Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is a rare neurodegenerative disease resulting from mutations in the colony stimulating factor 1 receptor gene. Accurate diagnosis can be difficult because the associated clinical and MR imaging findings are nonspecific. We present 9 cases with intracranial calcifications distributed in 2 brain regions: the frontal white matter adjacent to the anterior horns of the lateral ventricles and the parietal subcortical white matter. Thin-section (1-mm) CT scans are particularly helpful in detection due to the small size of the calcifications. These calcifications had a symmetric "stepping stone appearance" in the frontal pericallosal regions, which was clearly visible on reconstructed sagittal CT images. Intrafamilial variability was seen in 2 of the families, and calcifications were seen at birth in a single individual. These characteristic calcification patterns may assist in making a correct diagnosis and may contribute to understanding of the pathogenesis of leukoencephalopathy.

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

OBJECTIVE: To report a new American family with hereditary diffuse leukoencephalopathy with spheroids (HDLS), including serial, presymptomatic and symptomatic, cranial MRIs from the proband. METHODS: We report clinical and genealogic investigations of an HDLS family, sequential brain MRIs of the proband, and autopsy slides of brain tissue from the proband's father. RESULTS: We identified seven affected family members (five deceased). The mean age at symptomatic disease onset was 35 years (range: 20-57), and the mean disease duration was 16 years (range: 3-46). Five affected individuals initially manifested memory disturbance and behavioral changes, whereas two experienced a mood disorder as their presenting symptom. Our proband's father had been diagnosed clinically with vascular dementia, but his brain autopsy was consistent with HDLS. The proband had a cranial MRI prior to symptom onset, with two subsequent MRIs performed during follow-up. These serial images reveal a progressive, confluent, frontal-predominant leukoencephalopathy with symmetric cortical atrophy. CONCLUSIONS: The proband of our newly identified hereditary diffuse leukoencephalopathy with spheroids (HDLS) kindred had subtle evidence of an incipient leukoencephalopathy on a presymptomatic cranial MRI. Conceivably, MRI may facilitate identifying affected presymptomatic individuals within known HDLS kindreds, increasing the likelihood of isolating the causative genes.

Autosomal dominant dystonia-plus with cerebral calcifications.

OBJECTIVE: To report genealogic, clinical, imaging, neuropathologic, and genetic data from a Canadian kindred with dystonia and brain calcinosis originally described in 1985. METHODS: The authors performed clinical examinations and CT and PET studies of the head and analyzed blood samples. One autopsy was performed. RESULTS: The family tree was expanded to 166 individuals. No individuals were newly affected with dystonia, but postural tremor developed in two. The mean age at symptom onset was 19 years. Eight individuals had dystonia: three focal, one segmental, one multifocal, and three generalized. Seven displayed additional signs: chorea, intellectual decline, postural tremor, and dysarthria. CT studies were performed on five affected and 10 at-risk family members. All affected individuals and eight at-risk individuals had brain calcinosis. PET scans in two individuals showed reduced D(1)- and D(2)-receptor binding and reduced uptake of 6-[(18)F]fluoro-l-dopa. Autopsy of one affected individual showed extensive depositions of calcium in the basal ganglia, thalamus, cerebral white matter, and cerebellum. No specific immunohistochemistry abnormalities were seen. Genome search data showed no evidence of linkage to the previously described loci IBGC1, DYT1, and DYT12. CONCLUSIONS: The phenotype of this family consists of dystonia-plus syndrome. Brain calcium deposits vary in severity and distribution, suggesting that calcifications alone are not entirely responsible for the observed clinical signs. Further studies are needed to elucidate the etiology of this heterogeneous group of disorders.

Routine use of gradient-echo MRI to screen for cerebral amyloid angiopathy in elderly patients.

OBJECTIVE: The objective of this study was to evaluate the routine use of gradient-refocused echo MRI sequences in the detection of cortical cerebral microbleeding suggestive of cerebral amyloid angiopathy in elderly patients (> 70 years old). CONCLUSION: The addition of gradient-refocused echo sequences to routine brain MRI resulted in the identification of cerebral amyloid angiopathy-related microbleeding in 15.5% of elderly patients. In most (86.7%) of these patients with positive findings, cerebral amyloid angiopathy was not suspected clinically, and 46.7% of these patients were undergoing anticoagulant or aspirin therapy, placing them at an increased risk of recurrent intracranial hemorrhage and catastrophic stroke.

Angiocentric T-cell lymphoma presenting with multiple cranial nerve palsies and retrobulbar optic neuropathy.

Angiocentric T-cell lymphoma (lymphomatoid granulomatosis) may present with prominent central nervous system (CNS) findings with variable radiographic features. We describe a patient who presented with multiple cranial nerve palsies involving the left optic nerve, left facial nerve, left ocular motor nerves, and bilateral acoustic nerves. Enhancement of the right temporal meninges and a cavernous sinus mass were noted on magnetic resonance (MR) scan. A right temporal craniectomy and meningeal biopsy were performed. Meningeal biopsy revealed atypical angiocentric granulomatous lymphoid infiltrates without associated necrosis, giant cells, or granuloma formation. Morphologic and T-cell, receptor gene rearrangement findings were diagnostic of an angiocentric T-cell lymphoma. Retrobulbar optic neuropathy and multiple cranial nerve palsies may be the presenting features of angiocentric T-cell lymphoma. The neurologic and unique radiographic changes in our case expand the previously reported findings in CNS angiocentric T-cell lymphoma.

White matter lesions and cerebral atrophy on MR images in patients with and without AIDS dementia complex.

OBJECTIVE: The objective of this study was threefold: to determine if the frequency of deep white matter changes and cerebral atrophy seen on MR images is significantly different between patients with and without AIDS dementia complex, to determine if certain patterns of white matter changes are more closely associated with AIDS dementia complex, and to determine if focal lesions within the white matter of the splenium are more common in AIDS dementia complex. MATERIALS AND METHODS: Forty-five patients with AIDS were clinically examined for AIDS dementia complex. MR images from these patients were retrospectively reviewed without knowledge of the clinical results. The presence or absence of white matter abnormalities and cerebral atrophy was evaluated by using graded scales and correlated with the presence or absence of AIDS dementia complex. RESULTS: Ten patients met the criteria for AIDS dementia complex. Eight of 25 patients in whom MR images showed abnormal signal intensity in deep white matter had dementia compared with two of 20 in whom MR showed no changes in deep white matter. The presence of these deep white matter abnormalities was not significantly different between groups with and without dementia (p = .08), although higher grades of deep white matter abnormality were more likely to be associated with AIDS dementia complex. Nine of 19 patients in whom MR images showed atrophy had dementia compared with one of 26 in whom MR showed no atrophy. Atrophy was significantly associated with AIDS dementia complex (p = .001). Eight of 15 patients in whom MR images showed abnormal signal intensity within the white matter of the splenium had dementia compared with two of 30 in whom MR showed normal signal intensity in this area. The degree of abnormality in the splenium was weakly associated with AIDS dementia complex (Kendall's tau = .471, p = .001). CONCLUSION: MR findings of cerebral atrophy and abnormal signal intensity in the splenium are associated with AIDS dementia complex. The presence of generalized deep white matter abnormalities does not differ significantly between patients with and without dementia, although more severe grades of white matter abnormality are more likely to be seen in patients with AIDS dementia complex.

Infected epidermoid cyst of the sphenoid bone.

An infected epidermoid cyst presented on CT as a primarily dense, sclerotic expansile lesion in the greater wing of the sphenoid bone. Presumably, infection was responsible for the atypical appearance.

Dislocation of the cuboid bone without fracture.

A 37-year-old man presented following an inversion plantar flexion injury to the left foot and ankle. Dislocation of the cuboid without associated fracture was identified and successfully treated by closed reduction. The patient was immobilized in a walking cast for seven weeks after surgery and no further dislocation occurred.