Cases reported "Brain Diseases"

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1/125. Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset alexander disease.

    A 61-year-old woman had a 3-year history of imbalance. eye movement studies revealed square-wave jerks, gaze paretic nystagmus, rebound nystagmus, impaired smooth pursuit, impaired optokinetic nystagmus, and abnormal fixation suppression of vestibular nystagmus. A brain magnetic resonance imaging study showed extensive areas of increased signal from the middle cerebellar peduncles and dentate nuclei, which enhanced with gadolinium. Histopathological analysis of a needle biopsy specimen of the left cerebellar peduncle revealed diffuse gliosis in the presence of symmetrically distributed areas of demyelination. There were associated Rosenthal fibers. Clinicopathologic correlation supported a diagnosis of alexander disease. An adult patient with a history of progressive imbalance, ocular motility abnormalities consistent with cerebellar and/or brainstem dysfunction, and diffuse, symmetric hyperintense magnetic resonance imaging signals in brainstem and cerebellar white matter should suggest a diagnosis of adult-onset alexander disease.
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2/125. Coronal computed tomography: indications and accuracy.

    The application of wide aperture scanners to neuroradiology permits improved anatomic definition and localization of intracranial and intraorbital lesions. Coronal scans are most useful in demonstrating lesions of the skull base and apex, distinguishing between infra- and supratentorial lesions, and in determining if a lesion is intra- or extraaxial. Limitations of coronal scans include discomfort in positioning, high spatial frequency artifacts, and additional radiation exposure.
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3/125. The measurement of spatial contrast sensitivity in cases of blurred vision associated with cerebral lesions.

    Thirty-five patients with known cerebral lesions complained of recently acquired blurred vision. None of them had evident oculomotor or pupillary abnormalities, and each had intact central fields and normal visual acuity by conventional standards. Examination of spatial contrast sensitivity was carried out with sinusoidal grating patterns, by determining the minimum contrast between alternate light and dark bars required to distinguish the pattern from a homogeneous field. This was done at each of several spatial frequencies which were established by varying the width of the bars and hence the coarseness of the pattern. The contrast sensitivities were plotted as "visuograms" which, by analogy to audiograms, record the sensitivities in comparison to normal standards. Of the 35 patients, most showed significant losses, amounting to greater than 50 per cent elevation of contrast thresholds. Eighteen showed high frequency losses; 11 had uniform reductions over the entire visible spatial frequency range and 6 had selective frequency losses in the intermediate frequency ranges. These defects in spatial contrast sensitivity, which were not predictable from standard acuity scores, indicate that the visual symptoms in our patients may have been caused by damage to frequency-selective neural elements in the central visual systems. The method may be used to advantage in clinical investigations as well as in physiological investigations of the functional pathways subserving central vision.
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4/125. Treatment of seizures in subcortical laminar heterotopia with corpus callosotomy and lamotrigine.

    Focal and generalized cortical dysgeneses are sometimes seen on the magnetic resonance images (MRI) of patients with epilepsy. Subcortical laminar heterotopia are bilateral collections of gray matter in the centrum semiovale that resemble a band or "double cortex" on MRI. We studied one male and two female patients with subcortical laminar heterotopia who had moderate to severe developmental delay, early-onset epilepsy, and medically refractory seizures. Atonic, atypical absence, tonic, myoclonic, complex partial, and generalized tonic-clonic seizures were recorded. Interictal and ictal electroencephalographic patterns were generalized and, less commonly, multifocal. Two years after corpus callosotomy, one patient was free of generalized tonic-clonic and atonic seizures, but the other patient who had undergone callosotomy had no significant reduction in seizure frequency. With lamotrigine treatment, the patient who had not had surgery had complete cessation of monthly episodes of status epilepticus and a dramatic reduction of generalized tonic-clonic seizures, and the other patient who received lamotrigine had a 50% reduction of her atonic seizures. In patients with subcortical laminar heterotopia, atonic and generalized tonic-clonic seizures can be substantially reduced or eliminated by corpus callosotomy or treatment with lamotrigine.
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5/125. Cytologic diagnosis of a solitary brain metastasis from papillary carcinoma of the thyroid. A case report.

    BACKGROUND: Papillary carcinoma of the thyroid metastasizes to the brain in rare instances. In published series and case reports of metastatic papillary thyroid carcinoma, diagnosis of central nervous system (CNS) metastases has been determined by histologic methods. We present a case of papillary carcinoma metastatic to brain diagnosed by cytologic methods. CASE: A 43-year-old female, initially diagnosed at age 12 with papillary carcinoma of the thyroid metastatic to regional lymph nodes and lung, presented with head aches of increasing frequency and severity. A computed tomography scan confirmed a 1-cm nodule in the right inferior frontal lobe of the brain. For clinical reasons, the patient was followed with serial imaging for five years. At age 48 there was significant progression of the CNS disease, and the patient underwent stereotactic biopsy with drainage of cyst fluid. Cytologic examination of the cyst fluid and immunocytochemical studies confirmed the typical features of papillary thyroid carcinoma, including papillary clusters of cells with finely granular chromatin, micronucleoli, nuclear grooves and an associated psammoma body. CONCLUSION: Neurocytology is a useful technique in the examination of cystic lesions of the brain and may be the sole technique for determination of diagnosis.
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6/125. Micturitional disturbance in a patient with neurosarcoidosis.

    We report a case of neurosarcoidosis in which urodynamic studies showed neurogenic bladder dysfunction. A 30-year-old man began to have slowly progressive gait ataxia of vestibular origin, deafness, and hallucination, which developed into versive seizure and stupor. Brain computed tomography and magnetic resonance imaging showed the anteromedial frontal lobe lesion with mild ventricular enlargement. The cerebrospinal fluid examination revealed pleocytosis with raised total protein and angiotensin-converting enzyme levels. Endoscopic lung biopsy showed epithelioid granuloma. Oral prednislone (60 mg/day) ameliorated his symptoms. After tapering steroids, however, he developed urinary urgency, frequency, urge urinary incontinence, and a relapse of gait ataxia. The urodynamic study showed detrusor hyperreflexia. prednisolone treatment again improved his urinary and neurological symptoms. The anteromedial frontal lobe lesion seems to be responsible for the micturitional disturbance in our patient with neurosarcoidosis.
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7/125. Unilateral periventricular nodular heterotopia associated with diffuse areas of cerebral functional abnormalities.

    A 17-year-old boy with polymorphic simple and complex partial seizures is described. magnetic resonance imaging revealed a unilateral periventricular nodular heterotopia near the occipital ventricular right horn. Interictal and ictal electroencephalographic recordings showed bilateral specific epileptiform anomalies in the occipital region and asynchronous slow waves in frontal areas. Single photon emission computed tomography documented a reduction in regional cerebral blood flow in an area of the left occipital cortex and a symmetric increase in tracer uptake in the frontal lobes. The neuropsychologic assessment revealed a dysfunction of the frontal associative areas. Data collected led the authors to suspect a more diffuse cortical dysfunction than the nodular heterotopia revealed on magnetic resonance imaging.
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8/125. The clinical value of electroencephalogram/magnetic resonance imaging co-registration and three-dimensional reconstruction in the surgical treatment of epileptogenic lesions.

    With the rapid developments in image processing, new clinical applications of manipulation and three-dimensional (3-D) reconstruction of neuro-imaging are evolving. Combination with other non-invasive techniques aimed at localising electric sources in the brain is of particular interest. These techniques rely on the recording of brain electrical activity and/or the associated magnetic fields from multiple areas on the scalp. Data obtained from an electroencephalogram (EEG) or from magnetoencephalography (MEG) can be fused in 3-D arrangement with anatomical [magnetic resonance imaging/computerised tomography (MRI/CT)] and/or metabolic [positron emission tomography (PET)] data. Such techniques highlight information on the functional correlates of anatomical or space-occupying lesions and their role in the localisation of related symptomatic epilepsy. In the present study we report on methodological issues and preliminary clinical data on spectral EEG/MRI co-registration procedures, offering two examples of children presenting with hemispheric lesions, one frontal tumour and one temporal arterio-venous malformation. The EEG was acquired from 32/64 electrode location. The electrode position and that of four reference points were measured with a dual sensor Polhemus 3D Isotrak digitiser. Sources of EEG activity were determined in 3-D space with the inverse solution method low resolution electromagnetic tomography (LORETA), providing for each frequency component, the topographic distribution of active electrical sources. The positions of the reference points were also measured on MRI, and co-registration of EEG and MRI was achieved using a transformation algorithm. The reconstructed 3-D images of co-registered EEG/MRI clearly demonstrate the relationship between the space-occupying lesion and the epileptic activity. Preliminary results show that in all the patients it was possible to identify with a remarkable accuracy the 3-D topographic relationship between lesion and cortical areas showing localised abnormalities on the EEG. The present method could further enhance the understanding of the effect of resective treatment of structural lesions on brain functioning. The new combined images can be used in combination with image-guided surgery equipment to modify effective surgical resection.
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9/125. Latent coeliac disease in a child with epilepsy, cerebral calcifications, drug-induced systemic lupus erythematosus and intestinal folic acid malabsorption associated with impairment of folic acid transport across the blood-brain barrier.

    A 15-year-old boy with epilepsy and cerebral calcifications, treated with valproic acid, ethyl phenylbarbiturate and ethosuximide, was referred for drug induced systemic lupus erythematosus. Anti-gliadin (AGA) and anti-endomysium (EMA) antibody tests were both positive (EMA titre 1:50). Endoscopic duodenal biopsy showed intense chronic inflammation without villous atrophy or crypt hyperplasia. The child was discharged with a gluten-containing diet. The follow-up showed an increase in EMA titre (1:200) and the persistence of AGA. After 15 months, a second endoscopic intestinal biopsy showed flat mucosa and villous atrophy. Three serum folic acid determinations showed 1.8, 2.4, 2.0 ng/ml (reference range 2.5-16.9 ng/ml) prior to the two intestinal biopsies, but returned to normal levels (11.8 ng/ml) after a gluten-free diet and oral supplementation together. Two years later, the frequency of epileptic seizures was unchanged despite ongoing anti-epileptic treatment and a gluten-free diet. As cerebral calcification and epilepsy are reminiscent of the findings in congenital folate malabsorption, oral loading tests with 5 mg folic acid were carried out and showed impaired intestinal absorption and a defect in the transport across the blood-brain barrier. Low CSF folate levels (13.9 and 12.6 ng/ml, reference range 15-40 ng/ml) and an alteration in the CSF/serum folate ratio (1.43 and 1.16, normal ratio 3:1) were also found as well as increased levels of cystathionine both in CSF (40 micromol/l, reference range 18-28 micromol/l) and in serum (32 micromol/l, reference value <0.10 micromol/l). CONCLUSION: Impairment of intestinal folic acid absorption with a defect in folic acid transport across the blood-brain barrier has been demonstrated in a case of epilepsy and cerebral calcifications associated with coeliac disease.
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10/125. Benign occipital epilepsy mimicking a catastrophic intracranial event.

    OBJECTIVE: To describe the rare, dramatic, presentation of benign occipital epilepsy. methods: We describe three children who presented to the pediatric emergency department from 1992 to 1996 with a clinical picture of catastrophic intracranial event. RESULTS: The main signs and symptoms were loss of consciousness in all patients, apnea in two, hemiclonus in two, general hypertonicity in two, eye deviation in two, fixed dilated pupils in one, and decorticate rigidity in two. All underwent emergency intubation, brain scan, and lumbar puncture, and all were treated with antibiotics, in addition to antiviral drugs in two. Two patients were also treated for suspected increased intracranial pressure. Two patients recovered within a few hours and one within 24 hours of admission without any residual neurologic deficit. Electroencephalograms, done within 48 hours after the event, revealed the classic pattern of occipital epilepsy in two patients and bilateral occipital slow wave in one. A 3- to 5-year clinical and electroencephalographic follow-up supported the diagnosis. CONCLUSION: Benign occipital epilepsy in children can mimic a catastrophic intracranial event. electroencephalography, performed early in the Pediatric intensive care Unit, may avoid or shorten unnecessary and aggressive treatments such as hyperventilation, diuretic agents, and prolonged antiviral therapy.
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