1/259. Lymphomatosis cerebri presenting as a rapidly progressive dementia: clinical, neuroimaging and pathologic findings.Primary central nervous system lymphoma (PCNSL) usually presents with clinical and neuroimaging findings consistent with single or multiple intracranial mass lesions. On cranial magnetic resonance imaging (MRI), such lesions are nearly always contrast enhancing, reflecting disruption of the blood-brain barrier at the site of tumor nodules. We describe 2 cases from the UCLA Medical Center who developed a rapidly progressive dementia due to extensive gray and white matter cerebral lesions involving much of the brain. In the patient who came to autopsy, widely infiltrating, focally necrotic B-cell plasmacytoid lymphoma was noted throughout the cerebral neuraxis. MRI findings in case 2 were consistent with diffuse lymphomatous brain infiltration without mass lesions, which was biopsy proven. We conclude that PCNSL may occur in a diffusely infiltrating form which may occur without MRI evidence of mass lesions or blood-brain barrier compromise. We refer to this entity as 'lymphomatosis cerebri' and add it to the differential diagnosis of a rapidly progressive dementia.- - - - - - - - - - ranking = 1keywords = contrast (Clic here for more details about this article) |
2/259. Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen.We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia.- - - - - - - - - - ranking = 3.2064433726878keywords = sensitivity (Clic here for more details about this article) |
3/259. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.- - - - - - - - - - ranking = 3.1940944687836keywords = visual (Clic here for more details about this article) |
4/259. Progressive brown discoloration of silicone intraocular lenses after vitrectomy in a patient on amiodarone.A patient who was treated with amiodarone for 3 years developed brown discoloration of the intraocular lenses in both eyes. contrast sensitivity and blue perception were reduced in the right eye. After vitrectomy for a vitreoretinal traction syndrome in the left eye, the discoloration appeared to increase. The apparent progression may have been related to breakdown of the blood-aqueous barrier after vitrectomy. However, because the discoloration developed before surgery and was bilateral, long-term administration of amiodarone may also have played a role.- - - - - - - - - - ranking = 3.2064433726878keywords = sensitivity (Clic here for more details about this article) |
5/259. Progressive outer retinal necrosis syndrome as an early manifestation of human immunodeficiency virus infection.Progressive outer retinal necrosis syndrome is a recently recognized variant of necrotizing herpetic retinopathy, developing in patients with acquired immune deficiency syndrome (AIDS) or other conditions causing immune compromise. We report a case in which the diagnosis of retinal necrosis syndrome was made before the diagnosis of AIDS was confirmed. A 41-year-old man presented with a 1-month history of blurred vision in his left eye. Ophthalmologic examination revealed extensive retinal necrosis with total retinal detachment in his left eye and multifocal deep retinal lesions scattered in the posterior fundus as well as in the peripheral retina in his right eye. The serologic test for human immunodeficiency virus (hiv) was positive. Despite intravenous acyclovir treatment for 1 week, the lesions in the right eye showed rapid progression. High doses of intravitreal ganciclovir were then given in addition to intravenous acyclovir. After combined treatment for 1 month, the lesions became quiescent and the visual acuity improved to 20/30. Although the patient soon developed full-blown AIDS, the vision in his right eye remained undisturbed. physicians should suspect progressive outer retinal necrosis syndrome in any patient with rapidly progressive necrotizing retinopathy and test the patient for hiv infection. Aggressive combined antiviral agent therapy should be considered to save vision.- - - - - - - - - - ranking = 3.1940944687836keywords = visual (Clic here for more details about this article) |
6/259. Immune-mediated retinopathy in a patient with stiff-man syndrome.BACKGROUND: Stiff-man syndrome is a rare neurological disorder characterised by rigidity and violent spasms of the body musculature. In the majority of patients, presence of antibodies against glutamic acid decarboxylase (GAD), the enzyme synthesizing gamma-aminobutyric acid (GABA), suggests an autoimmune attack against GABA-ergic inhibitory neurons. We report a 32-year-old patient with stiff-man syndrome and anti-GAD antibodies who developed subacute progressive loss of vision in the right eye, and in the left eye 18 months thereafter. methods: Ophthalmological work-up included electro-retinogram (ERG), visual evoked potentials (VEP) and fluorescein angiography. Antiretinal antibodies were investigated using an indirect immunofluorescence technique on frozen sections of macaque retina with patients serum and FITC-conjugated goat antihuman immunoglobulin. Staining with monoclonal anti-GAD65 antibodies and with serum from three healthy normals served as controls. RESULTS: visual acuity of both eyes decreased to 0.16 within a span of 6 weeks. Perimetry revealed a central scotoma in the visual field of both eyes. VEP and flash ERG were progressively disturbed on the right eye. On the left eye, initially only pattern ERG and photopic responses were abnormal. Follow-up recordings revealed widespread pathology of photopic single and flicker responses. Immunofluorescence revealed strong reactivity of the inner plexiform layer and to a lesser extent staining of the outer plexiform layer at dilutions of 1:1000 with patients serum. The same retinal staining pattern was obtained with monoclonal anti-GAD65 antibodies. CONCLUSIONS: These findings suggest autoimmune retinopathy, mediated by anti-GAD65 autoantibodies as the underlying cause of visual loss.- - - - - - - - - - ranking = 9.5822834063507keywords = visual (Clic here for more details about this article) |
7/259. Progressive catatonia.We present the case of a young man with a diagnosis of a childhood-onset pervasive developmental disorder who developed a progressive neurologic deterioration with persistent catatonia and right hemiparesis. On his initial evaluation approximately three years after the onset of mutism, he manifested right hemiparesis and catalepsy. Two years later, although catalepsy had subsided, motor function had deteriorated so that he could not use his hands to feed or dress himself. Oral-facialbuccal dyskinesia manifested by blepharospasm and grimacing were present constantly during waking hours. Quantitative electroencephalography demonstrated markedly decreased amplitude, a finding associated with catatonia. Left sural nerve biopsy indicated large axon cylinder degeneration. Left deltoid biopsy demonstrated perimysial fibrosis and type II fiber predominance. Although magnetic resonance imaging of the head without contrast was normal, positron emission tomography indicated hypometabolism of the right cerebral and the right cerebellar hemispheres. The patient continues to deteriorate despite a course of 25 electroconvulsive treatments. He continues to manifest criteria for catatonia including motoric immobility, mutism, and peculiarities of voluntary movement such as prominent grimacing. We suspect an inherited neurodegenerative disorder. Since catatonia is a treatable condition frequently associated with medical and neurological diseases, examination for the features of catatonia must be included in the assessment of patients with progressive brain degeneration. This report is an attempt to clarify the traits of a serious variant of progressive brain degeneration.- - - - - - - - - - ranking = 1keywords = contrast (Clic here for more details about this article) |
8/259. MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency.MRI was performed in two siblings with the neuropathic sphingomyelinase deficiency caused by identical mixed heterozygosity in the structural acid sphingomyelinase gene. The clinical phenotype of the cases is unique in showing a rather protracted course, both having reached the fourth decade. Pronounced cerebellar and mild supratentorial atrophy was seen on MRI in both siblings, in contrast to their strikingly different clinical status. One has no overt neurological deficit, while the second had neocerebellar symptoms and signs, nystagmus and cranial nerve palsies for some years. The MRI findings, together with the cherry-red spot in the ocular fundus, ultrastructurally proved storage in cutaneous nerve schwann cells and the histopathologically proven brain neuronal storage in a third sibling who died after a relatively rapid course dominated by fatal visceral storage, is evidence that a remarkably restricted neuropathology can be caused by this enzymopathy.- - - - - - - - - - ranking = 1keywords = contrast (Clic here for more details about this article) |
9/259. Interictal change in cardiac autonomic function associated with EEG abnormalities and clinical symptoms: a longitudinal study following acute deterioration in two patients with temporal lobe epilepsy.The purpose of the present study was to investigate the ictal and interictal changes in cardiac autonomic function (CAF), and the relationship between the interictal change in CAF to the electroencephalogram (EEG) and clinical findings. In two patients with temporal lobe epilepsy (TLE) showing acute deterioration, a quantitative evaluation of their interictal CAF based on heart rate variability and their EEG using spectral analysis was conducted, and the findings compared with repeated clinical evaluations during the recovery period. The ictal heart rate changes and their temporal relationship to ictal discharge were investigated using simultaneous EEG/electrocardiogram (ECG) monitoring in one of the patients. Interictal parasympathetic function was decreased during the period of acute deterioration, but was increased in association with improvements in the EEG and clinical findings. In contrast, the sympathetic function showed no specific changes. The ictal discharges were preceded by a brief bradycardia, with a long delay of up to 40s. The results demonstrated that this decrease in parasympathetic function was closely related to the interictal changes in central nervous system function. On the other hand, the ictal discharges in one of the patients were thought to have caused a transient elevation of parasympathetic function. It is strongly suggested that patients with TLE have interictal as well as ictal changes in CAF that are mediated mainly through the parasympathetic nervous system.- - - - - - - - - - ranking = 1keywords = contrast (Clic here for more details about this article) |
10/259. Spontaneous disappearance of temporo-frontal arachnoid cyst in a child.We report a child with a large temporo-frontal arachnoid cyst which resolved spontaneously. There was no history of a head injury. The patient was a boy aged 1.6 years. Though a large head was pointed out ( 2SD), no therapeutic intervention was made because the relationship of the head circumference and the cyst was not established. No change in cyst size was visualized on the follow-up CTs at the age of 2.5 years and 6 years. At the age of 7 years, the arachnoid cyst had completely disappeared on CT. In order not to overlook a minute change in cyst size, the volumetry of the cyst and the intracranial cavity was performed, using the Photoshop, Macintosh. Both the cyst volume and the volume ratio of the cyst to the intracranial cavity slightly decreased and then increased. It is speculated that the cyst spontaneously ruptured by factors such as extreme breath holding and crying on the presence of the higher intracystic tension which might become a factor to accelerate spontaneous rupture of the cyst. Since a number of paediatric cases of symptomatic arachnoid cysts in need of surgical intervention has been larger than that of adult cases, we can speculate that a large arachnoid cyst might spontaneously resolve more frequently than we had expected. This case demonstrates that the surgical treatment of asymptomatic arachnoid cyst in the middle cranial fossa is not necessarily indicated in children.- - - - - - - - - - ranking = 3.1940944687836keywords = visual (Clic here for more details about this article) |
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