Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings.

PURPOSETo describe the CT and MR findings in the brain and spinal cord of patients with cerebrotendinous xanthomatosis and to seek possible correlations between clinical, biochemical (cholestanol levels), and neuroimaging findings.METHODSTen patients with well-defined clinical and biochemical diagnoses of cerebrotendinous xanthomatosis were examined. Brain CT was performed in eight cases. In all patients MR was obtained using spin-echo and gradient-echo sequences. In eight patients spine MR was also performed.RESULTSNeuroradiologic findings included diffuse cerebral and cerebellar atrophy. In half the cases, atrophy of the brain stem and corpus callosum was also found. In the majority of patients cerebellar bilateral focal lesions and mild white matter signal alterations were present. Spinal cord MR did not show signal abnormalities or atrophy.CONCLUSIONSWe found cranial alterations in patients with severe neurologic impairment, but there was no correlation with cholestanol plasma levels. No spinal cord abnormalities were present.     

Reliability of computed tomography: correlation with neuropathologic findings.

Findings on cranial computed tomography (CT) were correlated with autopsy findings in 58 cases with 129 lesions to determine CT reliability. When only CT scans of good quality were considered, there were no false positive cases. The number of false negative studies varied directly with lesion size: one of 42 lesions larger than 2.5 cm; four of 12 lesions between 1.5 and 2.5 cm; 12 of 15 between 0.5 and 1.5 cm; and all 21 of those smaller than 0.5 cm. Lesion size was undetermined in the remaining 18 casesbecause of the nature of the disease. While the series is small, these results suggest that the current detector threshold for CT may be in the range of 0.5-1.5 cm, although smaller lesions may be seen if there is substantial surrounding edema.     

Primary colorectal lymphoma: spectrum of imaging findings with pathologic correlation

Primary colorectal lymphoma is a very uncommon disease; therefore, it has received little attention in the radiology literature. Moreover, imaging features of newly described pathologic subtypes have not been reported such as low-grade B-cell lymphoma arising from mucosa-associated lymphoid tissue and peripheral T-cell lymphoma that involves colorectal area. We retrospectively reviewed double-contrast barium enema and CT scans in the patients with primary colorectal lymphoma. In this article the radiologic appearances of primary colorectal lymphoma are categorized into focal lesion and diffuse lesion. Focal lesion includes polypoid mass, circumferential infiltration with smooth mucosal surface, circumferential infiltration with extensive ulceration, cavitary mass, mucosal nodularity, and mucosal fold thickening. Diffuse lesion includes diffuse ulcerative lesion and diffuse nodular lesion. Peripheral T-cell lymphomas that involve the colon manifested as either a diffuse or focal segmental lesion and showed extensive mucosal ulceration. These findings are similar to those of Crohn's disease or tuberculous colitis and are different from those of previously reported colorectal lymphoma. Low-grade B-cell lymphoma arising from mucosa-associated lymphoid tissue manifest as multiple mucosal nodularity. The imaging features of primary colorectal lymphoma are quite variable and overlap with other colonic pathology; however, it is important for radiologists to know the imaging features of primary colorectal lymphoma with their pathologic correlation.     

Pseudomembranous colitis: spectrum of imaging findings with clinical and pathologic correlation.

Pseudomembranous colitis (PMC) is a potentially life-threatening acute infectious colitis caused by one or more toxins produced by an unopposed proliferation of Clostridium difficile bacteria. PMC is characterized by the presence of elevated, yellow-white plaques forming pseudomembranes on the colonic mucosa. These plaques can be visualized at both pathologic analysis and endoscopy. Plain radiography, contrast enema studies, and computed tomography (CT) are useful in the evaluation of PMC. Plain radiography of the abdomen can demonstrate polypoid mucosal thickening, "thumbprinting" (wide transverse bands associated with haustral fold thickening), or gaseous distention of the colon. A toxic megacolon with distention and occasionally pneumoperitoneum may be seen in the most severe cases of PMC involving perforation. At contrast enema studies, the primary finding in mild cases of PMC is small nodular filling defects representing the mucosal plaques. With more extensive colonic involvement, the plaques are larger and coalesce to form an irregular bowel wall margin. Mural thickening and wide haustral folds caused by intramural edema may also be seen. A contrast enema study is contraindicated in patients with severe PMC due to the danger of perforation. Common CT findings include wall thickening, low-attenuation mural thickening corresponding to mucosal and submucosal edema, the "accordion sign," the "target sign" ("double halo sign"), pericolonic stranding, and ascites. Familiarity with these imaging characteristics may allow early diagnosis and treatment and prevent progression to more serious pathologic conditions.     

Familial arteriopathic leukoencephalopathy: imaging and neuropathologic findings.

We present the clinical, imaging, and neuropathologic data for a family with an autosomal dominant, nonhypertensive, progressive cerebral arteriopathy and leukoencephalopathy. Clinical presentation was characterized by progressive dementia, gait abnormalities, and, in some, Parkinson-like symptoms. MR abnormalities, consisting of white matter T2 hyperintensities and cystic-appearing T1 hypointensities, were present in seven family members. The basal ganglia also showed cystic abnormalities. Neuropathologic examination in two cases revealed numerous lacunar infarctlike lesions, extensive demyelination, and widespread hyalinization of arteriolar walls with karyolysis and granular deposits within the media. These findings appear to constitute further evidence of a genetically determined arteriopathic leukoencephalopathy.     

Cerebrotendinous xanthomatosis presenting with bilateral Achilles tendon xanthomata

We report on a case of a 36-year-old lady who presented with large, painful soft-tissue swellings of both Achilles tendons. MRI demonstrated fusiform enlargement involving the Achilles tendons bilaterally. The tendons returned heterogeneous signal intensity characterised by a diffuse reticulated appearance. The right tendon mass was treated with a wide marginal excision and Achilles tendon reconstruction. The histology confirmed Achilles tendon xanthoma. Further metabolic investigation revealed the patient to have a rare autosomal recessive condition called cerebrotendinous xanthomatosis (CTX). Her brother was also affected. CTX is easily treatable if diagnosed early, and should be suspected in patients presenting with bilateral Achilles tendon xanthomas and normal plasma lipid levels.     

Solid pseudopapillary tumours of the pancreas: spectrum of imaging findings with histopathological correlation

Solid pseudopapillary tumour (SPT) is an uncommon cystic exocrine pancreatic neoplasm. The typical patient is a female in the third decade of life presenting with pain and/or palpable mass. Classic imaging characteristics include large size, mixed solid and cystic nature, encapsulation and haemorrhage. A pancreatic mass with these features in a young adult female should raise suspicion for an SPT. Although typically a non-aggressive neoplasm with surgery curative in most cases, SPT may exhibit more aggressive features such as local invasion, metastases or recurrence in up to 20% of cases.Solid papillary tumour (SPT) is an uncommon exocrine pancreatic neoplasm first described by Frantz [1]. It accounts for 6% of all exocrine pancreatic tumours in some series published since 2000 [2]. In our retrospective review, SPT represented 2.4% of all pancreatic specimens from 2000 to 10.The accepted nomenclature for this tumour has varied through the years, including solid and papillary epithelial neoplasm (SPEN), as well as solid and cystic papillary epithelial neoplasm, among others. After the World Health Organization (WHO) reclassification, SPT is now classified as an epithelial tumour under the “Borderline (Uncertain Malignant Potential)” subcategory. Pathologically, SPT is classified as a “rare cystic pancreatic neoplasm”.About 90% of cases involve females, with the mean age of patients being in their third decade of life. The most common presenting symptom is abdominal pain followed by upper abdominal mass. Mean tumour size is 6–8 cm, with the most common site being the pancreatic head (34–40%) or the pancreatic tail (24–36%). With the increased use of cross-sectional imaging, however, an increasing number of cases are being detected incidentally.     

Line-scan diffusion tensor imaging of the posttraumatic brain stem: changes with neuropathologic correlation

Following trauma, imaging of brain stem lesions is often inconclusive. In a man who suffered a lethal accident, postmortem MR diffusion tensor (DT) imaging of the brain and neuropathologic examination were performed. DT imaging showed a disorganization of fibers in the brain stem that was not found in 2 controls and corresponded to changes on neuropathologic correlation. Diffusion tensor imaging provides an insight into the organization of myelinated structures of the CNS, potentially allowing diagnosis of traumatic fiber tract rupture.     

Epidermal nevus syndrome: megalencephaly with bihemispheric and cerebellar involvement: imaging and neuropathologic correlation

Epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder characterized by the combination of epidermal nevi with significant central nervous system, eye, and skeletal abnormalities. Hemimegalencephaly and related brain abnormalities are the dominant neuropathologic abnormalities in ENS. Magnetic resonance imaging features of the case reported here revealed enlargement of both cerebral hemispheres and malformed basal ganglia, with incomplete separation of the caudate nucleus and putamen. In addition, the right cerebellar hemisphere was enlarged, with disorganized folia. None of these findings have been reported previously in this disorder.     

MRI of the intrinsic muscles of the hand: spectrum of imaging findings and clinical correlation

OBJECTIVE: The purpose of our study was to describe the spectrum of intrinsic hand muscle abnormalities on MRI in patients with clinically evident abnormalities of the intrinsic hand muscles and to correlate clinical and radiologic findings. MATERIALS AND METHODS: MRI of 21 hands was performed in 19 patients with clinically evident or suspected intrinsic hand muscle abnormalities. All MRI was performed on a 1.5-T scanner using transaxial T1-weighted, T2-weighted, or STIR as well as contrast-enhanced T1-weighted sequences. Two observers reviewed all MR images retrospectively in a blinded fashion with regard to the exact anatomic location of the muscle abnormality, signal abnormalities, muscle atrophy, and the cause. Kappa statistics were used to calculate interobserver variability. MRI findings were compared with clinical findings using Spearman's rank test. A panel of experts assessed the impact of MRI on the diagnostic workup. RESULTS: On the basis of MRI findings, abnormalities (either MR signal abnormality or atrophy) of both the lumbrical and interosseus muscles were noted in 10 (48%) of 21 hands, of the thenar muscles in eight (38%) of 21 hands, and of the hypothenar muscles in 12 (57%) of 21 hands. The correlation between clinical and MRI findings was moderate to strong for the interosseus, thenar, and hypothenar muscles (0.43-0.84). MRI was judged to be useful for establishing the final diagnosis in 17 (81%) of 21 hands. CONCLUSION: MRI of the hands is useful and correlates well with clinical findings in patients with intrinsic hand muscle abnormalities.     

Cerebrotendinous xanthomatosis: cranial CT and MRI studies in eight patients

Summary We report the findings on cranial computed tomography (CT) and magnetic resonance imaging (MRI) and their correlation with the clinical manifestations, disease severity and biochemical abnormalities in eight patients with cerebrotendinous xanthomatosis. CT revealed cerebral atrophy in seven cases, cerebellar atrophy in four and focal low density lesions in the cerebral white matter in two. T2-weighted MRI showed high signal lesions in the cerebral white matter, focal in four cases and diffuse in one, and in the globus pallidus in three patients, two of whom also had lesions in the cerebellar white matter. While severely affected patients showed variable CT and MRI abnormalities, our cases did not show the dramatic findings expected from the neurological manifestations. Diffuse lesions in the cerebral and cerebellar white matter have been emphasized in previous reports, but in our study the focal lesions in the cerebral white matter were also present; the globus pallidus was frequently involved.     

MR imaging of the brachial plexus: current imaging sequences,normal findings,and findings in a spectrum of focal lesions with MR-pathologic correlation

Currently in many centers, magnetic resonance (MR) imaging is the technique of choice for the assessment of brachial plexopathies. The anatomy of the brachial plexus is complex, and is surrounded by other anatomic structures, making artifact-free imaging quite challenging. With the faster breathing-independent and breath-hold MR imaging sequences, brachial plexopathies can be assessed with more confidence. Over a 2-year period, 20 patients underwent MR imaging of the brachial plexus at our department. MR imaging was based on a comprehensive protocol, including T(1)-weighted gradient echo, T(2)-weighted single-shot fast spin-echo, and gadolinium-enhanced T(1)-weighted gradient echo with fat suppression. Nine of the 20 patients had proved diagnoses at pathology, and included schwannoma (n = 2), ganglioneuroblastoma (n = 1), hemangioma (n = 1), metastatic breast cancer (n = 2), Pancoast tumor (n = 1), and metastatic lung cancer (n = 2). Most of the lesions had presenting symptoms, such as pain, swelling, paresthesia, and arm weakness. At MR imaging, the location and characteristics of the lesions on different types of T(1)-weighted and T(2)-weighted sequences were described with pathologic correlation.     

Vertebral artery dissection: spectrum of imaging findings with emphasis on angiography and correlation with clinical presentation.

A study was performed to evaluate the relationship between the imaging features and clinical presentation of vertebral artery (VA) dissection. Twenty-two patients with 24 VA dissections at angiography and clinical evaluation also underwent computed tomography and magnetic resonance imaging. The angiographic patterns of VA dissection were categorized as aneurysmal (n = 10) or steno-occlusive (n = 14). All 10 patients (10 lesions) with the aneurysmal pattern had dissection in the V4 (intradural) segment and presented with headache (n = 5), neurologic deficit (n = 2), dizziness (n = 2), or altered mentality (n = 1). However, the 12 patients (14 lesions) with the steno-occlusive pattern had dissection from the V1 segment to the V4 segment and presented with neurologic deficits caused by infarction of an embolic nature. Overall, the most frequent VA dissection site was the V4 segment. The distribution of the dissection sites and the clinical presentation tended to differ according to the angiographic patterns of aneurysm or stenosis-occlusion.     

Granulomatous mastitis: imaging findings with histopathologic correlation

OBJECTIVE: The purpose of this study is to evaluate the mammographic and ultrasonographic characteristics of granulomatous mastitis and to correlate the imaging features with the histologic findings. MATERIALS-METHODS: 15 patients with diagnosis of idiopathic granulomatous mastitis were examined with mammography and ultrasonography. The clinical, pathologic and imaging features were retrospectively reviewed and correlated in all patients. RESULTS: Mammographic examination showed an asymmetric density with no distinct margins in 8 patients and an ill-defined mass in 3 patients. In 4 cases, no abnormal finding was detected on the mammography. Sonographic examination demonstrated an irregular mass with tubular connections in 5 patients, single or multiple hypoechoic tubular/nodular structures in 6, and focally or segmentally decreased parenchymal echogenity with acoustic shadowing in 4 patients. The imaging findings suggested a malignant tumor in 7 patients, while an inflammatory process or intraductal papilloma was considered in the differential diagnosis of the other patients. CONCLUSION: Granulomatous mastitis usually presents with clinical findings mimicking a carcinoma. The most common mammographic appearance of the lesion is an asymmetrically increased density, which is not characteristic for this entity. Sonographic patterns of the disease are varied and appear to relate to the histologic features. Findings include a mass-like appearance, tubular/nodular hypoechoic structures and focal decreased parenchmal echogenicity with acoustic shadowing. With awareness of the findings granulomatous mastitis can be considered in the differential diagnosis.     

Synovial osteochondromatosis: the spectrum of imaging findings

Imaging plays a vital role in the diagnosis and management of synovial osteochondromatosis, a proliferative disorder of the synovium with associated loose body formation. The aim of this pictorial review is to illustrate the radiographic, computed tomographic and magnetic resonance appearances of various stages of the disease.     

CT and MR imaging findings of xanthogranulomatous cholecystitis: correlation with pathologic findings

The aim of this study was to evaluate CT and MRI findings in xanthogranulomatous cholecystitis (XGC) and to correlate the imaging findings with various pathologic parameters. The study included 13 patients with histopathologically confirmed XGC. The CT (n=13) and MRI (n=5) obtained in these patients were evaluated retrospectively. On CT, low-attenuation areas in the wall of XGC correlated with foam and inflammatory cells or necrosis and/or abscess in XGC. Areas of iso- to slightly high signal intensity on T2-weighted images, showing slight enhancement at early phase and strong enhancement at last phase on dynamic study, corresponded with areas of abundant xanthogranulomas. Areas with very high signal intensity on T2-weighted images without enhancement corresponded with necrosis and/or abscesses. Luminal surface enhancement (LSE) of gallbladder wall represented preservation of the epithelial layer. The early-enhanced areas of the liver bed on dynamic CT and MR images corresponded with accumulation of inflammatory cells and abundant fibrosis. Our results indicate that CT and MRI findings correlate well with the histopathologic findings of XGC.     

Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging

Purpose

The purpose of this study was to explore brain abnormalities in nonketotic hyperglycinemia (NKH) using diffusion-weighted imaging (DWI) and when feasible, diffusion tensor imaging (DTI) and tractography.

Methods

Seven patients with confirmed diagnosis of NKH (8 days–2 years) underwent brain MRI. Conventional T1 and T2WI were acquired in all patients, DWI in six and DTI and tractography in two (4 months and 2 years). Measurements of fractional anisotropy (FA), radial diffusivity (RD), axial diffusivity (AD) and Trace from eight white matter regions were compared between the two patients and age-matched controls. Tractography of corpus callosum, superior longitudinal fasciculus and corticospinal tracts was performed with extraction of their FA and diffusivity indices.

Results

MRI showed nonspecific brain atrophy in three children. Corpus callosum atrophy was found as a part of these atrophic changes. Cerebellar vermian hypoplasia and supratentorial hydrocephalus were seen in one patient. The topographic distribution of diffusion restriction was different among patients. The affected white matter regions were not predominantly following the expected areas of myelination according to patients’ age. Deep grey matter nuclei were affected in one patient. DTI revealed lower FA with higher RD in most of the measured white matter regions and tracts. These changes were more appreciated in the 2-year-old patient. However, Trace was higher in the 2-year-old patient and lower in the 4-month-old one. The extracted tracts were decreased in volume.

Conclusion

DWI, DTI and tractography with FA and diffusivity measurements can give insights into white matter microstructural alterations that can occur in NKH.