Description

Journal of Medical Case Reports is a peer-reviewed open access journal that will consider any original case report that expands the field of general medical knowledge.

Publications in this journal

• Neoplastic leptomeningitis presenting in a melanoma patient treated with dabrafenib (a V600EBRAF inhibitor): a case report.

  Authors: Ester Simeone, Eleonora De Maio, Fabio Sandomenico, Franco Fulciniti, Secondo Lastoria, Pasquale Aprea, Stefania Staibano, Vincenzo Montesarchio, Giuseppe Palmieri, Nicola Mozzillo, Paolo A Ascierto

  Journal of medical case reports. 6(1):131.

  ABSTRACT: INTRODUCTION: Leptomeningeal metastases are occurring at higher frequency in cancer patients. The prognosis of leptomeningeal metastases is poor and standard treatment, which includesABSTRACT: INTRODUCTION: Leptomeningeal metastases are occurring at higher frequency in cancer patients. The prognosis of leptomeningeal metastases is poor and standard treatment, which includes radiotherapy and chemotherapy, is mostly ineffective. Melanoma represents one of the tumors with the highest incidence of leptomeningeal metastases. The BRAF inhibitors have recently been demonstrated to be effective on melanoma brain metastases harboring the V600EBRAF mutation. CASE PRESENTATION: We report a case of a 39-year-old Italian woman with advanced melanoma with brain, lung and peritoneum metastases harboring the V600EBRAF mutation. In August 2010 she was enrolled into the BRIM3 trial and after the randomization process she received dacarbazine. After two cycles, there was evidence of disease progression in her peritoneum and lung. For this reason, she was enrolled into another clinical trial with the GSK2118436 BRAF inhibitor, dabrafenib, as a second line of therapy. She had a partial response that was maintained until 13 weeks of treatment. In January 2011 she developed symptoms typical for brain metastases and received a diagnosis of leptomeningeal involvement of melanoma cells after an examination of her cerebral spinal fluid; magnetic resonance imaging was negative for meningitis or brain metastases. Analysis of her cerebral spinal fluid sample confirmed that the melanoma cells still carried the V600EBRAF mutation. After a few days, our patient went into a coma and died. CONCLUSION: Starting with a clinical case, we discuss the pathogenesis of leptomeningeal metastases and whether the leptomeninges may represent a sanctuary where melanoma cells may generate resistance and/or where BRAF inhibitors cannot reach an adequate concentration for significant activity. We assess whether treatment with BRAF inhibitors in melanoma patients should be interrupted as soon as disease progression appears or continued beyond progression through the administration of additional compounds.

• Acute fulminant pseudomembranous colitis which developed after ileostomy closure and required emergent total colectomy: a case report.

  Authors: Iku Abe, Yutaka J Kawamura, Junichi Sasaki, Fumio Konishi

  Journal of medical case reports. 6(1):130.

  ABSTRACT: INTRODUCTION: Pseudomembranous colitis is known to be caused by Clostridium difficile; and, in 3-8% of patients, it lapses into an aggressive clinical course that is described as fulminant.ABSTRACT: INTRODUCTION: Pseudomembranous colitis is known to be caused by Clostridium difficile; and, in 3-8% of patients, it lapses into an aggressive clinical course that is described as fulminant. We present herein a case of extremely rapid and fatal fulminant pseudomembranous colitis that developed after ileostomy closure, a minor surgical procedure. To the best of our knowledge, this is the first case report of fatal fulminant pseudomembranous colitis after closure of diversion ileostomy in an adult. CASE PRESENTATION: A 69-year-old man who had previously undergone low anterior resection and creation of diverting ileostomy for stage III rectal carcinoma was admitted for ileostomy closure. Preoperatively, he received oral kanamycin and metronidazole along with parenteral cefmetazole. The surgery and postoperative course were uneventful until the third postoperative day, when fever and watery diarrhea became apparent. The next day he presented epigastric and left lower abdominal pain. Computed tomography revealed a slightly distended colon. Later that night, his blood pressure fell and intravenous infusion was started. In the early morning of the fifth postoperative day, his blood pressure could be maintained only with a vasopressor. Follow-up computed tomography demonstrated severe colonic dilation. Colonoscopy confirmed the presence of pseudomembranous colitis, and so oral vancomycin was administered immediately. However, within 3 hours after the administration, his condition rapidly deteriorated into shock. Although emergent total colectomy with creation of an end ileostomy was performed, the patient died 26 hours after the surgery. The histopathological examination was consistent with pseudomembranous colitis. CONCLUSION: It is important to recognize that, although rare, there is a type of extremely aggressive pseudomembranous colitis in which the usual waiting period for medical treatment might be lethal. We consider that colonoscopy and computed tomography are helpful to decide the necessity of emergent surgical treatment without delay.

• High dose methylphenidate treatment in adult Attention Deficit Hyperactivity Disorder: a case report.

  Authors: Michael Liebrenz, Danielle Hof, Anna Buadze, Rudolf Stohler, Dominique Eich

  Journal of medical case reports. 6(1):125.

  ABSTRACT: INTRODUCTION: Stimulant medication improves hyperactivity, inattention, and impulsivity in both pediatric and adult populations with Attention Deficit Hyperactivity Disorder (ADHD).ABSTRACT: INTRODUCTION: Stimulant medication improves hyperactivity, inattention, and impulsivity in both pediatric and adult populations with Attention Deficit Hyperactivity Disorder (ADHD). However, data regarding the optimal dosage in adults is still limited. CASE PRESENTATION: We report the case of a 38-year-old Caucasian patient who was diagnosed with ADHD when he was nine years old. He then received up to 10mg Ritalinand 20mg Ritalin SR daily. When he was 13, his medication was changed to desipramine (Norpramin), and both Ritalin and Ritalin SR were discontinued; and at age 18, when he developed obsessive-compulsive symptoms, his medication was changed to clomipramine (Anafranil) 75mg/d. Still suffering from inattention and hyperactivity, the patient began college when he was 19, but did not receive stimulant medication until three years later, when Ritalin 60mg/d was re-established. During the 14 months that followed, he began to use Ritalin excessively, both orally and rectally, in dosages from 4800-6000mg/d. Four years ago, he was referred to our outpatient service, where his ADHD was re-evaluated. At that point, the patient's daily Ritalin dosage was reduced to 200mg/d orally, but he still experienced pronounced symptoms of ADHD, so this dosage was raised again. The patient's plasma levels consistently remained between 60-187 nmol/l--within the recommended range--and signs of his obsessive-compulsive symptoms diminished with fluoxetine 40mg/d. Finally, on a dosage of 378mg Concerta, his symptoms of ADHD have improved dramatically and no further use of methylphenidate has been recorded during the 24 months preceding this report. CONCLUSION: Symptoms of ADHD in this adult patient, who also manifested a co-occurring obsessive compulsive disorder, dramatically improved only after application of a higher-than-normal dose of methylphenidate. We therefore suggest that clinicians consider these findings in relation to their adherence to current therapeutic guidelines.

• A benign multicystic peritoneal mesothelioma mimicking recurrence of ovarian borderline tumor: a case report.

  Authors: Shuji Takemoto, Ryosuke Kawano, Kazumi Honda, Aki Nakazono, Kazuhide Shimamatsu

  Journal of medical case reports. 6(1):126.

  ABSTRACT: INTRODUCTION: Benign multicystic peritoneal mesothelioma (BMPM) is an extremely rare tumor that occurs mainly in women in their reproductive age. Its preoperative diagnosis and adequateABSTRACT: INTRODUCTION: Benign multicystic peritoneal mesothelioma (BMPM) is an extremely rare tumor that occurs mainly in women in their reproductive age. Its preoperative diagnosis and adequate treatment are quite difficult to attain. CASE PRESENTATION: The case was 23 years-old Japanese woman and had a history of right oophorectomy and left ovarian cystectomy for an ovarian tumor at 20 years of age. The left ovarian tumor had been histologically diagnosed as mucinous borderline tumor. Two years and 9 months after the initial operation, multiple cysts were found in the patient. Laparotomy was performed, and the uterus, left ovary, omentum, and pelvic lymph nodes were removed due to suspicion of recurrence of the borderline tumor. Histological examination, however, revealed that the cysts were not a recurrence of the borderline tumor but rather BMPM. There were no residual lesions, and the patient was followed up with ultrasonography. She remains free from recurrence 9 months after treatment. CONCLUSION: We report a case of BMPM mimicking recurrence of ovarian borderline tumor. BMPM should be suspected when a multicystic lesion is present in the pelvis as in the case presented here, especially in patients with previous abdominal surgery.

• Primary myelolipoma presenting as a nasal cavity polyp: a case report and review of the literature.

  Authors: Smiley Annie George, Marie Therese Manipadam, Regi Thomas

  Journal of medical case reports. 6(1):127.

  ABSTRACT: INTRODUCTION: Myelolipomas are rare, benign tumours comprising mature adipose tissue and hematopoietic elements. The vast majority occurs within the adrenal glands but extra-adrenalABSTRACT: INTRODUCTION: Myelolipomas are rare, benign tumours comprising mature adipose tissue and hematopoietic elements. The vast majority occurs within the adrenal glands but extra-adrenal myelolipomas have also been reported in the presacral region, retroperitoneum, mesentery, stomach, spleen , liver, mediastinum and lungs.Here we present a case of primary myelolipoma occuring in an unusual site- nasal cavity.We believe that this unique location of extraadrenal myelolipoma has not been previously described in the literature. CASE PRESENTATION: We report a case of primary myelolipoma occuring in the nasal cavity of a 48-year-old Asian woman.With a review of the literature , we describe the aetiology, pathology, differential diagnosis of extradrenal myelolipomas. CONCLUSION: We present this case because of its unique location.Although myelolipomas are rare, we conclude that it should be considered in the differential diagnosis of lesions in this site.

• Vocal cord palsy after vincristine treatment in a child and the inefficacy of glutamic acid in the prevention of relapse: a case report.

  Authors: Piero Farruggia, Serena Tropia, Sonia Cannella, Giuseppa Bruno, Gaspare Oddo, Paolo D'Angelo

  Journal of medical case reports. 6(1):128.

  ABSTRACT: INTRODUCTION: Vincristine is an antineoplastic drug with a well-known efficacy in the treatment of acute lymphoblastic leukemia and many solid tumors. No more than twenty pediatric patientsABSTRACT: INTRODUCTION: Vincristine is an antineoplastic drug with a well-known efficacy in the treatment of acute lymphoblastic leukemia and many solid tumors. No more than twenty pediatric patients with vincristine-induced vocal cord palsy have been reported and this is the first case where glutamic acid was administered with the aim of preventing a relapse of laryngeal dysfunction. CASE PRESENTATION: The larynx paralysis presented with hoarseness and stridor in a Caucasian 18-month-old girl and spontaneously resolved in about a month. In order to administer a subsequent full dose of vincristine the child received oral glutamic acid whose efficacy against vincristine neurological side effects has been reported. CONCLUSION: Since in our patient the amino acid proved to be ineffective in the prevention of the laryngeal paralysis relapse, we suggest that a dose reduction of vincristine should be preferred by oncologists as an initial approach after a case of drug induced vocal cord palsy.

• Collision Metastasis of Urothelial and Prostate Carcinoma to the Same Lymph Node: A Case Report and Review of the Literature.

  Authors: Tapan Bhavsar, Jun Liu, Yajue Huang

  Journal of medical case reports. 6(1):124.

  ABSTRACT: INTRODUCTION: Collision tumor is the meeting and eventual intermingling of two malignant neoplasms arising from independent topographical sites. Collision metastases of carcinomas in lymphABSTRACT: INTRODUCTION: Collision tumor is the meeting and eventual intermingling of two malignant neoplasms arising from independent topographical sites. Collision metastases of carcinomas in lymph nodes are a rare event. A current literature search revealed three cases of such a collision metastasis of prostatic and urothelial carcinoma, and only one of those cases had used immunohistochemical stains to distinguish the two tumors. CASE PRESENTATION: We encountered a case of this rare entity in an 83-year-old African-American man who presented with increasing pelvic pain after a transurethral resection [TUR] of a high-grade bladder tumor and a negative metastatic computed tomography [CT]-chest, abdomen and pelvic scan work-up. A radical cystoprostatectomy was subsequently performed revealing a multicentric, high-grade, ill-defined infiltrating urothelial carcinoma infiltrating the right pericystic soft tissue. Histopathological examination of the prostate revealed a multicentric adenocarcinoma [Gleason 4 + 4] involving two pelvic lymph nodes. Interestingly, while the right pelvic lymph node was positive for metastatic prostatic adenocarcinoma alone, immunohistochemical studies of the left pelvic lymph node revealed a dual metastatic urothelial [cytokeratin[CK]-7 and pan-CK positive, prostate specific antigen [PSA] and CK20 negative] and prostatic [PSA and pan-CK positive, CK7 and CK20 negative] carcinoma. CONCLUSIONS: The collision of metastatic urothelial carcinoma and prostatic adenocarcinoma is unusual, and their biological behavior remains uncertain. A high index of suspicion along with thorough clinical examination, and immunohistochemical stains are an integral part of differentiating collision of urothelial carcinoma from prostate carcinoma, particularly when the two tumors are in close proximity with overlapping histological features.

• Acute-onset severe gastrointestinal tract haemorrhage in a post-operative patient taking Rivaroxaban following Total Hip Arthroplasty: A Case Report.

  Authors: Michael R Boland, Maria Murphy, Marese Murphy, Enda McDermott

  Journal of medical case reports. 6(1):129.

  ABSTRACT: INTRODUCTION: Rivaroxaban, a new oral anticoagulant, is currently licensed for use in patients undergoing orthopaedic surgery. It is more efficacious than other anticoagulants such as LowABSTRACT: INTRODUCTION: Rivaroxaban, a new oral anticoagulant, is currently licensed for use in patients undergoing orthopaedic surgery. It is more efficacious than other anticoagulants such as Low Molecular Weight Heparin (LMWH) and does not require daily monitoring. It has also been shown to be efficacious in patients with venous thromboembolism (VTE) and acute coronary syndrome (ACS). Although haemorrhage is a known side effect of this new anticoagulant we could find no case reports in the literature of patients suffering severe haemorrhage whilst taking Rivaroxaban. Thus, we describe the first case of potentially fatal haemorrhage in a patient taking Rivaroxaban. Case Presentation: We report the case of a 58 year old caucasian male with acute onset severe per rectum (PR) bleeding who had undergone total hip arthroplasty (THA) 4 weeks prior to the onset of symptoms and was taking Rivaroxaban in the post-operative period. Rivaroxaban was discontinued immediately but having required nine units in a peripheral hospital due to a rapidly decreasing Haemoglobin level, the patient was then transferred to a tertiary referral centre where he required eight units of packed red blood cells (PRBCs) over a 48 hour period to manage his ongoing haemorrhage and maintain haemodynamic stability. No source of bleeding was found on computed tomography (CT) angiography and the patient's condition improved over the following 48 hours with cessation of haemorrhage. The patient was discharged home well several days later. A follow up colonoscopy one week after discharge was normal. CONCLUSION: Although advantageous with regard to its oral availability and ongoing use without the need for daily monitoring, Rivaroxaban does not come without rare but severe side effects. When severe PR bleeding occurs in a patient taking Rivaroxaban,discontinuation of the offending agent and aggressive haematological replacement are the mainstays of treatment, especially when no source of bleeding can be found. As the first case described regarding severe haemorrhage and Rivaroxaban, those prescribing the medicine should remind the patient of the risk of such a serious side effect and the need for urgent medical attention if it occurs.

• Atypical clinical presentation and long-term survival in a patient with medulloepithelioma of the optic nerve: a case report.

  Authors: Natalia Pastora-Salvador, Jose Abelairas-Gomez, Jesus Peralta-Calvo, Eugenia Garcia-Fernandez, Carmen Morales-Bastos, Monica Asencio-Duran, Fernando Carceller-Benito

  Journal of medical case reports. 6(1):123.

  ABSTRACT: INTRODUCTION: Medulloepithelioma is a rare congenital tumor of the primitive medullary neuroepithelium. A significant proportion of patients with medulloepithelioma arising from the opticABSTRACT: INTRODUCTION: Medulloepithelioma is a rare congenital tumor of the primitive medullary neuroepithelium. A significant proportion of patients with medulloepithelioma arising from the optic nerve die from intracranial spread or cerebral metastasis. This tumor presents within the first 2-6 years of life and is usually misdiagnosed clinically as other optic nerve tumors because it has no known distinct clinical features and because of its low frequency. We herein describe a new and atypical case of medulloepithelioma in a patient of the oldest reported age at presentation with an insidious clinical presentation and the longest documented disease-free survival period. CASE PRESENTATION: A 12-year-old Caucasian male patient with headache and unilateral amaurosis was referred for a presumed optic nerve glioma. Computed tomography showed optic nerve enlargement, and fundoscopy showed a whitish mass at the optic disc. The patient had been followed at his local hospital for 4 years for an "optic disc cyst" with no change or progression. He experienced mild, progressive visual impairment during that period. The patient was admitted for resection, and histopathological analysis revealed a medulloepithelioma of the optic nerve. Supplemental orbital radiotherapy was performed. The patient remained disease-free for 25 years. CONCLUSION: Medulloepithelioma of the optic nerve can clinically mimic more common pediatric tumors, such as optic glioma, meningioma, or retinoblastoma. Thus, medulloepithelioma should be included in the differential diagnoses of pediatric optic nerve lesions. Fundoscopy in these patients may provide relevant information for diagnosis. Anterior optic nerve medulloepitheliomas may behave differently to and have a better prognosis than more posteriorly located medulloepitheliomas. The present case illustrates that long-term survival can be achieved in patients with this malignant tumor.

• Capsule impaction presenting as acute small bowel perforation: a cases series.

  Authors: Giovanni D De Palma, Stefania Masone, Marcello Persico, Saverio Siciliano, Francesca Salvatori, Francesco Maione, Dario Esposito, Giovanni Persico

  Journal of medical case reports. 6(1):121.

  ABSTRACT: INTRODUCTION: Perforation caused by CE impaction is extremely rare and, at present, only 5 cases of perforation from CE impaction are reported in the literature. CASE PRESENTATION: WeABSTRACT: INTRODUCTION: Perforation caused by CE impaction is extremely rare and, at present, only 5 cases of perforation from CE impaction are reported in the literature. CASE PRESENTATION: We report here 2 cases of patients with undiagnosed small bowel stenosis presenting acute perforation after CE. Strictures in the small bowel were likely the inciting mechanism leading to acute SB obstruction and subsequent distension and perforation above the capsule in the area of maximal serosal tension. Case 1 was a 55-years-old Italian woman who underwent CE because of recurrent postprandial cramping pain and iron deficiency anemia, in the setting of negative abdominal US, upper endoscopy, colonoscopy, and small bowel follow-through radiograph. She developed a symptomatic bowel obstruction approximately 36 hours after ingestion of CE. Emergent surgery was performed to remove the capsule, which was impacted at a previously undiagnosed structuring ileal adenocarcinoma leading to perforation. Case 2 was a 60-year-old Italian male with recurrent episodes of abdominal pain and diarrhea who underwent CE after conventional modalities, including comprehensive blood and stool studies, CT, abdominal ultrasound, upper endoscopy, colonoscopy, barium enema, and small bowel follow-through, were not diagnostic. The patient developed abdominal distension, acute periumbilical pain, fever and leukocytosis 20 hours after capsule ingestion. Emergent surgery was performed to remove the capsule, which was impacted at a previously undiagnosed ileal Crohn's stricture leading to perforation. CONCLUSIONS: The present report shows that although the risk of acute complication is very low, the patient should be informed of the risks involved in capsule endoscopy, including the need for emergency surgical exploration.

• A 43 year old woman on Triptorelin presenting with Pseudotumor Cerebri - A Case Report.

  Authors: Uday Kumar Bhatt, Imran Haq, Venkata S Avadhanam, Kim Bibby

  Journal of medical case reports. 6(1):122.

  ABSTRACT: INTRODUCTION: To our knowledge, this is the first time Triptorelin has been reported to cause BIH. Case Presentation: A 43 years old Caucasian woman who suffered from chronic menorrhagiaABSTRACT: INTRODUCTION: To our knowledge, this is the first time Triptorelin has been reported to cause BIH. Case Presentation: A 43 years old Caucasian woman who suffered from chronic menorrhagia was commenced on Triptorelin, a gonadotrophin releasing hormone (GnRH) analogue. Three days later, she developed gradually worsening headaches accompanied by bilateral visual disturbances. Examination revealed bilateral papilledema and enlarged blind spots on visual fields. A diagnosis of benign intracranial hypertension (BIH) was made confirmed on MRI scan. CONCLUSION: We recommend that the high risk patients (female overweight patients of reproductive age group) who are using any GnRH analogue (e.g. Triptorelin) should be periodically monitored for the possible development of BIH. KEYWORDS: benign intracranial hypertension, pseudotumor cerebri, GnRH analogue, Triptorelin.

• Haemophilus pittmaniae respiratory infection in a patient with siderosis: a case report.

  Authors: Mathilde Bouc Boucher, Marielle Bedotto, Carine Couderc, Carine Gomez, Martine Reynaud-Gaubert, Michel Drancourt

  Journal of medical case reports. 6(1):120.

  ABSTRACT: INTRODUCTION: Haemophilus pittmaniae had been described in 2005 as a new species distantly related to Haemophilus parainfluenzae. This member of the human saliva microbiota has also beenABSTRACT: INTRODUCTION: Haemophilus pittmaniae had been described in 2005 as a new species distantly related to Haemophilus parainfluenzae. This member of the human saliva microbiota has also been further isolated from various body fluids without formal description of the patients. CASE PRESENTATION: We report here on a H. pittmaniae isolate made from a sputum specimen collected in a 58-year-old man suffering from a massive fibrotic form of siderosis and awaiting lung transplantation. Identification of the isolate was ascertained by MALDI-TOF mass spectrometry and 16 rRNA gene sequencing. H. pittmaniae was considered as responsible for worsening the chronic respiratory failure and was successfully treated with oral amoxicillin. CONCLUSION: H. pittmaniae should be regarded as a new pathogen responsible for respiratory tract infection in patients with chronic lung diseases.

• Intrasellar xanthogranuloma presenting as pituitary dysfunction: a case report.

  Authors: Takamasa Nishiuchi, Koji Murao, Hitomi Imachi, Yoshio Kushida, Reiji Haba, Nobuyuki Kawai, Takashi Tamiya, Toshihiko Ishida

  Journal of medical case reports. 6(1):119.

  ABSTRACT: INTRODUCTION: Differentiation of cystic mass lesions of the sellar and parasellar regions may pose a diagnostic dilemma for physicians, neurosurgeons, radiologists and pathologists involvedABSTRACT: INTRODUCTION: Differentiation of cystic mass lesions of the sellar and parasellar regions may pose a diagnostic dilemma for physicians, neurosurgeons, radiologists and pathologists involved in treating patients with these entities. A considerable number of tumors previously identified as craniopharyngiomas may, in fact, have been xanthogranulomas. We report a case of pituitary dysfunction caused by xanthogranuloma of the intrasellar region. CASE PRESENTATION: A 47-year-old man of Japanese descent presented to our institution with a tumor located exclusively in the intrasellar region which manifested as severe hypopituitarism. Magnetic resonance imaging revealed a clearly defined intrasellar mass that was heterogeneously hyperintense on T1-weighted images and markedly hypointense on T2-weighted images. We preoperatively diagnosed the patient with Rathke's cleft cyst or non-functioning pituitary adenoma. Although the tumor was completely removed using a transsphenoidal approach, the improvement of the patient's endocrine function was marginal, and continued endocrine replacement therapy was needed. Postoperatively, a histological examination revealed the tumor to be a xanthogranuloma of the intrasellar region. His visual field defects and headache improved. CONCLUSION: Because diagnosis depends on surgical intervention and xanthogranulomas of the intrasellar region are very rare, the natural history of xanthogranuloma is still unknown. Therefore, this entity is difficult to diagnose preoperatively. We suggest that xanthogranuloma should be included in the differential diagnosis, even in the case of sellar lesions, to formulate appropriate postoperative management and improve endocrine outcomes.

• Homonymous Quadrantanopsia as the First Manifestation of Cerebral Metastasis of Invasive Mole: a case report.

  Authors: De-Lu Song, Yong Zhong, Feng Feng, Yuan Li, Meng-Hui Li

  Journal of medical case reports. 6(1):117.

  ABSTRACT: INTRODUCTION: Homonymous quadrantanopsia results from retrochiasmal lesions in the visual pathway. Invasive mole is a benign tumor that arises from myometrial invasion of a hydatidiformABSTRACT: INTRODUCTION: Homonymous quadrantanopsia results from retrochiasmal lesions in the visual pathway. Invasive mole is a benign tumor that arises from myometrial invasion of a hydatidiform mole via direct extension through tissue or venous channels. Cerebral metastasis of invasive mole is rare and there has been no report demonstrating homonymous quadrantanopsia as the first manifestation of metastasis in any trophoblastic neoplasms. CASE PRESENTATION: We report the case of a 31-year-old Asian woman who presented with right homonymous inferior quadrantanopsia from the mass effect of a solitary cerebral metastasis from an invasive mole. A magnetic resonance image (MRI) of the brain showed a metastatic tumor in the left occipital lobe. The visual field improved slightly after chemotherapy. There was a reduction in the tumor size and the surrounding edema. This is the first case report demonstrating that homonymous quadrantanopsia should be included in the manifestations of the metastasis of an invasive mole. CONCLUSIONS: The presentation of homonymous quadrantanopsia must alert ophthalmologists to conduct a complete medical history and arrange specialist consultation.

• Plasmapheresis leading to remission of refractory nephrotic syndrome due to fibrillary glomerulonephritis: a case report.

  Authors: Rainer U Pliquett, Peter Mohr, Badr El Din Mukhtar, Matthias Girndt, Silke Markau

  Journal of medical case reports. 6(1):116.

  ABSTRACT: INTRODUCTION: Fibrillary glomerulonephritis (FibGN) is characterized by extracellular deposition of Congo-red negative microfibrils within the glomerular mesangium leading to grossABSTRACT: INTRODUCTION: Fibrillary glomerulonephritis (FibGN) is characterized by extracellular deposition of Congo-red negative microfibrils within the glomerular mesangium leading to gross proteinuria or nephrotic syndrome. After diagnosis of FibGN, end-stage renal disease (ESRD) occurs within four years in 50% of patients. Case Presentation A 36-year-old Caucasian female with proteinuria and intermittent nephrotic syndrome due to fibrillary glomerulonephritis intermittently received immunosuppressive therapies including glucocorticoids, mycophenolate mofetil, and rituximab over 10 years. However, disease remission was not achieved, progressive kidney injury developed. Ultimately, in chronic kidney disease stage IV (KIDGO), three cycles of plasmapheresis of five to seven sessions each were performed every 3 to 4 months reducing steady-state proteinuria from 7 g/d to less than 1 g/d. Here, plasmapheresis led to a remission of nephrotic syndrome associated with fibrillary glomerulonephritis. CONCLUSION: Plasmapheresis therapy is proposed as a further option for immunosuppressant-refractory fibrillary glomerulonephritis.

• Small-bowel necrosis complicating a cytomegalovirus-induced superior mesenteric vein thrombosis in an immunocompetent patient: a case report.

  Authors: John Kalaitzis, Paris Basioukas, Evagelia Karzi, Charalampos Markakis, Emmanouil Liarmakopoulos, Andreas Hadjimarkou, Spyros Rizos

  Journal of medical case reports. 6(1):118.

  ABSTRACT: INTRODUCTION: Superior mesenteric venous thrombosis as a result of acute cytomegalovirus infection is rare, with only a few cases reported in the literature. CASE PRESENTATION: We presentABSTRACT: INTRODUCTION: Superior mesenteric venous thrombosis as a result of acute cytomegalovirus infection is rare, with only a few cases reported in the literature. CASE PRESENTATION: We present the case of a 40-year-old Caucasian man who was admitted to our hospital with a 5-day history of fever. His serological test and pp65 antigen detection of cytomegalovirus were positive, suggesting acute infection. On the sixth day after his admission, the patient complained of acute, progressive abdominal pain. Abdominal computed tomography revealed acute superior mesenteric venous thrombosis. An emergency laparotomy showed diffuse edema and ischemic lesions of the small bowel and its associated mesentery with a 50-cm-long segmental infarction of the proximal jejunum. An extensive enterectomy of about 100cm of jejunum that included the necrotic segment was performed, followed by an end-to-end anastomosis. Anti-coagulation therapy was administered pre-operatively in the form of small-fractionated heparin and continued postoperatively. The patient had an uneventful recovery and was discharged on the 11th postoperative day. CONCLUSION: Acute cytomegalovirus infection can contribute to the occurrence of mesenteric venous thrombosis in immunocompetent patients. It is important for physicians and internists to be aware of the possible thrombotic complications of cytomegalovirus infection. A high level of clinical suspicion is essential to successfully treat a potentially lethal condition such as superior mesenteric venous thrombosis.

• Chromophobe renal cell carcinoma with prolonged response to targeted therapy: a case report.

  Authors: Vasiliki Michalaki, Constantine Gennatas

  Journal of medical case reports. 6(1):115.

  ABSTRACT: INTRODUCTION: Chromophobe renal cell carcinoma is universally accepted as a distinct subtype of renal cell carcinoma. There are conflicting reports on prognosis, and few data on response toABSTRACT: INTRODUCTION: Chromophobe renal cell carcinoma is universally accepted as a distinct subtype of renal cell carcinoma. There are conflicting reports on prognosis, and few data on response to treatment exist. Currently, we do not have any effective treatment for the metastatic disease apart from surgical procedures. Current strategies are based on results obtained in the context of clear cell-type renal cell carcinoma. Separate trials for rare histologies seem unfeasible and are unlikely to be performed. For these cases, clinical observations are an important part for advancing therapeutic insight. In recent years, novel tyrosine kinase inhibitors have been shown to have significant clinical benefit in advanced renal cell carcinoma. CASE PRESENTATION: We present the case of a 43-year-old Caucasian man with advanced chromophobe renal cell carcinoma treated with the tyrosine kinase inhibitor sunitinib and subsequently with sorafenib and the mammalian target of the rapamycin inhibitor everolimus, achieving a prolonged response and significant clinical benefit. We report an unexpectedly high efficacy of everolimus as a third-line treatment in a patient with metastatic chromophobe renal cell carcinoma. CONCLUSIONS: Up to now, no published data from randomized clinical studies have addressed the question of efficacy of everolimus as a third-line treatment after failure of tyrosine kinase inhibitors . To the best of our knowledge, this case is the first report of chromophobe renal cell carcinoma treated successfully with sequential tyrosine kinase and mammalian target of rapamycin inhibitor therapy. Notably, the time on treatment with sunitinib exceeded four years. The case presented here implies that everolimus could be a viable option for patients with metastatic chromophobe renal cell carcinoma.

• Use of endovascular embolization to treat a ruptured arteriovenous malformation in a pregnant woman: a case report.

  Authors: Walter J Jermakowicz, Luke D Tomycz, Mayshan Ghiassi, Robert J Singer

  Journal of medical case reports. 6(1):113.

  ABSTRACT: INTRODUCTION: Pregnancy has been linked to increased rates of arteriovenous malformation rupture. This link remains a matter of debate and very few studies have addressed the management ofABSTRACT: INTRODUCTION: Pregnancy has been linked to increased rates of arteriovenous malformation rupture. This link remains a matter of debate and very few studies have addressed the management of arteriovenous malformation in pregnancy. Unruptured arteriovenous malformations in pregnant woman generally warrant conservative management due to the low rupture risk. When pregnant women present with ruptured arteriovenous malformation, however, surgery is often indicated due to the increased risk of re-rupture and associated mortality. Endovascular embolization is widely accepted as an important component of contemporary, multimodal therapy for arteriovenous malformations. Although rarely curative, embolization can facilitate subsequent surgical resection or radiosurgery. No previous reports have been devoted to the endovascular management of an arteriovenous malformation in a pregnant woman. CASE PRESENTATION: A 23-year-old Caucasian woman presented with headache and visual disturbance after the rupture of a left parieto-occipital arteriovenous malformation in the 22nd week of her pregnancy. After involving high-risk obstetric consultants and taking precautions to shield the fetus from ionizing radiation, we proceeded with a single stage of endovascular embolization followed soon after by open surgical resection of the arteriovenous malformation. There were several goals for the angiography in this patient: to better understand the anatomy of the arteriovenous malformation, including the number and orientation of feeding arteries and draining veins; to look for associated pre-nidal or intra-nidal aneurysms; and to partially embolize the arteriovenous malformation via safely-accessible feeders to facilitate surgical resection and minimize blood loss and operative morbidity. CONCLUSION: From our experience and review of the literature, we maintain that ruptured arteriovenous malformations in pregnancy may be managed in a similar manner to those in non-gravid women. Precautions should be taken to reduce the operative time and exposure of the fetus to ionizing radiation and contrast agents.

• Spontaneous splenic rupture and Anisakis appendicitis presenting as abdominal pain: a case report.

  Authors: Joaquin Valle, Elisa Lopera, Maria Eugenia Sanchez, Rocio Lerma, Javier Lopez Ruiz

  Journal of medical case reports. 6(1):114.

  ABSTRACT: INTRODUCTION: Anisakidosis, human infection with nematodes of the family Anisakidae, is caused most commonly by Anisakis simplex. Acquired by the consumption of raw or undercooked marineABSTRACT: INTRODUCTION: Anisakidosis, human infection with nematodes of the family Anisakidae, is caused most commonly by Anisakis simplex. Acquired by the consumption of raw or undercooked marine fish or squid, anisakidosis occurs where such dietary customs are practiced, including Japan, the coastal regions of Europe and the United States. Rupture of the spleen is a relatively common complication of trauma and many systemic disorders affecting the reticuloendothelial system, including infections and neoplasias. A rare subtype of rupture occurring spontaneously and arising from a normal spleen has been recognized as a distinct clinicopathologic entity. Herein we discuss the case of a woman who presented to our institution with appendicitis secondary to Anisakis and spontaneous spleen rupture. CASE PRESENTATION: We report the case of a 53-year-old Caucasian woman who presented with hemorrhagic shock and abdominal pain and was subsequently found to have spontaneous spleen rupture and appendicitis secondary to Anisakis simplex. She underwent open surgical resection of the splenic rupture and the appendicitis without any significant postoperative complications. Histopathologic examination revealed appendicitis secondary to Anisakis simplex and splenic rupture of undetermined etiology. CONCLUSIONS: To the best of our knowledge, this report is the first of a woman with the diagnosis of spontaneous spleen rupture and appendicitis secondary to Anisakis simplex. Digestive anisakiasis may present as an acute abdomen. Emergency physicians should know and consider this diagnosis in patients with ileitis or colitis, especially if an antecedent of raw or undercooked fish ingestion is present. Spontaneous rupture of the spleen is an extremely rare event. Increased awareness of this condition will enhance early diagnosis and effective treatment. Further research is required to identify the possible risk factors associated with spontaneous rupture of the spleen.

• Successful toric intraocular lens implantation in a patient with induced cataract and astigmatism after posterior chamber toric phakic intraocular lens implantation: a case report.

  Authors: Kazutaka Kamiya, Akio Nakamura, Hideyuki Miyake, Hiroyuki Nishimoto, Kimiya Shimizu

  Journal of medical case reports. 6(1):109.

  ABSTRACT: INTRODUCTION: We report the case of a patient in whom simultaneous toric phakic intraocular lens removal and phacoemulsification with toric intraocular lens implantation were beneficial forABSTRACT: INTRODUCTION: We report the case of a patient in whom simultaneous toric phakic intraocular lens removal and phacoemulsification with toric intraocular lens implantation were beneficial for reducing pre-existing astigmatism and acquiring good visual outcomes in eyes with implantable collamer lens-induced cataract and astigmatism. CASE PRESENTATION: A 53-year-old woman had undergone toric implantable collamer lens implantation three years earlier. After informed consent was obtained, we performed simultaneous toric implantable collamer lens removal and hacoemulsification with toric intraocular lens implantation. Preoperatively, the manifest refraction was 0, -0.5x15, with an uncorrected visual acuity of 0.7 and a best spectacle-corrected visual acuity of 0.8. Postoperatively, the manifest refraction was improved to 0, -0.5x180, with an uncorrected visual acuity of 1.2 and a best spectacle-corrected visual acuity of 1.5. No vision-threatening complications were observed. CONCLUSION: Toric intraocular lens implantation may be a good surgical option for the correction of spherical and cylindrical errors in eyes with implantable collamer lens-induced cataract and astigmatism.

• Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child : a case report.

  Authors: Kotb Abbass Metwalley, Hekma Saad Fargaley

  Journal of medical case reports. 6(1):110.

  ABSTRACT: INTRODUCTION: Familial glucocorticoid deficiency (FGD), or hereditary unresponsiveness to adrenocorticotropic hormone (ACTH),is a rare autosomal recessive disease characterized byABSTRACT: INTRODUCTION: Familial glucocorticoid deficiency (FGD), or hereditary unresponsiveness to adrenocorticotropic hormone (ACTH),is a rare autosomal recessive disease characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency.It may present in infancy or early childhood with hyperpigmentation,failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Here we report an eighteen month old Egyptian child with familial glucocorticoid deficiency. CASE PRESENTATION: An 18-month-old Egyptian boy was referred to our institution for evaluation of generalized hyerpigmentation of the body associated with recurrent convulsions, one of his siblings who had died at age of nine months had generalized hyperpigmention of the body.The initial clinical examination revealed generalized symmetric deep hyperpigmentation of the body as well as hypotonia, normal blood pressure and normal male genitalia. He had low blood glucose and cortisol levels ,normal aldesterone and high adrenocorticotropic hormone levels(ACTH). Based on above mentioned data a provisional diagnosis of familial glucocorticoid deficiency(FGD) was made which was confirmed by molecular genetics study. Oral hydrocortisone treatment at a dose of 10 mg/m2/day was started. The child was seen after 2 months after starting treatment, the hyperpigmentation was less in comparison with his initial presentation and his blood sugar and cortisol levels were normalized. CONCLUSION: Familial glucocorticoid deficiency is a rare treatable disease that can be easily missed due to nonspecific presentations. The consequences of delayed diagnosis and treatment are associated with high rate of morbidity and mortality.

• Stent implantation for a totally occluded right coronary artery in a 6-year-old boy after Kawasaki disease: a case report.

  Authors: Ya-Chi Hsu, Kae-Woei Liang, Ming-Chih Lin, Yun-Ching Fu, Sheng-Ling Jan

  Journal of medical case reports. 6(1):111.

  ABSTRACT: INTRODUCTION: Coronary stenting is considered less feasible for children under 12 years old previously due to limitation of vascular access. We report a 6-year-old boy who successfullyABSTRACT: INTRODUCTION: Coronary stenting is considered less feasible for children under 12 years old previously due to limitation of vascular access. We report a 6-year-old boy who successfully underwent stent implantation for his totally occluded right coronary artery. CASE PRESENTATION: A 6-year 9-month-old Taiwanese boy was found to be complicated with giant aneurysms after acute episode of Kawasaki disease. The angiography revealed totally occluded middle right coronary artery. A 0.014 inch guidewire was advanced to cross the totally occluded site. After pre-dilating the middle portion of right coronary artery with the 1.5mm balloon right coronary artery stenting was accomplished using a 2.5 mm X 28 mm and a 2.5 mm X 18 mm bare metal stent. Final angiography demonstrated no residual stenosis or dissection. CONCLUSION: Coronary stenting could be a therapeutic option for children as young as 6-year-old. Close follow-up is mandatory because the long-term outcome is still unclear especially in such a small child.

• Fabry disease presenting with sudden hearing loss and otosclerosis: a case report.

  Authors: Giovanni Felisati, Elisabetta Salvatici, Carlotta Pipolo, Sara Portaleone, Enrica Riva, Marcello Giovannini

  Journal of medical case reports. 6(1):112.

  ABSTRACT: INTRODUCTION: Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affectingABSTRACT: INTRODUCTION: Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes. CASE PRESENTATION: We describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis. This case demonstrates the partial and transient beneficial effect of standard treatment for sudden hearing loss not related to Fabry disease and analyzes the possible connection between typical Fabry disease inner-ear lesions and otosclerosis. Whereas hearing loss has been described in connection with Fabry disease, otosclerosis-associated hearing loss in Fabry disease has not yet been described. CONCLUSIONS: Although progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available. The lack of literature concerning the pathogenesis of the otological involvement in Fabry disease makes it impossible to identify a connection between the latter and otosclerosis. Therefore, this report may help to reinforce the importance of a thorough evaluation of hearing in patients with Fabry disease and may be of help with therapeutic decision-making.

• Polycystic Liver Disease presenting with an exudative pleural effusion: a case report.

  Authors: Kerry Woolnough, Altav Palejwala, Simon Bramall

  Journal of medical case reports. 6(1):107.

  ABSTRACT: INTRODUCTION: Polycystic liver disease is asymptomatic in 95% of patients. In the remaining 5% it causes symptoms due to local mass effect of the polycystic liver. We describe a patient whoABSTRACT: INTRODUCTION: Polycystic liver disease is asymptomatic in 95% of patients. In the remaining 5% it causes symptoms due to local mass effect of the polycystic liver. We describe a patient who presented with symptoms of a pleural effusion and was also found to have polycystic liver disease. The effusion recurred despite repeated efforts at drainage and only resolved following surgical debridement of the cystic liver. CASE PRESENTATION: A 50 year old Caucasian female presented with a two week history of increasing dyspnoea. Examination revealed a large right pleural effusion and gross hepatomegaly. Ultrasound confirmed a large polycystic liver and diagnostic thoracocentesis revealed an exudate, which was sterile to culture. The pleural effusion proved refractory to drainage and the patient underwent surgery to deroof the main hepatic cysts in an attempt to reduce the pressure on the right diaphragm. Histology was compatible with that of polycystic liver disease and no evidence of malignancy was found. Following surgery the patient had no recurrence of her effusion and, to date, has remained asymptomatic from her polycystic liver disease. CONCLUSION: This case report illustrates that an exudative pleural effusion is a rare complication of polycystic liver disease. It is most likely due to the pressure effects of the polycystic liver and subsequent disruption of sub-diaphragmatic capillaries. This case demonstrates that surgical debulking of the cysts is required to resolve these effusions.

• Novel use of an exchange catheter to facilitate intubation with an aintree catheter in a tall parturient with a predicted difficult airway: a case report.

  Authors: Shaun E Gruenbaum, Benjamin F Gruenbaum, Sergey Tsaregorodtsev, Michael Dubilet, Israel Melamed, Alexander Zlotnik

  Journal of medical case reports. 6(1):108.

  ABSTRACT: INTRODUCTION: The Aintree intubating catheter (Cook(R) Medical Inc., Bloomington, IN, USA) has been shown to successfully facilitate difficult intubations when other methods have failed.ABSTRACT: INTRODUCTION: The Aintree intubating catheter (Cook(R) Medical Inc., Bloomington, IN, USA) has been shown to successfully facilitate difficult intubations when other methods have failed. The Aintree intubating catheter (Cook(R) Medical Inc., Bloomington, IN, USA) has a fixed length of 56cm, and it has been suggested in the literature that it may be too short for safe use in patients who are tall. CASE PRESENTATION: We present the case of a 32-year-old, 180cm tall Caucasian woman with a predicted difficult airway who presented to our facility for an emergency cesarean section. After several failed intubation attempts via direct laryngoscopy, an airway was established with a laryngeal mask airway. After delivery of a healthy baby, our patient's condition necessitated tracheal intubation. A fiber-optic bronchoscope loaded with an Aintree intubating catheter (Cook(R) Medical Inc., Bloomington, IN, USA) was passed through the laryngeal mask airway into the trachea until just above the carina, but was too short to safely allow for the passage of an endotracheal tube. CONCLUSIONS: We present a novel technique in which the Aintree intubating catheter (Cook(R) Medical Inc., Bloomington, IN, USA) was replaced with a longer (100cm) exchange catheter, over which an endotracheal tube was passed successfully into the trachea.

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