Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Central nervous system is rarely involved in progressive systemic sclerosis (PSS) unless there are concomitant abnormalities in renal or lung function or hypertension. A 72-year-old woman with typical PSS developed cerebellar bleeding. Medical history records revealed, she had noted the onset of Raynaud's sign on her upper extremities at the age of 37. This was followed by necrosis and repeated infection, and as a result, shortening of her fingers in her 40's. The disease progressed and involved lower extremities, and then face and body in her 50's. Aortic valve stenosis was diagnosed at 69 year old, cardiac myopathy at 70 and at the age of 71 infectious dermatitis in both inguinal regions. Mild anemia, hypoalbuminemia and the decrease of serum Fe were discovered in June 1988. At the same time, prolonged ESR, positive C-reactive protein, RA, and anti-nuclear-antibody were also noticed. A chest roentgenogram revealed pulmonary fibrosis. Systemic hypertension was not noticed on the clinical course. She developed an onset of vertigo and vomiting in the morning of August 8, 1988. Consequently, she was brought to our hospital. She was alert but a physical examination showed a swallowing disturbance, dysarthria, right cerebellar ataxia, nystagmus and hypertension (192/100 mmHg). A CT examination on admission revealed a slightly low density area in right cerebellar hemisphere without mass effect. She was treated with dextran and mannitol and her condition improved on the 6th day of her admission. She was alert and blood pressure calm down to 120/70 mmHg without the use of anti-hypertension drugs on August 21.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of progressive systemic sclerosis associated with a hemorrhagic infarction of the cerebellum]. 235 21

We present here an early-onset case of multiple sclerosis (MS) with thalamic lesions. The patient first experienced an episode of ataxic gait at 2 years 3 months of age, with spontaneous remission within 1 month. At 5 years 4 months, she was admitted because of cerebellar ataxia, oculomotor restriction and feeding difficulty. Magnetic resonance imaging (MRI) showed multiple well-defined lesions in the white matter of the cerebellum, mid-brain, periventricle and right frontal lobe. Cerebrospinal fluid (CSF) showed a mild elevation of both immunoglobulin G (IgG) and myelin basic protein (MBP). Serum anti-myelin antibody was also positive, although leukocytosis and elevation of C-reactive protein were not found. Methylprednisolone pulse therapy relieved symptoms within 2 weeks and the abnormal MRI and CSF findings gradually improved. At 6 years 6 months of age, she incurred a third episode of cerebellar ataxia and disturbance of consciousness. Magnetic resonance imaging revealed recurrence and extension of the previous lesions as well as new lesions in the thalamus and internal capsule. CSF IgG and MBP level showed a higher elevation than in the second episode. The combination of the cerebellar, brain-stem, cerebral and thalamic lesions with remission and exacerbation, supported by MRI and CSF findings, allowed the diagnosis of clinically definite MS to be made. This is one of the youngest cases of MS yet described, with the first attack occurring at 27 months of age. In addition, this case is unique for the involvement of the gray matter in the thalamus.
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PMID:An early-onset case of multiple sclerosis with thalamic lesions on MRI. 794 11

A 71-year-old woman was admitted to our hospital with asthenia, weight loss, fever, cognitive impairment and shortness of breath. Physical examination showed hemiparesis and cerebellar ataxia. There was no superficial lymphadenopathy. Blood tests showed raised levels of C-reactive protein and lactate dehydrogenase. Bone marrow aspiration and biopsy were negative. [18F]fluorodeoxyglucose (FDG)-positron emission tomography (PET)/computed tomography (CT) showed intense uptake within a right apical nodule and intense and diffuse uptake of FDG in the lungs without corresponding structural CT abnormality. Lung biopsy showed intravascular large B-cell lymphoma (IVLBCL). FDG-PET findings in IVLBCL and causes of diffuse FDG lung uptake with and without CT abnormalities are discussed.
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PMID:Diffuse pulmonary uptake on FDG-PET with normal CT diagnosed as intravascular large B-cell lymphoma: a case report and a discussion of the causes of diffuse FDG uptake in the lungs. 2227 25

We describe the case of a 14-year-old Caucasian male, a resident in the Democratic Republic of the Congo, who was observed in Portugal with severe Plasmodium falciparum malaria with high-level parasitemia and severe thrombocytopenia. The course was complicated by bilateral sixth cranial nerve palsy during acute malaria, followed by the appearance of delayed cerebellar ataxia during the recovery phase. This occurred after successful treatment with quinine plus doxycycline over seven days. Different levels of thrombocytopenia and C-reactive protein were observed during both neurologic events in the presence of HRP-2 positive tests for Plasmodium falciparum antigen. The patient recovered completely after three months.
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PMID:Plasmodium falciparum malaria, bilateral sixth cranial nerve palsy and delayed cerebellar ataxia. 2242 13

Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ocular motor apraxia type 1 (AOA1) is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia. Here we describe two siblings (13- and 10-year-old) display overlapping clinical features of both early-onset FRDA and AOA1. Almost all of laboratory test (including urinary analysis/culture, biochemistry, peripheral blood smear, C-reactive protein level, erythrocyte sedimentation rate-1h) results were within the normal range for both patients. Due to the normal laboratory test results; we concluded that the diagnosis was more likely to be FRDA than AOA1. Therefore, neurologists should bear in mind that clinical presentations of FRDA may vary widely from the classical phenotype of gait and limb ataxia to atypical manifestations such as oculomotor apraxia.
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PMID:Early-Onset Friedreich's Ataxia With Oculomotor Apraxia. 2828 10