Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three cases (case 1, female, aged 30; case 2, male, aged 32; case 3, male, aged 34) of benign brainstem encephalopathy with truncal ataxia were reported. Two patients had prodromal symptoms Neurological examination revealed truncal ataxia in all cases. As additional neurological signs, anisocoria, mydriasis, nystagmus, ptosis, transient opsoclonus, and facial palsy were seen. There was neither drowsiness nor myoclonus in the three cases. On laboratory examinations, cold agglutination test revealed significant elevation in two cases. The examination of cerebrospinal fluid showed a moderate rise of proteins in one case, but did not revealed pleocytosis in any of the cases. Magnetic resonance imaging of one patient revealed an area of high intensity in the left pontine tegmentum by T2-weighed imaging. The prognosis for all these cases was good, and the reappearance of neurological signs was not present until now. Our cases were different from brainstem encephalitis (Bickerstaff's encephalitis) because of an absence of disturbed consciousness and no pleocytosis in the cerebrospinal fluid. Our cases were also different from "myoclonus-opsoclonus syndrome" because of an absence of myoclonus. We discussed a possibility of a new clinical syndrome which we call "benign brainstem encephalopathy with truncal ataxia".
 ...
PMID:[Benign brainstem encephalopathy with truncal ataxia--a clinical study of 3 cases]. 128 89

We describe 3 children with a progressive encephalopathy that was characterised by irritability, convulsions, cranial nerve palsies, ataxia, nystagmus, walking difficulties, delayed psychomotor development, hemiplegia/tetraplegia, visual disturbance, vomiting, neck stiffness, and non-specific signs of raised intracranial pressure. A final diagnosis was made in all 3 patients from necropsy material. The clinical features were ascribed to multiple inflammatory, predominantly lymphocytic, reactions and raised intracranial pressure. This condition is an atypical form of haemophagocytic lymphohistiocytosis, which normally presents with fever, hepatosplenomegaly, and cytopenias. By contrast, the disease pattern in our 3 children was dominated by cerebromeningeal involvement, which can precede the typical systemic symptoms of haemophagocytic lymphohistiocytosis. An awareness of this condition is important because treatments are available.
 ...
PMID:Cerebromeningeal haemophagocytic lymphohistiocytosis. 134 23

We reviewed clinical findings and serologic data on 18 men and three women with paraneoplastic cerebellar degeneration (PCD) associated with Hodgkin's disease (HD). The patients were 20 to 77 years old (median, 44). The lymphoma preceded neurologic symptoms by 1 to 54 months in 17/21 patients, but stage or activity did not correlate with severity of neurologic disease; six developed PCD while in HD remission. PCD evolved subacutely (over weeks to months) and was pancerebellar in most. Ten had downbeat nystagmus. Thirteen stabilized in a disabled state (wheelchair- or bed-bound), five stabilized ambulatory, and three, who had progressed to a nonambulatory state, recovered. The clinical findings were usually only cerebellar but one patient had an encephalopathy, three long-tract signs, and two sensory neuropathy. Plasmapheresis (seven patients) and corticosteroids or other immunosuppressant medication (eight patients) did not help; one improved dramatically after treatment with clonazepam. Two patients improved spontaneously. Six patients had serum antibodies that reacted specifically with Purkinje cells. The pattern was distinct from that of PCD with gynecologic cancer (anti-Yo) or small-cell lung cancer (anti-Hu). Western blotting failed to identify a discrete Purkinje cell antigen. Seropositive patients did not differ clinically from their seronegative counterparts. HD-associated PCD is more common in men and in a younger age group than in PCD with other malignancies.
 ...
PMID:Paraneoplastic cerebellar degeneration. II. Clinical and immunologic findings in 21 patients with Hodgkin's disease. 140 76

In the group of 37 patients with chronic carbon disulphide (CS2) intoxication manifested by encephalopathy, polyneuropathy or psycho-organic syndrome and complaining for vertigo, a statokinesiometric test was performed with open and closed eyes, and with visual stimulation. Basic test parameters of stabilograms and statokinesiograms were compared with standard values of the control group. Results of the test were additionally verified by electronystagmography with the recording of spontaneous, positional, optokinetic and post-rotatory nystagmus as well as the eye-tracking test. The statokinesiometry revealed postural stability disorder in 72.9% of patients. Balance disorders detected by means of this test showed high compatibility with results of electronystagmography which confirmed damage of the central part of vestibular system due to CS2 intoxication.
 ...
PMID:The statokinesiometry in evaluation of the balance system in persons with chronic carbon disulphide intoxication. 149 Jan 26

Since the initial report of Beyers & Moll (1948), numerous cases of seizures and encephalopathy after pertussis immunization or DPT immunization have been reported. However, acute cerebellar ataxia and/or facial palsy after DPT immunization is unusual, although there have been several reports from Japan. We report a 1-year-11-month-old girl with acute cerebellar ataxia and facial palsy after DPT immunization. On admission, she was alert. She was active and had a 6-day history of an ataxic gait and asymmetric facial movement which had begun 5 hours after DPT immunization. Neurological examination revealed an ataxic gait, horizontal nystagmus and right facial palsy. A CT scan showed low density on the right side of the pons with marked contrast enhancement. A MRI scan indicated the involvement of not only the right side of the pons, but also of the bilateral cerebellar peduncles. The child did well subsequently and was neurologically normal 20 days after the initial symptoms. To our knowledge, the present case is probably the first reported one of acute cerebellar ataxia after DPT immunization with CT and/or MRI correlation.
 ...
PMID:[Acute cerebellar ataxia and facial palsy after DPT immunization]. 280 99

A 67-year-old, non-alcoholic Japanese female case with liver cirrhosis, in the course of admission due to ascites and rupture of the rectal varix, was affected by an unusual type of acute progressive encephalopathy, presenting inattentiveness and slurred speech as initial symptoms. Her consciousness was increasingly clouded. Variable symptoms such as saccadic eye movement, nystagmus, weakness, hyperreflexia, dysmetria, adiadochokinesis and painful dysesthesia were also noted. Laboratory examination disclosed abnormal liver functions, hyponatremia, respiratory alkalosis and normal blood ammonia. Cerebrospinal fluid was xanthochromic and contained slightly increased protein. On CT scan, bilateral symmetrical low density areas were demonstrated in the diencephalon, brainstem and cerebellum. A week after the onset, she was comatose with rigidity of the extremities. Hyperbilirubinemia and severe hyponatremia developed. On the second CT, low density areas extended to the cerebral deep white matter. Her respiration became irregular, and she expired 16 days after the onset. Autopsy disclosed edematous lesions with dark brown discoloration in the medial basal ganglia, ventral diencephalon and mesencephalic tegmentum. Less severely affected lesions with pale yellow discoloration extended into the cerebral white matter, pontine and medullar tegmentum and cerebellar dentate nuclei. In the central lesions, diapedesis of erythrocytes and serum-plasma was marked, with necrosis of the neurons. In the peripheral lesions, diapedesis of less proteinaceous fluid was noted, with less severe neuronal damages. Neither capillary prominence nor gliosis was remarkable. The clinical and pathological features of the present case bore some similarity to those of Wernicke's and Leigh's encephalopathies. However, the patient's age, habitus or clinical course was atypical for the latter.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Acute encephalopathy with symmetrical, widespread, edematous and necrotic lesions--an autopsy case report]. 280 34

Two cases of phenytoin toxicity in patients with chronic liver disease who were taking 300 mg phenytoin daily are described. Each patient developed encephalopathy, characterized by confusion, disturbed conscious state, asterixis, and nystagmus, which was resistant to treatment with protein restriction, lactulose, and neomycin, but responsive to withdrawal of phenytoin. We suggest that the phenytoin did not precipitate hepatic encephalopathy, but caused an encephalopathy that mimicked it. We recommend that phenytoin be used cautiously in patients with liver disease, and that the drug's unbound serum level be measured if encephalopathy occurs.
 ...
PMID:Phenytoin toxicity and hepatic encephalopathy: simulation or stimulation? 361 89

Pelizaeus-Merzbacher's disease is a progressive encephalopathy with demyelination of the cerebral white matter. The diagnosis can not be made on clinical or biological grounds: pathological investigation is necessary to confirm tigroid demyelination. CT scanning failed to visualize this type of anomaly but detection is now possible with the advent of magnetic resonance imaging (MRI). The authors studied the case of a boy who, at the age of 8 presented with symptoms characteristic of the disease: rotatory nystagmus, progressive encephalopathy, and inherited X-linked recessive traits. Magnetic resonance imaging revealed a high signal in the supra- tentorial white matter and the usual contrast was inverted. The authors believe that MRI can make an important contribution to the diagnosis of the disease.
 ...
PMID:Magnetic resonance imaging in Pelizaeus-Merzbacher disease. 362 26

This review is based on the clinical experience with 7 patients and a total of 171 additional cases described in literature. Clinical features are presented of this "benign" cerebellar encephalopathy, which occurs preferably in association with viral infections, neuroblastomas or rarely carcinomas. Numerous descriptions of single cases stress a heterogeneous variety of other diseases which possibly may cause this syndrome. Special emphasis is put on the electronystagmographic documentation of eye movements with follow up of the spontaneous recovery over several years. The eye movement characteristics of opsoclonus allow for a clear differentiation from other forms of acquired ocular oscillations, such as ocular flutter, ocular dysmetria, square wave jerks, macro-saccadicoscillations, lightning eye movements, pendular nystagmus, obliquus superior myokymia and voluntary nystagmus. Differential diagnosis of the underlying diseases is particularly dependent on the age of onset. Histopathological findings as well as the hitherto suggested immunologic pathogenesis, therapeutic regimen and the prognosis are discussed critically on the basis of the literature.
 ...
PMID:[Opsoclonus and myoclonus syndrome. Clinical and electronystagmography findings with course studies]. 397 42

A 55-year-old man with a subacute onset of slurred speech, ataxia, nystagmus, extrapyramidal rigidity, decreased tendon reflexes, vomiting, bilateral optic atrophy, and clonic jerks died of bronchopneumonia and respiratory failure. Neuropathological examination showed lesions characteristic of subacute necrotizing encephalopathy. Clinicopathological observations of reported cases of Leigh's syndrome in the adult are reviewed.
 ...
PMID:Leigh's syndrome in an adult. 652 Jun 17


1 2 3 4 5 6 7 Next >>