Similar Radiological Findings Research Articles

Non-infectious Lung Disease in Patients with Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Adenosine deaminase deficiency is a disorder of purine metabolism manifesting severe combined immunodeficiency (ADA-SCID) and systemic abnormalities. Increased levels of the substrate deoxyadenosine triphosphate (dATP) lead to immunodeficiency and are associated in a murine model with pulmonary insufficiency. We compared a cohort of patients with ADA-SCID and X-linked SCID and found that despite similar radiological and respiratory findings, positive microbiology is significantly less frequent in ADA-SCID patients (p < 0.0005), suggesting a metabolic pathogenesis for the lung disease. Clinicians should be aware of this possibility and correct metabolic abnormalities either through enzyme replacement or haematopoietic stem cell transplant, in addition to treating infectious complications.

Is Type 2 Autoimmune Pancreatitis Rare in Asia? Prevalence, Clinical Outcomes, Radiological Features and Response to Steroids of Type 2 Autoimmune Pancreatitis in Korea

Backgrounds: Recently, two distinct histological patterns of autoimmune pancreatitis (AIP), type 1 AIP and type 2 AIP, have been recognized. Type 2 AIP has been reported mainly in western countries and is known to be rare in Asia. The aim of this study was to compare the prevalence, clinical profiles, radiological findings and response to steroids of type 1 and type 2 AIP in Korea. Methods: From 120 patients diagnosed with AIP between January 2003 and March 2010, 52 patients with histologically confirmed type 1 (n=37) or type 2 (n=15) AIP were included. We reviewed the prospectively collected data on these patients. Results: The type 2 AIP patients' median age (34 years) was significantly lower than that of the type 1 AIP patients (61 years) (p 1,800 mg/dL, 54.1% in type 1 AIP vs. 0% in type 2, p 135 mg/dL, 70.3% in type 1 AIP vs. 0% in type 2 AIP, p<0.05). Ulcerative colitis was associated with only type 2 AIP (33.3%), but type 2 AIP patients had no other extrapancreatic involvements. Steroid therapy was performed on 41 patients (27 in type 1 AIP and 14 in type 2 AIP), and all of whom improved clinically and radiologically in response to it. During the follow-up period (median 714 days in type 1 AIP vs. 489 days in type 2 AIP, p=0.166), 32.4% of type 1 AIP patients experienced a relapse, but none of the type 2 AIP patients did (p<0.05). Conclusion: It is suggested that type 2 AIP might not be rare in Korea unlike the results of previous studies. Type 1 and type 2 AIP patients had similar radiological findings and response to steroids, but they showed distinct initial clinical presentations, serology and relapse rate.

Simultaneous occurrence of malignant fibrous histiocytoma and hepatocellular carcinoma in cirrhotic liver: A case report

Primary hepatic malignant fibrous histiocytoma (MFH) is rarely encountered. There have been no reports to date of hepatic MFH associated with liver cirrhosis. The presence of liver cirrhosis is considered an adjunctive feature favoring sarcomatoid hepatocellular carcinoma (HCC) in the diagnosis of spindle cell tumors in liver. We describe here a 59-year-old man with liver cirrhosis due to hepatitis B virus infection 20 years ago. On abdominal computed tomography scanning, two distinct hepatic masses were identified in the background of cirrhosis, which had different radiological features from conventional HCC. He underwent segmentectomy for removal of the tumors. The pathological examination of surgically resected specimen revealed the large malignant spindle cell tumor and small conventional HCC. Additional tissue sampling and immunohistochemical stainings demonstrated that the spindle cell tumor was consistent with MFH. On the post-operative follow-up for 21 mo, a round mass showing similar radiological findings for the previous MFH was appeared on the surface of resection margin, suggesting the recurrence. Despite its rarity, hepatic MFH should be considered during differential diagnosis, even in cirrhotic patients, and extensive tissue sampling and immunohistochemical analyses are necessary in the diagnosis of hepatic spindle cell tumors.

High-riding jugular bulb presenting as conductive hearing loss

The superior border of the jugular bulb normally lies below the hypotympanum. However, in rare cases, the jugular bulb may extend upwards elevating the floor of the hypotympanum and presenting in the middle-ear space. We present a case of a child with a bone-covered jugular bulb that mimicked the appearance of a mass impinging on the round window niche causing conductive hearing loss. In addition to a cholesteatoma or neoplasm, a bone-covered jugular bulb should also be considered when formulating a differential diagnosis in patients with similar clinical and radiologic findings.

Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

Primary microcephaly of postnatal onset is a feature of many neurological disorders, mostly associated with mental retardation, seizures, and spasticity, and it typically carries a grave prognosis. Five infants from four unrelated families of Caucasus Jewish origin presented soon after birth with spasticity, epilepsy, and profound psychomotor retardation. Head circumference percentiles declined, and brain MRI disclosed marked cereberal and cerebellar atrophy with severe myelination defect. A search for a common homozygous region revealed a 2.28 Mb genomic segment on chromosome 11 that encompassed 16 protein-coding genes. A missense mutation in one of them, MED17, segregated with the disease state in the families and was carried by four of 79 anonymous Caucasus Jews. A corresponding mutation in the homologous S.cerevisiae gene SRB4 inactivated the protein, according to complementation assays. Screening of MED17 in additional patients with similar clinical and radiologic findings revealed four more patients, all homozygous for the p.L371P mutation and all originating from Caucasus Jewish families. We conclude that the p. L371P mutation in MED17 is a founder mutation in the Caucasus Jewish community and that homozygosity for this mutation is associated with infantile cerebral and cerebellar atrophy with poor myelination.

Magnetic resonance imaging with pathological correlation in a case of mantle cell lymphoma of the parotid gland: a case report

IntroductionMantle cell lymphoma is a rare non-Hodgkin's lymphoma. It is a subtype of B-cell lymphoma with frequent involvement of the bone marrow and the gastrointestinal tract. Isolated parotid gland involvement seldom occurs. Here we report an unusual case of isolated infiltration of the parotid gland by mantle cell lymphoma. The aim of our study is to correlate magnetic resonance imaging findings with the histological features of the disease. To the best of our knowledge, no similar radiological findings of mantle cell lymphoma have been published before.Case presentationA 72-year-old Caucasian woman presented with a painful left parotid enlargement. She was diagnosed with mantle cell lymphoma involving the left submandibular gland seven years prior to presentation. Her whole body CT scan showed the absence of pathologically enlarged lymph nodes. However, a magnetic resonance imaging showed enlargement of her left parotid gland and an abnormal parenchyma with mixed-type solid and cystic lesions. A biopsy of her left parotid gland and subsequent histological examination confirmed a mantle cell lymphoma (common variant) relapse.ConclusionAlthough rare, the involvement of parotid gland with mantle cell lymphoma must be considered in the differential diagnosis of parotid tumors.

Peritoneal tuberculosis in premenopausal patients with elevated serum CA 125

Peritoneal tuberculosis predominantly involves the omentum, intestinal tract, liver, spleen, and genitourinary tract and occurs in 1-4% of patients with pulmonary tuberculosis. Peritoneal tuberculosis may mimic a pelvic mass in imaging studies and also may increase CA-125 levels. Peritoneal tuberculosis may also produce massive ascites, and intraperitoneal gross appearance might be similar to the peritoneal carcinomatosis. Therefore, peritoneal tuberculosis is often confused with advanced-stage epithelial carcinoma because of similar clinical, radiologic, and laboratory findings and later intraoperative findings. The pathology records between January 2000 and August 2008 were retrospectively reviewed at 19 Mayis University Hospital. Twenty-two patients were found to have peritoneal caseating necrosis. A total of 13 out of 22 patients were found to have high CA 125 level. Among these 13 patients, 8 patients received/are receiving anti-tuberculous therapy after they were incidentally diagnosed with peritoneal tuberculosis. Increased CA 125 levels should be evaluated carefully prior to aggressive surgical approach, especially in premenopausal women and frozen section evaluation should be done before extensive surgical procedure if there is any suspicion.

Two maxillary lesions containing bony/calcified shells

Because of the close anatomical relationship between the maxillary sinus and the adjacent dental region, determining the primary site of cysts in these regions can be a diagnostic dilemma. In this article, two cases with similar radiological findings are presented. These cases had lesions involving the maxillary sinus and the adjacent alveolar process; the lesions were surrounded with egg-shaped, linear opacities. Diagnoses of a residual radicular cyst in one case and a calcified mucocoele (which is very rare) in the other case were predicted with the help of radiological findings and were confirmed surgically and histopathologically.

Post-mortems in recreational scuba diver deaths: The utility of radiology

Post-mortem radiology and autopsy findings in a series of six diving-related deaths are presented. The cases had different causes of death but essentially similar radiological findings. We propose that the so-called classical radiological features of cerebral arterial gas embolism more likely represent “off-gassing” (gas coming out of solution into intra-vascular spaces due to pressure changes). As such, we suggest that post-mortem radiology, when accompanying a competent autopsy examination, be limited to the chest, whereby it may be useful in the demonstration of pneumothoraces which might not be demonstrated at autopsy, thereby providing supporting evidence for barotrauma in the context of appropriate clinical and autopsy findings.

Solitary necrotic nodule of the liver mimicking hepatocellular carcinoma: a case report

IntroductionSolitary necrotic nodule of the liver is a rare lesion, with similar radiologic findings to those of hepatic metastases or other liver masses.Case presentationWe here report a case of a 30-year-old male with hepatic solitary necrotic nodule discovered after an episode of acute abdominal pain and high grade fever. Routine laboratory data revealed leukocytosis and abnormal liver function. The imaging features of the lesion suggested malignancy or liver adenoma. The patient underwent surgical resection of segments V and VI. Histology was compatible with solitary necrotic nodule and localized vein thrombosis at the periphery.ConclusionSolitary necrotic nodule of the liver is a benign lesion which can mimic liver malignancies. Abdominal imaging and liver biopsy are often equivocal. In such circumstances liver resection is mandatory to exclude HCC or other malignant liver lesions.

Intestinal Endometriosis Mimicking Carcinoma of Rectum and Sigmoid Colon: A Report of Five Cases

Among women with intestinal endometriosis, the sigmoid colon and rectum are the most commonly involved areas. Sometimes, the differential diagnosis of colorectal endometriosis from carcinoma of the colon and rectum is difficult due to similar colonoscopic and radiologic findings. From October 2002 to September 2007, we performed five operations with curative intent for rectal and sigmoid colon cancer that revealed intestinal endometriosis. Colonoscopic and radiologic findings were suggestive of carcinoma of rectum and sigmoid colon, such as rectal cancer, sigmoid colon cancer and gastrointestinal stromal tumor (GIST). Anterior resection was performed in two patients, low anterior resection was performed in one patient and laparoscopic low anterior resection was done in two patients. We suggest to consider also intestinal endometriosis in reproductive women presenting with gastrointestinal symptoms and an intestinal mass of unknown origin.

Cut-off value of D-dimer in pulmonary thromboembolism and pneumonia

Aim: The differential diagnosis of pulmonary thromboembolism (PTE) and pneumonia remains difficult in emergency rooms. High D-dimer levels in the pneumonia may be misdiagnosed as PTE on the basis of similar clinical, radiological, and laboratory findings. Since D-dimer elevation may also be seen in pneumonia cases, the comparison of D-dimer values in patients diagnosed as pneumonia and PTE, in order to determine a cut-off value between the 2 diseases, was aimed in this study. Materials and methods: Patients in the community acquired pneumonia (CAP) group were classified according to the American Thoracic Society (ATS) 2001 criteria. Groups III and IV patients, who were hospitalized, were included in the study. The final CAP group consisted of 52 patients (30 in Group IIIa, 15 in Group IIIb, 2 in Group IVa, and 5 in Group IVb) and 68 patients with a diagnosis of PTE. All patients’ D-dimer levels in the first day were recorded. Results: Mean D-dimer levels of the PTE and pneumonia group were 4868 ng/mL and 2068 ng/mL, respectively (P < 0.001). Cut-off value was 4374 ng/mL. Mean levels of D-dimer in the massive PTE group and sub-massive PTE group were 5438 ng/mL and 4175 ng/mL,respectively, (P = 0.04). Conclusion: Elevation of D-dimer is more significant in PTE than pneumonia. As a result, if D-dimer level is higher than 4374 ng/mL, the patient should be evaluated for the diagnosis of PTE. A cut-off value of 4374 ng/mL will help the discrimination of PTE and pneumonia.

Thoracic vertebral osteomyelitis secondary to chronic esophageal perforation

Background Context Osteomyelitis secondary to perforation of the esophagus is a rare condition. Thoracic osteomyelitis after chronic esophageal perforation has never been described in the literature. Purpose We report a case of vertebral osteomyelitis resulting from a chronic esophageal perforation. Study Design/Setting Case report/University hospital. Methods A 52-year-old woman presented with dysphagia, severe mid back, and epigastric pain over a 6-week period. Endoscopic and radiological investigations revealed the presence of a paraspinal inflammatory mass protruding into the posterior esophageal wall. Two weeks after admission, the patient developed septic complications which required surgical intervention. This revealed the presence of an esophageal perforation and osteomyelitis of the T4–T5 and T7–T8 vertebrae. After T-tube closure of the esophageal perforation along with surgical debridement of the vertebrae and a 6-week course of antibiotics, the patient made a sound recovery. However, there was persistence of back pain with exaggerated thoracic spine kyphosis at T7–T8 which needed thoracic spine stabilization with pedicle screw instrumentation and fusion. Results This treatment led to complete recovery with no recurrence of symptoms at 8-months' follow-up. Conclusions To date this is the first case of thoracic osteomyelitis secondary to a chronic esophageal perforation to be reported in the literature. A high index of suspicion of this diagnosis is warranted in patients who present with similar clinical and radiological findings to enable prompt diagnosis and avoid the high mortality of esophageal perforation.

Congenital pseudarthrosis of the clavicle in two siblings

Congenital pseudarthrosis of the clavicle is a rare disorder of unknown etiology. Among nearly 200 cases hitherto reported, only a few cases have familial coexistence, and none are first-degree relatives. A nine-year old girl had complaints of weakness in the right arm and swelling in the right shoulder. On physical examination, a mass-like lesion in the right clavicle, abnormal clavicular movement, and asymmetric shoulders were noted. The range of motion of the shoulder was in normal range on both sides. A plain radiogram showed a defect in the diaphysis of the right clavicle and computed tomography showed discontinuity of the right clavicle. Similar clinical and radiologic findings were also detected in her younger sister who was three years old. None had a history of trauma, difficult delivery, or natal complication, any abnormal findings related to the musculoskeletal system, any abnormality in routine laboratory test results and genetic analysis. The diagnosis was made as congenital pseudarthrosis of the clavicle in both siblings. Since they had normal range of joint movements without pain, they were scheduled for clinical follow-up. To our knowledge, these two siblings are the first to be reported in the literature for having congenital pseudarthrosis of the clavicle.

Acute Interstitial Pneumonia in Siblings: A Case Report

Acute interstitial pneumonia (AIP) is a rapidly progressive condition of unknown cause that occurs in a previously healthy individual and produces the histologic findings of diffuse alveolar damage. Since the term AIP was first introduced in 1986, there have been very few case reports of AIP in children. Here we present a case of AIP in a 3-yr-old girl whose other two siblings showed similar radiologic findings. The patient was confirmed to have AIP from autopsy showing histological findings of diffuse alveolar damage and proliferation of fibroblasts. Her 3-yr-old brother was also clinically and radiologically highly suspected as having AIP, and the other asymptomatic 8-yr-old sister was radiologically suspected as having AIP.

Chordoma and chondrosarcoma: Similar, but quite different, skull base tumors

Chordoma and chondrosarcoma of the skull base are frequently amalgamated because of similar anatomic location, clinical presentation, and radiologic findings. The chondroid chordoma variant has been reported to carry a better prognosis. The objective of the current study was to investigate the distinctions between these 3 entities. The data concerning 109 patients with chordoma, chondroid chordoma, and chondrosarcoma who were treated by a single surgeon with maximum surgical resection and frequently by adjunct proton beam radiotherapy between 1990 and 2006 were analyzed retrospectively. Pathologic distinction was established by cytokeratin and epithelial membrane antigen staining. Clinical, radiologic, pathologic, and cytogenetic studies were analyzed in relation to disease recurrence and death. The average follow-up was 48+/-37.5 months (range, 1-191 months). There were no reliable distinguishing clinical or radiologic features noted between the groups. Chondrosarcoma patients had a significantly better outcome compared with chordoma patients with regard to survival and recurrence-free survival (P=.028 and P<.001, respectively), whereas patients with chondroid chordoma had a poor outcome similar to chordoma patients with regard to survival and recurrence-free survival (P=.337 and P=.906, respectively). Chordoma and chondrosarcoma differ with regard to their origin and histology, and differ markedly with regard to outcome. Chondroid chordomas behave in a manner that is clinically similar to chordomas, with the same prognosis. Both chordoma types demonstrate an aggressive clinical course and poor outcome after disease recurrence. The optimal treatment for all groups of patients involves radical surgical resection followed by high-dose radiotherapy in patients with chordomas. Radiotherapy may not be necessary in patients with low-grade chondrosarcoma.

Littoral cell angioma of spleen: a clinicopathologic study of 17 cases

To study the clinicopathologic features and immunophenotype of splenic littoral cell angioma. The clinical features, radiologic findings and histopathology of 17 cases of splenic littoral cell angioma were retrospectively reviewed. Immunohistochemical study was carried out on paraffin-embedded tissues, using normal spleen, cases of congestive splenomegaly and cavernous hemangioma as controls. All the 17 cases had similar clinical manifestations and radiologic findings. There was mild to moderate splenomegaly, with solitary or multifocal space-occupying lesions. Hepatic cysts were observed in 5 of the 17 cases. One case was also accompanied by serous cystadenoma of ovary. Gross examination revealed enlarged spleen containing single or multiple tan-colored nodules which ranged from 0.2 cm to 6.0 cm in diameter. Histologically, the lesions consisted of anastomosing vascular channels, sometimes with papillary or cavernous appearance. Two types of component cells were identified. A population of smaller cells lined the vascular channels, while another population of larger cells often floated in the vascular lumen. Both cell populations showed little cytologic atypia. Immunohistochemical study demonstrated that the smaller cells of all cases were positive for CD31 and polyclonal factor VIII-related antigen. They were negative for CD34, histiocytic markers and S-100 protein. CD8 and CD21 were expressed in 1 and 1 of the 17 cases respectively. On the other hand, the larger cells expressed histiocytic markers, including CD68 (KP1 and PG-M1), CD163 and lysozyme. There was also focal positivity for CD31. The staining for CD34, monocolonal factor VIII-related antigen and S-100 protein was negative. The immunophenotype of splenic littoral cell angioma was different from that of the controls. Littoral cell angioma is a benign condition, likely secondary to hemodynamic disturbance in spleen. The littoral cells become hyperplastic and anastomose, resulting in a hemangioma-like growth associated with histiocytic reaction. Attention to the characteristic histopathologic findings and immunophenotype are crucial for diagnosis.

Primary Pulmonary Artery Sarcoma: Difficult Differential Diagnosis from Chronic Pulmonary Thromboembolism

Pulmonary artery sarcoma is a rare malignant tumor. The disease is frequently misdiagnosed as chronic pulmonary thromboembolism because of the similar clinical and radiologic findings. We present a case of primary pulmonary artery sarcoma that was misdiagnosed as chronic pulmonary thromboembolism, and discuss the clinical presentation, diagnosis, and outcome.

Hereditary Vitamin D-resistant Rickets in Greek Children: Genotype, Phenotype, and Long-term Response to Treatment

We describe four patients (two pairs of children from two unrelated kindreds) from a Greek island, suffering from hereditary vitamin D-resistant rickets (HVDRR) with alopecia. There were two different homozygous mutations in the vitamin D receptor (VDR) gene of the affected members of the two kindreds that resulted in a truncated or missing receptor. The disorder began in early infancy with similar clinical, biochemical and radiological findings in all four patients, namely, alopecia (which provided the initial diagnostic evidence for HVDRR), rachitic deformities, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated serum levels of 1,25-dihydroxyvitamin D; however, the patients of kindred B had a more severe clinical expression. Treatment options include oral or intravenous calcium and active vitamin D metabolites. The response varies widely in different cases. Our patients were initially treated with high doses of 1alpha(OH)D3 and oral calcium supplementation. Kindred A patients had a satisfactory response to this regimen, while kindred B patients presented clinical and biochemical improvement when 1alpha(OH)D3 was changed to 1,25(OH)2D3. In the older patients of each kindred, treatment requirements gradually decreased during puberty, and therapy was finally discontinued before adulthood.

Novel Model of Antigen-Specific Induction of Bile Duct Injury

Biliary-directed inflammation is an important cause of acute and chronic liver disease. We developed and characterized a transgenic mouse model of immune-mediated hepatobiliary injury. Ovalbumin (OVA)-BIL mice were developed using 3.0 kilobase of the rat apical sodium-dependent bile acid transporter promoter to drive aberrant expression of a membrane form of ovalbumin (OVA) on biliary epithelium. Liver inflammation resulted from adoptive transfer of OVA-specific T cells. Liver immune cells were characterized to determine the mechanism of the response by assessing activation, proliferation, and intracellular cytokine expression. OVA-BIL transgenic mice were tolerant to OVA, without evidence of liver disease. Adoptive transfer of OVA-specific CD4+ and CD8+ T cells into naïve OVA-BIL mice led to biliary-centered necroinflammatory damage in a dose-dependent manner. This inflammation absolutely required CD8+ T cells and was augmented by CD4+ T cells. Adoptively transferred OVA CD8+ cells homed to and proliferated in the liver but not the spleen. These activated, adoptively transferred cytotoxic T lymphocytes produced elevated levels of tumor necrosis factor alpha and interferon gamma. T-cell recognition of antigen aberrantly expressed on bile duct epithelium induced an acute necroinflammatory response specific to the liver, with activation, proliferation, and cytokine production predominantly by the OVA-specific cytotoxic T cells. Thus, OVA BIL represents an antigen-specific animal model of inflammatory bile duct injury.