen in 28.6% (n=4) of group II. Reduction in ulcer size in taken AM graft was 94.7%, while 93% in non-taken AM graft. Conclusions: Our results suggest that using AM in treat leg ulcers not responding to conventional multilayer compression in patients with non- option chronic venous insufficiency.

This document pertains to the case study of Major Depressive Disorder. The subject of the disorder was Mr. IR age 33 years, married, an MBA and was serving as manager in a government commercial bank. Mr. IR has one elder brother and an elder stepsister. He was referred to my clinic by an Ex-client. Mr. IR told me about the symptoms he was suffering from. These were; aggressive behavior, sadness, suicidal tendency, lack of interest in routine life matters, disillusionment about his sexual ability, disturbed sleep and at last a unique symptom that he kept sitting, talking and weeping in front of mirror for one or two hours once or twice in a week. He could not recall his actions afterwards which he used to play before mirror. Assessment made after taking semi-structured interviews from Mr.IR and his family. In light of assessment and DSM-IV, it was diagnosed that Mr. IR was suffering from Major Depressive Disorder

Anti–N-methyl-D-aspartate receptor (NMDAR) encephalitis is uncommon cause of immune mediated encephalopathy in children. It usually manifests as psychosis, seizures and dyskinesia. We describe an unusual association with the phenotype of this disease. An 11 year-old girl presented with psycho-behavioral disturbances, headache, fever and episodic disorientation few weeks after fever and upper respiratory tract infection. Her MRI showed communicating hydrocephalus. She was found to have positive anti-NMDAR antibodies. She underwent VP shunt followed by immunomodulatory therapy resulting in resolution of headache and substantial improvement of alertness and psycho-behavior. Several months later she relapsed and remission was induced by a repeated course of immunomodulatory therapy. This report illustrates the remarkable phenotypic variability in this condition. The diagnosis of anti-NMDAR encephalitis should be considered in patients who present with subacute or relapsing encephalopathy associated with communicating hydrocephalus.

The popliteal tendon has been known to catch over a femoral osteophyte or the overhanging edge of the femoral component very occasionally following total knee arthroplasty (TKA). However, impingement of the popliteal tendon against the posterior edge of the tibial liner is rare. Although its pathological mechanism is simple, this complication cannot be definitively diagnosed unless posterior arthroscopic examination is performed. In this report, we describe the diagnostic and treatment challenges of using arthroscopy via posteromedial and posterolateral portals.