MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease)

The clinical, biochemical and magnetic resonance imaging findings of two patients with cerebrotendinous xanthomatosis are reported. This is a rare hereditary disease. Early recognition of this entity is important in view of the existing treatment possibilities. Magnetic resonance imaging findings typically include a bilateral and almost symmetrical increase of the signal intensity on the T2-weighted images in the cerebellar and periventricular cerebral white matter, the basal ganglia, the dentate nuclei and the brainstem as well as cerebellar and cerebral atrophy. Received: 18 January 1999; Revised: 3 June 1999; Accepted: 7 June 1999     

Kimura disease: CT and MR findings.

The lesions of Kimura disease showed slightly high and very high intensity on T2-weighted MR, and low and intermediate intensity, respectively, on T1-weighted images. The degree of enhancement also differed between the two cases. These discrepancies may be attributable to differing degrees of fibrosis and vascular proliferation.     

Kikuchi disease: CT and MR findings.

Two cases of Kikuchi disease showed variable nodal enhancing features, including homogeneous enhancement and focal or extensive nodal necrosis on contrast-enhanced CT scans. At MR imaging, the area of central necrosis was isointense or hypointense on T1-weighted images and had a lower signal than nonnecrotic areas on T2-weighted images. The CT appearance of Kikuchi disease can be variable and can mimic not only lymphoma but various nodal diseases with nodal necrosis, including metastasis and tuberculosis.     

Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings

PURPOSE: To describe imaging findings and their neuropathologic correlate in patients with cerebrotendinous xanthomatosis (CTX). MATERIALS AND METHODS: Computed tomographic (CT) and magnetic resonance (MR) images in 24 patients with symptoms (mean age at time of imaging, 37 years; mean disease duration, 18 years) were reviewed for site and frequency of brain, spinal cord, and Achilles tendon involvement. Two patients died, and imaging findings were compared with postmortem neuropathologic findings. RESULTS: Apart from nonspecific supratentorial atrophy and deep white matter changes, more typical hyperintense lesions were seen on T2-weighted images in the dentate nucleus (in 79% of patients), globus pallidus, substantia nigra, and inferior olive and extended into adjacent white matter as disease progressed. In these locations, lipid crystal clefts and perivascular macrophages, neuronal loss, demyelination, fibrosis, and reactive astrocytosis were found at microscopic examination. Hypointensity was sometimes found on T2-weighted images in the dentate nucleus and was related to deposition of hemosiderin and calcifications. CT depicted fewer lesions; all had low attenuation, except for the calcifications. Spinal cord MR imaging revealed increased signal intensity in the lateral and dorsal columns on T2-weighted images. Achilles tendon xanthomas displayed intermediate signal intensity on T1- and T2-weighted images. CONCLUSION: The typical pattern of MR imaging findings reflects the classic histopathologic findings and should prompt the diagnosis of CTX.     

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.     

Marchiafava-Bignami disease: CT and MR findings

We describe characteristic findings in a patient with Marchiafava-Bignami disease who was serially imaged with CT and MR. Involvement of the entire corpus callosum was visualized with both types of imaging. Following administration of gadolinium-DTPA, the lesion was clearly enhanced in the subacute stage. Correspondence to: S. Otake     

Lhermitte-Duclos disease: CT and MR findings

The typical CT findings of Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) are a hypodense nonenhancing unilateral posterior fossa mass, with or without adjacent occipital thinning, hydrocephalus, and calcification. Magnetic resonance (MR) has been found to be very helpful, and superior to CT, in delineating the margins of the lesion for determining the extent of surgical resection. Since recurrence is known, MR is important in the follow-up of these patients. To our knowledge this is the first reported case that included MR examination with administration of gadolinium. There was no enhancement of the lesion, consistent with previous reports of no contrast enhancement on CT.     

Bilateral neonatal Sturge-Weber-Dimitri disease: CT and MR findings.

The CT and MR features of cortical calcification and meningeal angiomatosis are typical of Sturge-Weber-Dimitri disease but are unusual in children less than 1 year of age. This case describes a child presenting with both of these features bilaterally in the neonatal period and represents an unusual presentation of this disorder.     

Kimura disease: CT and MR imaging findings

BACKGROUND AND PURPOSE:KD is a rare chronic inflammatory disorder of unknown etiology. The purpose of this study was to evaluate the CT and MR imaging findings of KD in the head and neck.MATERIALS AND METHODS:We retrospectively reviewed the CT (n = 21) and MR (n = 9) images obtained in 28 patients (24 males and 4 females; mean age, 32 years; age range, 10–62 years) with histologically proved KD in the head and neck.RESULTS:In these 28 patients, CT and MR images demonstrated a total of 52 non-nodal lesions, 1–8 cm in greatest diameter, in the head and neck. The lesions were unilateral in 11 patients and bilateral in 17 patients. Eleven patients had a solitary lesion, and 17 patients had 2–4 lesions. The parotid and/or periparotid area was the most frequent location, with 36 lesions in 23 patients. The margin of the lesions was well-defined in 1 and ill-defined in 51 cases. Compared with the adjacent muscle, the MR signal intensity of all lesions was iso- to slightly hyperintense on T1-weighted images and hyperintense on T2-weighted images. Most of the lesions demonstrated mild or moderate enhancement on postcontrast CT scans and moderate or marked enhancement on postcontrast MR images. MR images also showed tubular signal-intensity voids in 7 of 13 lesions. Associated lymphadenopathy was demonstrated in 23 patients, usually bilaterally.CONCLUSIONS:Multiple ill-defined enhancing masses within and around the parotid gland with associated regional lymphadenopathy are characteristic CT and MR imaging findings of KD in the head and neck.

KD is a rare chronic inflammatory disorder of unknown etiology, characterized by angiolymphoid proliferation with peripheral eosinophilia and elevated serum IgE. The disease has a predilection for the head and neck and typically occurs in young Asian males.^1,2 Although it was first described in the Chinese literature in 1937 under the designation of “eosinophilic hyperplastic lymphogranuloma,” it was not until 1948 that the disease to become widely known as KD when Kimura and Ishikawa³ reported it in the Japanese literature.⁴ KD often produces subcutaneous tumorlike nodules with frequently associated involvement of the major salivary gland and regional lymph nodes.⁵Although the clinical and histopathologic findings of KD have been well described in the literature, only a few reports have dealt with its radiologic findings, and generally as case reports or small case series.^6–15 The purpose of this study was to describe the CT and MR imaging findings of histologically proved KD involving the head and neck in 28 patients. To our knowledge, this is the largest imaging study of patients with KD of the head and neck.     

Meningioangiomatosis: CT and MR findings.

Meningioangiomatosis (MA) is a rare hamartomatous lesion of the cerebral cortex; to date only 18 cases with imaging findings have been reported in the English literature. The origin of MA is probably malformative, with possible association with neurofibromatosis. These lesions frequently cause seizures in young patients. We report two new cases seen at our institution and present their CT and MR findings clearly illustrating MA cortex infiltration. Gd-DTPA used in one of the two cases failed to cause enhancement.     

Cerebral hydatid disease CT and MR findings

In this study, we reviewed the computed tomography (CT, n=9) and magnetic resonance (MR, n=5) imaging findings of 11 patients with pathologically confirmed cerebral hydatid disease. Among our patients, there were 10 cases of Echinococcus granulosus and 1 case of Echinococcus multilocularis. Common CT and MR imaging findings of E. granulosus lesions were well-defined, smooth thin-walled, spherical, homogeneous cystic lesions with no contrast enhancement, no calcification, and no surrounding edema. E. multilocularis lesions showed calcified round, solid pattern with definite margins, contrast enhancement, and surrounding edema.     

Wegener granulomatosis: CT and MR findings.

PURPOSETo demonstrate the spectrum of CT and MR imaging findings in patients with Wegener granulomatosis and to determine how often these findings could be attributed to either direct extension from paranasal or orbital disease sites, remote granulomas, or central nervous system (CNS) vasculitis.METHODSWe retrospectively reviewed the CT or MR studies of 15 patients with Wegener granulomatosis.RESULTSAbnormal findings were seen in 7 patients (5 examined with MR imaging, 2 with CT). Findings included dural thickening and contrast enhancement (3 patients), infarcts (2 patients), regions of hyperintense signal on T2-weighted MR images (2 patients), and abnormal MR signal in the brain stem (2 patients). Three patients with imaging findings of dural enhancement and thickening were thought to have remote granulomatous lesions involving the dura. No patients had extension from sites external to the CNS or clinical findings suggestive of CNS vasculitis.CONCLUSIONThe spectrum of CT and MR findings in Wegener granulomatosis includes dural thickening and enhancements cerebral infarction, and MR signal abnormalities in the brain stem and white matter. Presumed remote granulomatous lesions were the most common causes of CNS findings in this study. Complications related to non-CNS disease (eg, hypertension, endocarditis) also appear to have played a role in some patients.     

Cerebellomedullary ganglioglioma: CT and MR findings.

We present a case of cerebellomedullary ganglioglioma in a young child with indolent clinical symptoms. CT demonstrated a region of hypodensity with central contrast enhancement in the right cerebellar hemisphere and the inferior peduncle. On MR the lesion was iosintense on T1-weighted images with fairly homogeneous enhancement with gadolinium, and of high signal intensity on T2-weighted images.     

Neonatal hypoglycemia: CT and MR findings.

A case of neonatal hypoglycemia with extensive occipital cortical loss is presented. Imaging studies revealed a predominance of brain parenchymal loss in the occipital lobes bilaterally with nearly complete absence of cortex in the posterior parietal and occipital regions and generalized thinning of the cortex throughout the brain.     

Glioependymal cysts: CT and MR findings.

Four patients with intracranial glioependymal cysts were evaluated in our institution in the last 7 years. All underwent surgical drainage and biopsy of the cyst wall. Cranial CT revealed a uniformly hypodense lesion with no contrast enhancement in all cases. Magnetic resonance imaging studies revealed a well defined cyst that was isointense to CSF on T1-weighted images and iso- or mildly hyperintense to CSF on proton density and T2-weighted images. In one case, a fluid-fluid level was demonstrated within the cavity, indicating the presence of fluid with a high protein content. A diagnosis of glioependymal cysts can be suggested based on CSF-like intensity patterns on T1-weighted images and iso- or mild hyperintensity on T2-weighted images.     

Intracerebral schwannoma: CT and MR findings.

A case of intracerebral schwannoma in a 19-year-old man is reported. CT and MR findings were nonspecific, suggesting a primary glioma. The histologic features were of schwannoma.     

Retroperitoneal neurilemoma: CT and MR findings.

OBJECTIVE. Our objective was to characterize the CT and MR imaging findings of retroperitoneal neurilemomas. MATERIALS AND METHODS. We reviewed the CT and MR imaging findings in six women with retroperitoneal neurilemomas. RESULTS. Retroperitoneal neurilemomas were round, 5-13 cm in diameter, and located in the presacral pelvic retroperitoneum in four patients and adjacent to the kidney in two patients. CT findings of the tumors were well-demarcated round masses showing prominent cystic changes and oriented in a somewhat radial fashion. Medium and heavily T2-weighted MR images showed high-intensity necrotic areas and nonnecrotic areas of various signal intensity. CONCLUSION. CT findings of a round mass with prominent cystic degeneration, along with certain MR imaging characteristics, may be helpful in the preoperative diagnosis of retroperitoneal neurilemomas.     

Elastofibroma: CT and MR findings

Two cases of elastofibroma of the chest wall are reported. Each patient was investigated with CT and, in 1 case, MR imaging was also performed. Elastofibroma appears like a mass in the subscapular region and often presents problems of differential diagnosis. The contribution of MR imaging is reported.     

Kimura disease involving parotid gland and cervical nodes: CT and MR findings.

Kimura disease is a rare disease that occurs in Orientals. The majority of lesions occur in the head and neck and most patients have involvement of regional lymph nodes and the major salivary glands. We present a patient with parotid gland and submandibular lymph node involvement. On post-contrast CT the parotid gland enhanced intensely and the enlarged lymph nodes either enhanced diffusely or had rim enhancement. On MR the nodes had high T1-weighted and T2-weighted signal intensities as did portions of the parotid mass. There were suspected flow voids in the parotid mass. The clinical, pathological, and imaging findings are reviewed.