Background
Castleman’s disease is a rare lymphoproliferative disorder. It typically presents as mediastinal masses and causes a wide range of clinical symptoms. Histologically, Castleman’s disease is classified as either a hyalinic vascular or plasma cell variant. The prognosis mainly depends on the histological type and broadly varies. We herein report our sonographic findings in a patient with Castleman’s disease, including gray-scale ultrasonography, color Doppler ultrasonography, and sonoelastography ultrasonography, which have not been previously reported in the literature. These findings allowed for a preoperative diagnosis and avoidance of overly aggressive therapy.
Case presentation
A 28-year-old European female patient with unicentric Castleman’s disease of hyalinic vascular type (HV) restricted to the axilla was referred to us because of a 4-month history of a painless, solitary mass located in the left axilla. The patient’s medical history was unremarkable.
Conclusion
Castleman’s disease is a pathologic entity of unknown etiology and pathogenesis. In this case report of unicentric HV-type CD, we demonstrate that typical sonographic findings can lead to a preoperative diagnosis of Castleman’s disease. Core needle biopsy usually allows for a final diagnosis and helps to avoid unnecessary operations and overtreatment.
doi:10.1186/1756-0500-6-97
PMCID: PMC3601982
PMID: 23497665
Castleman’s disease; Giant lymph node hyperplasia; Ultrasonography; Core needle biopsy
Background
Female patients who present with ascites, adnexal masses and elevated CA125 levels are typically presumed to have advanced ovarian carcinoma. This can lead to radical surgery with its associated morbidity. An important differential diagnosis to consider is tuberculous peritonitis which can present in a similar manner and responds well to medical treatment.
Case presentation
A 44 year old female presented with abdominal distension, weight loss and low grade fever. Her CA125 level was 909 U/ml. Imaging studies revealed an adnexal lesion and ascites. The lungs appeared normal and a Mantoux test was negative. Ovarian malignancy was highly suspected. Cytology of ascites was negative for malignant cells. The patient subsequently developed a large pleural effusion which was drained and negative for malignant cells and acid fast bacilli. Repeat imaging revealed a ‘tree in bud’ appearance of the lung parenchyma and dense ascites. Histology from diagnostic laparotomy revealed caseating granulomas with epithelioid cells and Langhan’s type giant cells. The patient responded well to antituberculosis therapy with normalization of CA125 levels, confirming the diagnosis of peritoneal tuberculosis.
Conclusion
CA125 levels lack specificity, with elevated levels encountered in many benign and malignant conditions, including tuberculosis. There are a few discriminating features that suggest a diagnosis of tuberculous peritonitis rather than ovarian carcinoma. Apart from chest findings which may not always be present, smooth peritoneal thickening and a dirty omentum on CT favours a diagnosis of peritoneal tuberculosis compared with nodular thickening of the peritoneum and omentum in peritoneal carcinomatosis. PCR and ADA testing of ascitic fluid can also be helpful. When these tests are negative or unavailable then diagnostic laparoscopy or laparotomy should be performed with the aid of frozen section to avoid unnecessary radical surgery in cases of peritoneal tuberculosis.
doi:10.1186/1756-0500-6-88
PMCID: PMC3599504
Abdominal disseminated tuberculosis; Mimic ovarian carcinoma; CA125; Ascites; Adnexal mass
Background
Invasive fungal infections caused by uncommon fungi have increased in recent years. Hospitalized low-birth-weight infants are at high risk for neonatal fungal infections. Pichia fabianii is a rare pathogen causing blood infection, which has reportedly caused only 4 cases of fungemia and 1 case of endocarditis worldwide. Here, we describe the first case of a P. fabianii blood infection in a premature infant in China.
Case presentation
On July 28th, a low-birth-weight (LBW, 1760 g) female infant born at 33+4 weeks of gestation was admitted to the pediatric intensive care unit with mild neonatal asphyxia. Until August 2nd, a mechanical respirator was used to assist respiration under the Continuous Positive Airway Pressure (CPAP) model. The baby had an increased body temperature and a fever. To prevent infection, Ceftriaxone Sodium (CS) was administered intravenously for three days, after which Cefepime was administered until August 13th. Chest X-rays showed suspected plaque-like shadows in the right lung. Blood cultures twice tested positive for fungal infection caused by Candida pelliculosa (recognized as Pichia fabianii later), which is first mis-identified by commercial kit. Hence, intravenous fluconazole was administered. However, cultures of other body fluids (e.g., urine, feces and sputum) tested negative for fungal infection. Routine tests and biochemistry of cerebrospinal fluid (CSF) were normal. Latex agglutination of Cryptococcus neoformans and fungi cultures in the CSF were also negative. After 14 days of intravenous fluconazole, blood was re-cultured, the result of which was negative. On August 30th, intravenous fluconazole was suspended. On Sep 3rd, the infant left the hospital in good health.
Conclusions
This is the first case of a blood infection caused by P. fabianii in a LBW premature female infant in China. Risk factors for fungal infection include premature birth, as well as mechanical invasive operation and antibacterial drug usage. Whether such risk factors necessitate prophylactic use of antifungal drugs is an important question that has yet to be fully addressed. Additionally, the pathogen P. fabianii collected in this study was resistant to amphotericin B (AMB) and itraconazole (ITR). With the exception of the azole-resistant endocarditis case, all other cases have not demonstrated such a resistance. Finally, commercial biochemical methods used in routine practice are limited in their ability to identify P. fabianii. Molecular genetic based methods are imperative for identification of uncommon fungal species from disseminated infections.
doi:10.1186/1756-0500-6-77
PMCID: PMC3599298
Pichia fabianii; Fungemia; Infant infection
Background
During pregnancy women are at increased risk of severe complications to influenza infection, including death of mother or fetus, especially if chronic comorbid medical conditions such as diabetes mellitus are present.
Case presentation
A 36 years old Caucasian pregnant woman with type 1 diabetes underwent mechanical ventilation in gestation week 27 for severe respiratory failure due to influenza and pneumonia. For three weeks during and following her most severe illness, fetal growth could not be detected and the umbilical flows and amniotic fluid volumes were affected too. The possibility of preterm delivery and extracorporeal membrane oxygenation (ECMO) treatment were considered, however the patient and her fetus recovered gradually on conservative treatment. Under close surveillance the pregnancy continued until term, with delivery of an infant with appropriate weight for gestational age.
Conclusion
Preterm delivery and decreased birth weight were reported for women with antepartum pneumonia. Mechanical ventilation and ECMO treatment for severe respiratory failure in pregnancy are life threatening conditions and have been associated with preterm delivery. It remains uncertain if delivery improves the respiratory status of a critically ill woman, and the fetal condition is likely to improve, if the maternal condition is stabilized.
Severe respiratory insufficiency requiring mechanical ventilation in a diabetic pregnant woman with influenza was successfully treated conservatively. Despite clear signs of impaired fetal condition in the acute phase, watchful waiting resulted in delivery of a normal weight infant at term.
doi:10.1186/1756-0500-6-62
PMCID: PMC3583672
PMID: 23414816
Pregnancy; Diabetes; Influenza; Pneumonia; Mechanical ventilation; Pregnancy outcome
Background
Operative management of all gunshot’s traumas carries a high rate of unwarranted interventions that are known to cause serious complications. Selective nonoperative management is thus being increasingly practiced which has reduced these avoidable interventions. Physical examination and computed tomography scans are most sensitive in assessing need of laparotomy. Assessment of internal injuries on the basis of an estimated bullet trajectory is often practiced but has seldom been studied. We report a case of conservative management of a thoraco abdominal gun shot patient where an estimated bullet trajectory was indicative of serious injuries. To the best of our knowledge this is the first report of a thoraco abdominal gunshot that, despite of a protracted trajectory, had no sequelae and was thus managed nonoperatively.
Case presentation
A 30 year old male patient having height of 180 cm and weight of 70 kg (Body Mass Index 21.6) presented with complaint of a penetrating injury at left side of upper torso. The patient had no symptoms or obvious bleeding and was vitally stable. On examination a 1 cm × 1 cm entry wound at the left 3rd intercostal space in the mid clavicular line was identified. The chest and abdomen were otherwise unremarkable on examination. The chest radiograph displayed clear lung fields. The abdominal radiographs displayed a bullet in the upper left quadrant of the abdomen lateral to the spine. The bullets estimated trajectory from 3rd intercostal space and its lodgment in the abdomen lateral to the spine indicated severe visceral injury. The computed tomography scan showed that the bullet was lodged postero-medially to the left kidney. All thoracic, intra peritoneal and retroperitoneal visceral structures were identified to be normal. The patient remained clinically and vitally stable, hence was managed nonoperatively being discharged after 48 h of observation.
Conclusion
From this case we conclude that decision for managing gun shot patients should be based on objective clinical and diagnostic findings. We recommend further investigation of the predictability of estimated trajectory for visceral injuries and consequent operative intervention as we found it to be misleading in this case.
doi:10.1186/1756-0500-6-63
PMCID: PMC3598892
PMID: 23414905
Background
Lifestyle modifications including exercise are beneficial and fundamentally part of the therapy of metabolic syndrome, although in most of the cases medical interventions are also required to reach the target values in the laboratory parameters. Statin and fibrate combination therapy is considered to be safe and effective in dyslipidaemia and metabolic syndrome. However, increased physical activity can enhance the statin and fibrate-associated myopathy. Myositis and the rare but life-threatening rhabdomyolysis are causing a conflict between exercise and statin-fibrate therapy, which is yet to be resolved.
Case presentation
We present a case of a 43-year-old Caucasian man with metabolic syndrome who had the side-effect of exercise and drug-associated myositis. The patient had only transient moderate complaints and rhabdomyolysis could be avoided with the one-month creatine kinase control, a test which is not recommended routinely by the new guidelines.
Conclusions
We would like to turn the spotlight on the possible complications of statin-fibrate therapy and exercise, when strict follow-up is recommended. In this condition high number of patients can be affected and the responsibility of general practitioners is accentuated.
doi:10.1186/1756-0500-6-52
PMCID: PMC3571969
PMID: 23388500
Metabolic syndrome; Exercise; Statin-fibrate combination therapy; Myopathy; Creatine kinase
Background
Cytomegalovirus infection of the gastrointestinal tract is common and is more often seen in patients with acquired immunodeficiency syndrome (AIDS). Although small bowel infection is less common than infection of other parts of the gastrointestinal system, it may lead to perforation, an acute complication, with dreadful results.
Case presentation
This article reports a case of Cytomegalovirus ileitis with multiple small bowel perforations in a young man with human immunodeficiency virus (HIV) infection. The patient developed abdominal pain with diarrhea and fever, and eventually acute abdomen with pneumoperitoneum. The patient had poor prognosis and deceased despite the prompt surgical intervention and the antiviral therapy he received. At pathology a remarkable finding was the presence of viral inclusions in smooth muscle fibers. The destruction of muscle cells was the main cause of perforation.
Conclusion
Morbidity and mortality associated with perforation from CMV enteritis in AIDS patients are high and the life expectancy is short. Cytomegalovirus disease is multifocal; therefore, excision of one portion of the gastrointestinal tract may be followed by a complication elsewhere. Our case elucidate that muscle cell destruction by the virus is a significant cause leading to perforation.
doi:10.1186/1756-0500-6-45
PMCID: PMC3568738
PMID: 23379792
CMV enteritis; Small bowel perforation; HIV infection
Background
Intussusception is one of the less common causes of intestinal obstruction among adults. It is usually covert (concealed) in its clinical presentation. The ileo-colic type with accompanying anal protrusion is extremely rare. The case at hand is that of both an ileo-colic intussusception with anal protrusion, in the presence of a persistence of both the ascending and descending mesocolons; a case possibly yet to be documented in literature.
Case presentation
A 32 year-old African-Ugandan woman presented with complaints of a mass protruding per anus for 2 weeks. It was reducible and associated with colicky abdominal pain, loose stools, and bloody-mucoid discharge per anus. She had previously had a one and a half month’s history of abdominal pain; periodically continuous, while other times colicky in character. Examination and investigations revealed an intussusception with a partial intestinal obstruction. At laparotomy she was found to have an ileo-colic intussusception with a freely mobile colon throughout its length. There were persistent ascending and descending mesocolons, and absent hepatocolic and splenocolic ligaments. The intussusceptum was ‘milked’ but not completely reducible. A right hemicolectomy was done, with ileo-transverse colonic anastomosis. Histopathological examination revealed no preexisting pathologic lesion as a lead point.
Conclusion
The persistence of the ascending and descending mesocolons (azygosis) best explains the anal protrusion of an ileo-colic intussusception with partial obstruction. In this case zygosis (normal retroperitoneal ascending and descending colonic positioning) failed embryologically. This experience is particularly beneficial to general surgeons, radiologists, gastroenterologists, colorectal surgeons and pathologists.
doi:10.1186/1756-0500-6-42
PMCID: PMC3565987
PMID: 23375100
Ileo-colic intussusception; Anal protrusion; Persistent mesocolon; Azygosis; Zygosis
Background
In 2009, a trigger role of cytomegalovirus (CMV) was shown in the development of ulcerative colitis (UC) in mice. Fifteen cases of synchronous onset of CMV colitis and UC have been reported in literature. A careful prospective and retrospective survey identified CMV colitis in newly diagnosed UC patients at 4.5% (3/65 cases) and 8.2% (5/61 cases), respectively. This means that a majority of synchronous CMV colitis may be missed in newly diagnosed UC patients in routine practice. Such a case is presented.
Case presentation
A 50-year-old woman, with a history of right partial mastectomy two years ago, had a persistent high fever for 9 days, after which a thickness of the colonic wall was detected on abdominal ultrasonography. Laboratory data showed inflammation and 2% atypical lymphocytes with the normal number of white blood cells. Although there was no bloody stool, fecal occult blood was over 1000 ng/ml. Colonoscopy showed diffuse inflammation in the entire large bowel and pseudomembranes in the sigmoid colon. The diagnosis was UC with antibiotic-associated pseudomembranous colitis. Metronidazole followed by sulfasalazine resulted in defervescence and improvement in laboratory data of inflammation. It took one month for normalization of fecal occult blood. Endoscopic remission was simultaneously confirmed. Later, it was found that a report of positive CMV antigenaemia (2/150,000) had been missed. Reevaluation of biopsy specimens using a monoclonal antibody against CMV identified positive cells, although inclusion bodies were not found in hematoxylin and eosin sections. Finally, the case was concluded to be synchronous onset of CMV colitis and UC.
Conclusion
Synchronous CMV colitis is not routinely investigated in newly diagnosed UC patients. Together with a recent observation in animal studies, it is plausible that a subset (a few to several per cent) of UC patients develop synchronous CMV infection. Further studies are needed to elucidate the plausibility.
doi:10.1186/1756-0500-6-40
PMCID: PMC3598764
PMID: 23375026
Cytomegalovirus; Ulcerative colitis; Cytomegalovirus colitis
Background
Smoking is a cause of cancer and polycythemia. Therefore, surgeons who treat patients with cancer may also encounter patients with polycythemia. However, few cases of surgical patients with polycythemia have been reported; in particular, a surgical case involving smokers’ polycythemia has never been reported. We herein report a patient with lung cancer and smokers’ polycythemia who successfully underwent lobectomy with control of hematocrit based on a modified formula in the perioperative period.
Case presentation
A 67-year-old man underwent abdominoperineal resection for rectal carcinoma in June 2008. A ground glass opacity had been identified in the upper lobe of the right lung and was gradually enlarging. In March 2012, bronchoscopic cytology for investigation of the mass revealed non-small cell lung cancer, suggesting primary lung non-small cell carcinoma (T1bN0M0, Stage IA). When he was referred to our hospital for surgery, his complete blood count showed a red blood cell level of 6.50×106/μL, hemoglobin of 21.0 g/dL, and hematocrit of 60.1%. The hematologists’ diagnosis was secondary polycythemia due to heavy smoking (smokers’ polycythemia) because the white blood cell and platelet counts were within normal limits and the erythropoietin was not increased. We calculated the appropriate phlebotomy and infusion volumes based on a formula that we modified. After 550 g of blood was phlebotomized to reduce the hematocrit to approximately 55%, video-assisted right lung upper lobectomy with lymph node dissection was performed in April 2012. The hematocrit was maintained at <50% postoperatively, and the patient was uneventfully discharged on postoperative day 7. The predictive hematocrit and measured hematocrit were very closely approximated in this case.
Conclusion
We experienced a patient with smokers’ polycythemia who underwent right upper lobectomy for adenocarcinoma. The findings in this case report are meaningful for surgeons treating cancer patients because there are few reports discussing the perioperative care of surgical patients with polycythemia.
doi:10.1186/1756-0500-6-38
PMCID: PMC3571947
PMID: 23374961
Smokers’ polycythemia; Phlebotomy; Predictive hematocrit; Lung cancer; Lung lobectomy
Background
Obsessive compulsive disorders are a complex group that can have a variety of manifestations. Many authors now describe an obsessive compulsive spectrum disorder where many other specific diagnostic entities such as trichotillomania, tic disorders and body dysmorphic disorder are considered to be related and linked disorders.
Case presentation
We report a case of a twenty two year old Sri Lankan male who presented with life threatening self starvation due to severe obsessive compulsive disorder. The diagnosis was not considered till late due to the atypical presentation of the patient. While his symptoms bordered on a delusional psychosis, a decision was made to treat him as for obsessive compulsive disorder with behavioural therapy which was successful in the end.
Conclusions
In analysis of a patient with severe anorexia, the psychological causes should not be forgotten. In fact, if the feeding pattern of the patient was observed at the beginning, unnecessary investigating and life threatening worsening of the condition could have been avoided.
doi:10.1186/1756-0500-6-36
PMCID: PMC3598395
PMID: 23369616
Background
Melanoacanthoma (MA) has been described in the oral mucosa as a solitary lesion or, occasionally, as multiple lesions. MA mainly affects dark skinned patients and grows rapidly, showing a plane or slightly raised appearance and a brown to black color. The differential diagnosis includes oral nevi, amalgam tattoos, and melanomas. We report here the case of a 58-year-old black woman who presented multiple pigmented lesions on the hard palate.
Case presentation
Based on the differential diagnosis of melanoma, a punch biopsy (4 mm in diameter) was performed. The material was fixed in 10% formalin, embedded in paraffin, and stained with hematoxylin-eosin or submitted to immunohistochemical analysis. Immunohistochemistry using antibodies against protein S-100, melan-A, HMB-45, MCM-2, MCM-5, Ki-67 and geminin was performed. Immunohistochemical analysis revealed strong cytoplasmic immunoreactivity of dendritic melanocytes for proteinS-100, HMB-45 and melan-A.Positive staining for proliferative markers (MCM-2, MCM-5, Ki-67) was only observed in basal and suprabasal epithelial cells, confirming the reactive etiology of the lesion. The diagnosis was oral Melanoacanthoma (MA).
Conclusion
The patient has been followed up for 30 months and shows no clinical alterations. MA should be included in the differential diagnosis of pigmented lesions of the oral cavity.
doi:10.1186/1756-0500-6-30
PMCID: PMC3568418
PMID: 23356913
Melanoacanthoma; Mouth; Pigmented lesions
Background
Onset of Henoch-Schönlein purpura (HSP) in middle age is uncommon, and adults with renal or gastrointestinal involvement present with more severe disease than do similar pediatric patients.
Case presentation
We present the case of a 69-year-old male with HSP who, after treatment with steroids, cyclophosphamide, and continuous intravenous prostaglandin E1 (PGE1), died as a result of severe gastrointestinal involvement with non-occlusive mesenteric ischemia (NOMI). Vascular narrowing associated with the NOMI improved after catheter injection of PGE1 and prednisolone, but the patient died of bleeding from an exposed small vessel. At autopsy there was no active vasculitis in the jejunal submucosa.
Conclusion
Treatment with PGE1 and prednisolone might improve small-vessel vasculitis associated with NOMI.
doi:10.1186/1756-0500-6-26
PMCID: PMC3558347
PMID: 23343144
Henoch-Schönlein purpura; Intervention; Non-occlusive mesenteric ischemia; Small vessel vasculitis
Background
Parvovirus B19 presents tropism for human erythroid progenitor cells, causing chronic anemia in organ transplant recipients, due to their suppressed humoral and cellular responses. Diagnosis may be achieved through serological tests for detection of anti-B19 antibodies. However, renal transplant recipients are not routinely tested for parvovirus B19 infection, since there is scanty data or consensus on screening for B19 infection, as well as for treatment or preventive management of transplanted patients.
Case presentation
Herein we report a kidney transplant recipient, who was unresponsive to treatment of severe anemia, and presented hypocellular hematopoietic marrow, megaloblastosis and hypoplasia of erythroid lineage with larger cells with clear nuclei chromatin and eosinophilic nuclear inclusions. This patient was seropositive for Epstein-Barr and Cytomegalovirus infections and negative for anti-parvovirus B19 IgM and IgG antibodies, although symptoms were suggestive of parvoviruses infection. A qualitative polymerase chain reaction testing for B19 in serum sample revealed positive results for B19 virus DNA.
Conclusion
This case report suggests that the diagnostic process for parvovirus B19 in renal transplant recipients should include a polymerase chain reaction assay to detect B19-DNA, since specific serological tests may be unreliable given their impaired humoral responses. These results also indicate the importance of considering parvovirus B19 infection in the differential diagnosis of persistent anemia in transplanted patients.
doi:10.1186/1756-0500-6-28
PMCID: PMC3570302
PMID: 23343210
Parvovirus B19; Anemia; Renal transplant; Antibodies
Background
Abdominal wall hematomas are an uncommon cause of acute abdominal pain and are often misdiagnosed. They are more common in elderly individuals, particularly in those under anticoagulant therapy. Most abdominal wall hematomas occur in the rectus sheath, and hematomas within the oblique muscle are very rare and are poorly described in the literature. Here we report the case of an oblique muscle hematoma in a middle-aged patient who was not under anticoagulant therapy.
Case presentation
A 42-year-old Japanese man presented with a painful, enlarging, lateral abdominal wall mass, which appeared after playing baseball. Abdominal computed tomography and ultrasonography showed a large soft tissue mass located in the patient’s left internal oblique muscle. A diagnosis of a lateral oblique muscle hematoma was made and the patient was treated conservatively.
Conclusion
Physicians should consider an oblique muscle hematoma during the initial differential diagnosis of pain in the lateral abdominal wall even in the absence of anticoagulant therapy or trauma.
doi:10.1186/1756-0500-6-18
PMCID: PMC3552714
PMID: 23327472
Abdominal pain; Abdominal muscle; Oblique muscle; Hematoma
Background
Demyelinating diseases cause destruction of the myelin sheath, while axons are relatively spared. Pathologically, demyelination can be the result of an inflammatory process, viral infection, acquired metabolic derangement and ischemic insult. Three diseases that can cause inflammatory demyelination of the CNS are: Multiple sclerosis (MS), Acute disseminated encephalomyelitis (ADEM) and Acute hemorrhagic leucoencephalitis. Differentiation is not always easy and there is considerable overlaping. Data about adults with acute demyelination requiring ICU admission is limited.
Case presentation
A 17 year old Greek female was hospitalised in the ICU because of acute respiratory failure requiring mechanical ventilation. She had a history of febrile disease one month before, acute onset of paraplegia, diplopia, progressive arm weakness and dyspnea. Her consciousness was not impaired. A demyelinating central nervous system (CNS) disease, possibly post infectious encephalomyelitis (ADEM) was the underlying condition. The MRI of the brain disclosed diffused expanded cerebral lesions involving the optic nerve, basal ganglia cerebellum, pons and medulla oblongata. There was also extended involvement of the cervical and thoracic part of the spinal cord. CSF leukocyte count was elevated with lymphocyte predominance. The patient required mechanical ventilation for two months. Then she was transferred to a rehabilitation centre. Three years later she remains paraplegic. Since then she has not suffered any other demyelination attack.
Conclusions
Demyelinating diseases can cause acute respiratory failure when the spinal cord is affected. Severe forms of these diseases, making necessary ICU admission, is less frequently reported. Intensivists should be aware of the features of these rare diseases.
doi:10.1186/1756-0500-6-22
PMCID: PMC3579686
PMID: 23331922
Background
Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm of chromosome 6p21. The incidence of CCD is one per million births. CCD appears spontaneously with no apparent genetic cause in approximately 40% of affected patients, and one in three patients has unaffected parents. The most prevalent features associated with CCD are aplastic or hypoplastic clavicles, supernumerary teeth, failed eruption of permanent teeth, and a hypoplastic maxilla.
Case presentation
A 13-year-old Caucasian boy presented with a chief complaint of delayed eruption of the permanent anterior teeth. The patient was subsequently diagnosed with CCD based on the clinical examination, panoramic X-ray, anterior-posterior and lateral cephalogram, and chest radiograph findings. The details of this case are herein reported because of the extremely low incidence of this disorder.
Conclusions
CCD is of clinical importance in dentistry and medicine because it affects the bones and teeth and is characterized by many changes in skeletal patterning and growth. Particularly in dentistry, CCD is of great clinical significance because is associated with delayed ossification of the skull sutures, delayed exfoliation of the primary teeth, lack of permanent teeth eruption, multiple supernumerary teeth, and morphological abnormalities of the maxilla and mandible. Patients with CCD seek treatment mainly for dental problems. Knowledge of the pathogenesis, clinical characteristics, and diagnostic tools of CCD will enable clinicians to render the appropriate treatment to improve function and aesthetics. Early diagnosis of CCD is crucial for timely initiation of an appropriate treatment approach.
doi:10.1186/1756-0500-6-6
PMCID: PMC3551643
PMID: 23289840
Cleidocranial dysplasia; Delayed eruption; Supernumerary teeth
Background
Late acute left atrial thrombosis is a rare life-threatening complication that mostly appears with predisposing primary coagulopathy, such as Protein C, Protein S, antithrombin 3 deficiency, antiphospholipid syndrome or hyperhomocysteinemia. We present grave outcome due to lack of anticoagulation in a patient with artificial mitral valve.
Case presentation
A 47-year-old male known to have an artificial valve was hospitalized in another hospital due to an acute illness. Anti-coagulation therapy was not provided during that hospitalization. He was transferred to our hospital due to lower limb weakness and diagnosed by us as having extensive emboli disease with complete occlusion of the distal aorta. Multiple infarcts were found in the abdominal organs and leg muscles. He suffered from multiple organ failure and eventually died.
Conclusion
Neglecting the common practice of anticoagulation to a patient with a mechanical heart valve may, in rare cases, lead to immediate catastrophic event caused by shower thrombemboli with disseminated vascular occlusion from the left atrium to the abdominal aorta causing complete occlusion, spleen, kidney and muscle infarcts.
doi:10.1186/1756-0500-6-4
PMCID: PMC3548697
PMID: 23286310
Background
Apical ballooning syndrome mimics acute coronary syndromes and it is characterized by reversible left ventricular apical ballooning in the absence of angiographically significant coronary artery stenosis.
Case presentation
This is a case of a 40-year-old Caucasian male without any health related problems that was submitted to an urgent coronary angiography because of acute chest pain and marked precordial T-wave inversions suggestive of acute myocardial ischemia. Coronary angiography showed no significant stenosis of the coronary arteries. Left ventriculography showed systolic apical ballooning with mild basal hypercontraction.
Conclusion
Physicians should be aware of the presentation of apical ballooning syndrome, and the chest pain after following acute stress should not be readily attributed to anxiety.
doi:10.1186/1756-0500-5-698
PMCID: PMC3537650
PMID: 23270409
Apical ballooning syndrome; Stress cardiomyopathy; Acute coronary syndrome
Background
Diabetic muscle infarction is a rare complication of diabetes mellitus (DM) and is often misdiagnosed as cellulitis. This complication is usually associated with poor disease prognosis and high mortality with previous studies reporting a risk of 50% recurrence or another macrovascular complication occurring within one year. Thus, there needs to be greater awareness of this complication of diabetes.
Case presentation
In the current work, we present a case report and literature review of DMI occurring in a calf of a 57 year old male. However, unlike the suspected trend, our patient has performed well after this incident and has not sustained another macrovascular event now > 15 month since his original diabetic muscle infarction.
Conclusion
Even though diabetic muscle infarction is an uncommon condition, it is important to consider this diagnosis in a diabetic patient. We hope that our findings and literature review will aid clinicians to better diagnose and manage this condition.
doi:10.1186/1756-0500-5-701
PMCID: PMC3577448
PMID: 23270501
Diabetic muscle infarction; Diabetic myonecrosis
Background
Animal bites are typically harmless, but in rare cases infections introduced by such bites can be fatal. Capnocytophaga canimorsus, found in the normal oral flora of dogs, has the potential to cause conditions ranging from minor cellulitis to fatal sepsis. The tendency of C. canimorsus infections to present with varied symptoms, the organism’s fastidious nature, and difficulty of culturing make this a challenging diagnosis. Rarely, bacterial cytotoxins such as those produced by C. canimorsus may act as causative agents of TTP, further complicating the diagnosis. Early recognition is crucial for survival, and the variability of presentation must be appreciated. We present the first known case of C. canimorsus infection resulting in TTP that initially presented as splenic infarction.
Case presentation
72-year-old Caucasian male presented with a four-day history of abdominal pain, nausea, vomiting, diarrhea, and intermittent confusion. On presentation, vital signs were stable and the patient was afebrile. Physical examination was unremarkable apart from petechiae on the inner left thigh, and extreme diffuse abdominal pain to palpation and percussion along with positive rebound tenderness. Initial investigations revealed leukocytosis with left shift and thrombocytopenia, but normal liver enzymes, cardiac enzymes, lipase, INR and PTT. Abdominal CT demonstrated a non-enhancing spleen and hemoperitoneum, suggesting complete splenic infarction. Although the patient remained afebrile, he continued deteriorating over the next two days with worsening thrombocytopenia. After becoming febrile, he developed microangiopathic hemolytic anemia and hemodynamic instability, and soon after was intubated due to hypoxic respiratory failure and decreased consciousness. Plasma exchange was initiated but subsequently stopped when positive blood cultures grew a gram-negative organism. The patient progressively improved following therapy with piperacillin-tazobactam, which was switched to imipenem, then meropenem when Capnocytophaga was identified.
Conclusions
There is a common misconception amongst practitioners that the presence of systemic infection excludes the possibility of TTP and vice versa. This case emphasizes that TTP may occur secondary to a systemic infection, thereby allowing the two processes to coexist. It is important to maintain a wide differential when considering the diagnosis of either TTP or C. canimorsus infection since delays in treatment may have fatal consequences.
doi:10.1186/1756-0500-5-695
PMCID: PMC3583747
PMID: 23267527
Capnocytophaga canimorsus; Thrombotic thrombocytopenic purpura; Splenic infarction; Dog bite
Background
Cola is an extremely popular caffeinated soft drink. The media have recently cited a poll in which 16% of the respondents considered themselves to be addicted to cola soft drinks. We find the contrast between the apparent prevalence of cola addiction and the lack of scientific literature on the subject remarkable. To our knowledge, this is the first case of cola dependency described in the scientific literature.
Case presentation
The patient is a 40-year-old woman, who when feeling down used cola to give her an energy boost and feel better about herself. During the past seven years her symptoms increased, and she was prescribed antidepressant medication by her family doctor. Due to worsening of symptoms she was hospitalised and later referred to a specialised outpatient clinic for affective disorders. At entry to the clinic she suffered from constant tiredness, lack of energy, failing concentration, problems falling asleep as well as interrupted sleep. She drank about three litres of cola daily, and she had developed a metabolic syndrome.
The patient fulfilled the ICD-10 criteria for dependency, and on the Yale Food Addiction Scale (YFAS) she scored 40 points. Her clinical mental status was at baseline assessed by the Major Depression Inventory (MDI) = 41, Hamilton Depression - 17 item Scale (HAMD-17) = 14, Young Mania Rating Scale (YMRS) = 2 and the Global Assessment of Functioning (GAF) Scale = 45.
During cognitive therapy sessions she was guided to stop drinking cola and was able to moderate her use to an average daily consumption of 200 ml of cola. Her concentration improved and she felt mentally and physically better. At discharge one year after entry her YFAS was zero. She was mentally stable (MDI =1, HAMD-17 = 0, YMRS = 0 and GAF = 85) and without antidepressant medication. She had lost 7.2 kg, her waistline was reduced by 13 cm and the metabolic syndrome disappeared.
Conclusion
This case serves as an example of how the overconsumption of a caffeinated soft drink likely was causing or accentuating the patient’s symptoms of mental disorder. When diagnosing and treating depression, health professionals should pay attention to potential overuse of cola or other caffeinated beverages.
doi:10.1186/1756-0500-5-692
PMCID: PMC3598894
PMID: 23259911
Cola caffeinated soft drink; Depression; Addiction; Metabolic syndrome
Background
The localized scleroderma (LS) known as morphea, presents a variety of clinical manifestations that can include systemic involvement. Current classification schemes divide morphea into categories based solely on cutaneous morphology, without reference to systemic disease or autoimmune phenomena. This classification is likely incomplete. Autoimmune phenomena such as vitiligo and Hashimoto thyroiditis associated with LS have been reported in some cases suggesting an autoimmune basis. To our knowledge this is the first case of a morphea forming part of a multiple autoimmune syndrome (MAS) and presenting simultaneously with autoimmune thrombocytopenic purpura and central nervous system vasculitis.
Case presentation
We report an uncommon case of a white 53 year old female patient with LS as part of a multiple autoimmune syndrome associated with pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis presenting a favorable response with thrombopoietin receptor agonists, pulses of methylprednisolone and cyclophosphamide.
Conclusion
Is likely that LS have an autoimmune origin and in this case becomes part of MAS, which consist on the presence of three or more well-defined autoimmune diseases in a single patient.
doi:10.1186/1756-0500-5-689
PMCID: PMC3532086
PMID: 23256875
Localized scleroderma; Morphea; Multiple autoimmune syndrome; Central nervous system vasculitis
Background
Situs inversus totalis represents an unusual anomaly characterized by a mirror-image transposition of the abdominal and thoracic viscera. It often occurs concomitantly with other disorders that make difficult diagnosis and management of abdominal pathology. The relationship between situs inversus totalis and cancer remains unclear.
Case presentation
We describe a 33-year old Guinean man with situs inversus totalis who presented with obstructive jaundice. Imaging and endoscopic modalities demonstrated a mass of distal common bile duct which biopsy identified an adenocarcinoma. The patient was successfully treated by cephalic pancreaticoduodenectomy followed by adjuvant chemoradiation and he is doing well without recurrence 8 months after surgery.
Conclusion
The occurrence of bile duct adenocarcinoma in patient with situs inversus totalis accounts as a rare coincidence. In this setting, when the tumor is resectable, surgical management should be considered without contraindication and must be preceded by a careful preoperative staging.
doi:10.1186/1756-0500-5-681
PMCID: PMC3532423
PMID: 23234596
Situs inversus totalis; Bile duct cancer; Preoperative staging; Surgical management
Background
To describe a rare manifestation of mantle cell lymphoma (MCL) in conjunctiva, with clinical, hisologic, immunohistologic and genetic findings together with review of the Literature.
Case presentation
Most ocular adnexal lymphomas are extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue (MALT). A few cases of ocular adnexal mantle cell lymphomas have been reported in the literature. We present a case of mantle cell lymphoma presenting as right conjunctival mass of at least three months duration in a 64-year-old man. Histopathologic examination showed a proliferation of monomorphous small-to-medium-sized lymphoid cells with cleaved nuclei in the subconjunctiva. By immunohistochemistry, the infiltrate was positive for CD20, CD5, BCL-2, cyclin D1, and the transcription factor SOX11. Fluorescent in situ hybridization demonstrated the presence of IGH-CCND1 fusion indicating t(11;14).
Conclusion
A rigorous approach to initial diagnosis and staging of small cell lymphomas of the ocular adnexa is needed. The recognition of ocular MCL requires appropriate immunohistochemical staining and/or genetic confirmation to differentiate this rare form of presentation of MCL from other more frequent small cell lymphomas.
doi:10.1186/1756-0500-5-671
PMCID: PMC3549763
PMID: 23210924
Lymphoma; Orbit; Conjunctiva; Mantle cell lymphoma; t(11;14); SOX 11