Massive symptomatic subependymoma of the lateral ventricles: case report and review of the literature.

Subependymomas are benign intraventricular tumors with an indolent growth pattern, which are usually asymptomatic, and most commonly occur in the fourth and lateral ventricles. When symptomatic, subependymomas often obstruct critical portions of the cerebrospinal fluid (CSF) pathway, causing hydrocephalus, and range from 3 cm to 5 cm in size. We report a case of an unusually massive subependymoma of the lateral ventricles treated with subtotal resection, ventriculoperitoneal shunt, and post-surgical radiation. The clinical course, radiographic and pathologic characteristics of this massive intraventricular subependymoma are discussed, as well as the differential diagnosis of lateral ventricular masses and a review of the literature concerning subependymomas.

Common errors in the use of magnetic resonance imaging for neuro-ophthalmic diagnosis.

The optimal utilization of magnetic resonance imaging in neuro-ophthalmic diagnosis is limited by errors in prescribing and interpreting scans. In a review of case material, we discovered four common prescriptive errors: 1) failure to apply a dedicated study, 2) inappropriate use of a dedicated study, 3) omission of intravenous contrast, and 4) omission of specialized sequences. The four common interpretive errors were the following: 1) failure to detect the lesion because of misleading clinical information, 2) rejection of a clinical diagnosis because an expected imaging abnormality was absent, 3) assumption that a striking imaging abnormality accounted for the clinical abnormality, and 4) failure to consider the lack of clinical specificity of imaging abnormalities. Many of these errors could be avoided by improved communication between clinicians and radiologists.

Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome.

BACKGROUND: Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, myopia, and cataracts, and is associated with splicing mutations in COL11A1. OBJECTIVE: To determine the auditory and vestibular phenotypes associated with a COL11A1 splicing. DESIGN: Clinical otolaryngologic, audiologic, vestibular, and radiologic evaluations of the auditory and vestibular systems. SUBJECTS: Three affected individuals from a family cosegregating Marshall syndrome and a COL11A1 splice site mutation. RESULTS: The study subjects have progressive sensorineural hearing loss that is predominantly cochlear in origin and asymptomatic dysfunction of the central and peripheral vestibular systems. Computed tomography detected no malformations of temporal bone structures. CONCLUSIONS: The observed auditory and vestibular abnormalities are not caused by defective morphogenesis of the osseous labyrinth, but by more direct effects of the COL11A1 mutation on the membranous labyrinth and the central nervous system. The onset and degree of hearing loss associated with COL11A1 mutations are useful clinical features to differentiate Marshall syndrome from the phenotypically similar Stickler syndrome.

Metastatic adenocarcinoma to the brain mimicking hemorrhage: case report.

BACKGROUND: Computerized tomography (CT) of metastatic adenocarcinoma to the brain usually shows low-to-moderate attenuation. However, mucinous adenomas may appear with high attenuation, mimicking hemorrhage. CASE DESCRIPTION: A 68-year-old man with a history of metastatic esophageal adenocarcinoma presented to the emergency room complaining of a chronic, progressive right occipital headache. A head CT demonstrated a moderate-to-high attenuation, homogenous mass in the right cerebellar hemisphere consistent with an intracerebral hemorrhage. There was no frank calcification in the mass by CT criteria. An emergent posterior fossa craniectomy revealed nonhemorrhagic metastatic mucinous adenocarcinoma. CONCLUSION: Moderate-to-high attenuation, noncalcified brain masses should raise the possibility of mucin-containing neoplasm.

Patterns of failure following high-dose 3-D conformal radiotherapy for high-grade astrocytomas: a quantitative dosimetric study.

PURPOSE: To analyze the failure patterns for patients with high-grade astrocytomas treated with high-dose conformal radiotherapy (CRT) using a quantitative technique to calculate the dose received by the CT- or MR-defined recurrence volume and to assess whether the final target volume margin used in the present dose escalation study requires redefinition before further escalation. METHODS AND MATERIALS: Between 4/89 and 10/95, 71 patients with high-grade supratentorial astrocytomas were entered in a phase I/II dose escalation study using 3-D treatment planning and conformal radiotherapy. All patients were treated to either 70 or 80 Gy in conventional daily fractions of 1.8-2.0 Gy. The clinical and planning target volumes (CTV, PTV) consisted of successively smaller volumes with the final PTV defined as the enhancing lesion plus 0.5 cm margin. As of 10/95, 47 patients have CT or MR evidence of disease recurrence/progression. Of the 47 patients, 36 scans obtained at the time of recurrence were entered into the 3-D radiation therapy treatment planning system. After definition of the recurrent tumor volumes, the recurrence scan dataset was registered with the pretreatment CT dataset so that the actual dose received by the recurrent tumor volumes during treatment could be accurately calculated and then analyzed dosimetrically using dose-volume histograms. Recurrences were divided into several categories: 1) "central," in which 95% or more of the recurrent tumor volume (Vrecur) was within D95, the region treated to high dose (95% of the prescription dose); 2) "in-field," in which 80% or more of Vrecur was within the D95 isodose surface; 3) "marginal," when between 20 and 80% of Vrecur was inside the D95 surface; 4) "outside," in which less than 20% of Vrecur was inside the D95 surface. RESULTS: In 29 of 36 patients, a solitary lesion was seen on recurrence scans. Of the 29 solitary recurrences, 26 were central, 3 were marginal, and none were outside. Multiple recurrent lesions were seen in seven patients: three patients had multiple central and/or in-field lesions only, three patients had central and/or in-field lesions with additional small marginal or outside lesions, and one patent had 6 outside and one central lesion. Since total recurrence volume was used in the final analysis, 6 of the 7 patients with multiple recurrent lesions were classified into centra/in-field category. CONCLUSION: Analysis of the 36 evaluable patients has shown that 32 of 36 patients (89%) failed with central or in-field recurrences, 3/36 (8%) had a significant marginal component to the recurrence, whereas only 1/36 (3%) could be clearly labeled as failing mainly outside the high-dose region. Seven patients had multiple recurrences, but only 1 of 7 had large-volume recurrences outside the high-dose region. This study shows that the great majority of patient recurrences that occur after high-dose (70 or 80 Gy) conformal irradiation are centrally located: only 1/36 patients (with 7 recurrent lesions) had more than 50% of the recurrence volume outside the region previously treated to high dose. Further dose escalation to 90 Gy (and beyond) thus seems reasonable, based on the same target volume definition criteria

Decrease in cortisol reverses human hippocampal atrophy following treatment of Cushing's disease.

BACKGROUND: Decreased hippocampal volume is observed in patients with Cushing's syndrome and other conditions associated with elevated cortisol levels, stress, or both. Reversibility of hippocampal neuronal atrophy resulting from stress occurs in animals. Our study investigated the potential for reversibility of human hippocampal atrophy. METHODS: The study included 22 patients with Cushing's disease. Magnetic resonance brain imaging was performed prior to transsphenoidal microadenomectomy and again after treatment. RESULTS: Following treatment, hippocampal formation volume (HFV) increased by up to 10%. The mean percent change (3.2 +/- 2.5) was significantly greater (p < .04) than that of the comparison structure, caudate head volume (1.5 +/- 3.4). Increase in HFV was significantly associated with magnitude of decrease in urinary free cortisol (r = -.61, p < .01). This relationship strengthened after adjustments for age, duration of disease, and months elapsed since surgery (r = -.70, p < .001). There was no significant correlation between caudate head volume change and magnitude of cortisol decrease. CONCLUSIONS: Changes in human HFV associated with sustained hypercortisolemia are reversible, at least in part, once cortisol levels decrease. While many brain regions are likely affected by hypercortisolemia, the human hippocampus exhibits increased sensitivity to cortisol, affecting both volume loss and recovery.

Familial Mondini dysplasia.

OBJECTIVES/HYPOTHESIS: To determine the mode of inheritance of familial nonsyndromic Mondini dysplasia. STUDY DESIGN: Correlative clinical genetic analysis of a single kindred. METHODS: Clinical history, physical examination, audiologic analysis, computed tomography of the temporal bones, and cytogenetic analysis. RESULTS: The male proband, three affected sisters, and an affected brother are offspring of unaffected parents. The mother and an unaffected brother have audiologic findings suggestive of heterozygous carrier status for a recessive hearing loss gene. CONCLUSIONS: Pedigree analysis indicates autosomal recessive inheritance in this family. The observed inheritance and clinical, audiologic, and radiologic findings are different from those previously described for another family with nonsyndromic Mondini dysplasia. The phenotype in this study family therefore represents a distinct subtype, indicating clinical and genetic heterogeneity of this disorder. This information should facilitate future molecular linkage analyses and genetic counselling of patients with inner ear malformations.

Parotid gland sparing in patients undergoing bilateral head and neck irradiation: techniques and early results.

PURPOSE: To minimize xerostomia in patients receiving bilateral head and neck irradiation (RT) by using conformal RT planning to spare a significant volume of one parotid gland from radiation. METHODS AND MATERIALS: The study involved 15 patients with head and neck tumors in whom bilateral neck radiation was indicated. The major salivary glands and the targets (tumor, surgical bed, metastases to lymph nodes, and the locations of lymph nodes at risk for metastases) were outlined on axial computed tomography images. Beam's-eye view (BEV) displays were used to construct conformal beams that delivered the prescribed doses to the targets while sparing from direct radiation most of one parotid gland. The gland that was planned to be spared resided in the neck side that was judged in each patient to be at a lesser risk of metastatic disease. Major salivary gland flow rates and the responses to a subjective xerostomia questionnaire were assessed before, during, and after radiation. RESULTS: Radiation planning for patients with central oropharyngeal tumors required the generation of multiple axial nonopposed beams. The resulting isodoses encompassed the targets, including the retropharyngeal nodes and the jugular nodes up to the base of skull bilaterally, while limiting the dose to the oral cavity, spinal cord, and one parotid gland. For patients with lateralized tumors, the ipsilateral neck side was treated up to the base of the skull; in the contralateral neck side, the treatment included the subdigastric nodes but excluded the jugular nodes at the base of the skull and most of the parotid gland. This was accomplished by a moderate gantry angle that was chosen using the BEV displays. Three months following the completion of radiation, the spared parotid glands retained on average 50% of their unstimulated and stimulated flows. In contrast, no saliva flow was measured from the unspared glands in any of the patients. Subjective xerostomia was absent, mild, or not different from that reported before radiation in 10 of 15 patients (67%). CONCLUSION: Partial parotid gland sparing is feasible by using three-dimensional planning in patients undergoing bilateral head and neck radiation. Approximately 50% of the saliva flow from the spared glands may be retained, and most patients thus treated have no or mild xerostomia in the early period after the completion of radiation. Whether tumor control and late complications are comparable to standard radiation will be assessed as more experience is gained.

Familial large vestibular aqueduct syndrome.

The large vestibular aqueduct syndrome (LVAS) is a distinct clinical entity characterized by stepwise progressive sensorineural hearing loss associated with isolated enlargement of the vestibular aqueduct. A correlative clinical, audiologic, vestibular, cytogenetic, and radiographic analysis of a family with inherited LVAS was performed. The male proband and his affected brother are offspring of unaffected parents, and have no other abnormalities. Pedigree analysis suggests autosomal recessive or X-linked inheritance with variable expressivity of LVAS in this family. This study is the first description of familial inheritance of LVAS. LVAS may account for a significant number of patients with nonsyndromal, genetic sensorineural hearing loss. Future molecular analyses of this study family may identify the causative gene(s) in LVAS.

Foramen magnum neurenteric cyst causing mollaret meningitis: MR findings.

MR showed a neurenteric cyst posterior to the cervicomedullary junction in a man with chronic recurrent aseptic meningitis. On T1-weighted MR, the cyst was of high intensity in relation to the brain, and on T2-weighted MR it was of less intensity than cerebrospinal fluid.

Imaging of normal leptomeningeal melanin.

PURPOSE: To find CT and MR characteristics of normal leptomeningeal melanin, which can be macroscopically visible at autopsy in decedents with deeply pigmented skin. METHODS: For the normal anatomic study, there were two black subjects who had brain MR and CT within 12 months before autopsy that showed leptomeningeal melanin. For the normal imaging study, brain MR was done on 74 patients (31 black), and CT in 24 of these 74 patients. RESULTS: In the normal anatomic study, the pattern of T2-weighted hypointensities on the surface of the medulla oblongata matched the histopathologic distribution of leptomeningeal melanin. A similar signal was seen in 28 of the 31 black patients in the normal imaging study. Such a signal was subtle, or entirely absent, in the other patients. CT showed no reliable altered attenuation corresponding to the histopathologic distribution of leptomeningeal melanin. CONCLUSION: Normal leptomeningeal melanin is visible on MR as T2-weighted hypointensities along the surface of the medulla oblongata. The signal changes can be profound and might simulate leptomeningeal diseases that contain melanin or iron. This normal pigmentation should be taken into account before diagnosing abnormalities in this region.

Painful oculomotor palsy caused by posterior-draining dural carotid cavernous fistulas.

BACKGROUND: Carotid cavernous fistulas cause conjunctival hyperemia and orbital soft-tissue swelling because of increased flow directed anteriorly in ophthalmic veins. Less well recognized is that when fistular flow is directed posteriorly, these congestive features will be absent and the diagnosis of the "white-eyed shunt" will be missed unless angiography is performed. METHODS: Two patients who had oculomotor nerve palsies caused by posteriorly draining dural carotid cavernous fistulas were studied, and the 28 previously described cases were reviewed. RESULTS: One patient had a chronic painful palsy of the sixth cranial nerve, and the other, a palsy of the third cranial nerve. Cerebral angiography disclosed the fistulas. The clinical and imaging features of these cases conform to those of the 28 previously reported white-eyed shunts. Angiographic features do not explain why some posterior-draining fistulas cause sixth-nerve palsies and others cause third- (or rarely, fourth-) nerve palsies. CONCLUSIONS: Dural carotid cavernous fistulas that drain primarily into the inferior petrosal sinus may cause painful oculomotor palsies that elude diagnosis because they lack congestive orbito-ocular features. Treatment by embolization leads to more rapid resolution of manifestations.

Inferior petrosal sinus: imaging-anatomic correlation.

PURPOSE: To correlate computed tomographic (CT) or magnetic resonance (MR) images with dissections of normal inferior petrosal sinuses (IPS). MATERIALS AND METHODS: Postmortem dissection was performed in 12 individuals, one of whom had undergone CT and MR imaging 3 months before death. Seven patients underwent IPS venography, CT, and MR imaging. One hundred sixteen patients with normal IPS underwent MR imaging; 40, CT and MR imaging; and two, CT, MR imaging, and arteriography. RESULTS: Images showed that the IPS and basilar plexus formed conspicuous, enhanced structures that provide much of the border between the clivus and cerebrospinal fluid. Axial, cross-sectional IPS dimensions were as large as 9 x 16 mm. The larger sinuses were contained by deep grooves of bone that sometimes showed marked cortical thinning. Sixty-nine (39%) of the 175 individuals studied had markedly asymmetric IPS. CONCLUSION: CT and MR images showed that normal IPS and basilar plexus vary in size and are frequently asymmetric. This range of normal measurements and appearances should be taken into account before abnormalities in this region are diagnosed.

Structural and functional brain imaging in Friedreich's ataxia.

BACKGROUND: Although the major neuropathologic changes in Friedreich's ataxia (FA) affect the spinal cord and peripheral nerves, we previously found abnormally increased glucose metabolism in the cerebral hemispheres in ambulatory patients and a return toward normal metabolism in nonambulatory patients. OBJECTIVE: To determine whether brain atrophy accompanies the decline in cerebral glucose metabolism in FA and whether the degree of atrophy and the extent of decline in cerebral glucose metabolism are related to clinical severity. DESIGN: Prospective series. SETTING: University referral center. PATIENTS: Twenty-two patients with FA and 26 patients with dizziness, headache, or minor acute head trauma, serving as control subjects, who underwent computed tomographic scans that were interpreted as normal. MEASURES: In patients with FA and control subjects, regional atrophy was assessed using subjective and objective measures on computed tomographic scans. In patients with FA, local cerebral glucose metabolism was measured with positron emission tomography, and clinical severity was assessed with a clinical rating scale. RESULTS: Atrophy in the cerebral hemispheres, cerebellum, and brain stem was significantly greater in patients with FA than in control subjects, and the degree of atrophy correlated with the clinical severity. Local cerebral metabolic rate for glucose declined significantly from the initially elevated levels in the thalamus, cerebellum, and brain stem in correlation with increasing clinical severity. CONCLUSIONS: The structure and function of wide-spread brain regions including the cerebral hemispheres are abnormal in FA, and these abnormalities correlate with the clinical severity.

Late local and remote structural changes after capsulotomy for obsessive compulsive disorder.

Stereotactic subcaudate capsulotomy (SC) is used to treat medically intractable obsessive compulsive disorders (OCD). Although clinical improvement has been observed, post-SC structural correlates are lacking in this biological disorder. Our study provides imaging evidence for local and distant alterations in structures which may have an important role in the manifestations of OCD. Five OCD patients treated with SC received MR imaging for pre-SC planning, early (1-7 days) post-SC assessment, and late (5-12 months) follow-up. The volumes of the anterior limb of the internal capsules, caudate heads, third ventricle, mamillary bodies, thalami, and hippocampal formations were digitally computed. Volumes from each of the serial imaging studies were compared. At 5-12 months post-SC, all patients showed reduction in volume of the anterior limbs of the internal capsules, caudate heads, thalami, and increased volume of the third ventricle (reflecting thalamic/caudate atrophy). 2-5 patients showed reduction in hippocampal formation volume. The post-SC reduction in volume of these structures, some far distant to the stereotactic lesion, suggests that the interrelationships of the anterior limb of the internal capsule, the caudate/thalamic nuclei, and possibly the pallidal and limbic systems are necessary for the manifestations of OCD and their variants.