Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study aimed to assess the risks and benefits of the co-administration of lamotrigine and valproate in a pediatric population with refractory epilepsy. Twenty-eight children who received lamotrigine and valproate during co-medication were evaluated. Outcome measurements were established according to efficacy in seizure control, adverse effects, and tolerability. Treatment was considered effective when >50% frequency reduction was obtained. Adverse effects were also analyzed and in patients who presented them the mode of administration was compared with those who did not to verify the importance of this factor. Association of lamotrigine and valproate was considered effective in 64.3% of all patients, regardless of the seizure type. Seizure-free status was obtained in six patients. Drop attacks and secondary generalized tonic-clonic seizures were reduced in five patients, who remained under treatment despite less than the satisfactory (<50%) seizure decrease. Tremor occurred in six patients; urinary incontinence and ataxia in one. Skin rash also occurred, as an early manifestation, in two patients, both with a previous history of hypersensitivity to antiepileptic drugs. Causes for discontinuation were inefficacy of treatment in six patients and presence of adverse effects in two. In our series, seizure control was obtained in most children with refractory epilepsy, some of whom had a previous history of unsatisfactory response to lamotrigine and valproate, either in monotherapy or polytherapy. Adverse effects were uncommon, but skin rash was observed in higher proportions than in other series with lamotrigine or valproate. Nevertheless, these risks may be lessened with slow introduction and by exclusion of patients with a previous history of hypersensitivity.
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PMID:Lamotrigine and valproate: efficacy of co-administration in a pediatric population. 1287 97

Spastic paraparesis has been described in children with biotinidase deficiency and onset in later childhood and early adolescence. A 3-year-old male with biotinidase deficiency presented with rash, ataxia, and paraparesis and magnetic resonance imaging findings of myelopathy. Improvement occurred after treatment with biotin. Myelopathy should be added to the features that may be found on clinical examination and neuroimaging of children with biotinidase deficiency, regardless of age of presentation.
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PMID:Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. 1367 23

4-Hydroxyandrost-4-ene-3,17-dione (formestane) is a selective aromatase inhibitor. It is indicated for postmenopausal patients with advanced breast cancer. The aim of the present study was to investigate the effect of 4-hydroxyandrost-4-ene-3,17-dione on the bile secretion and metabolism of 4-(14)C-cholesterol to bile acid. The experiments were carried out in the ovariectomized and sham-operated female Wistar rats. Formestane (20 mg/kg, i.m., daily) was administered to animals for 2 weeks. Twenty four hours after the last drug administration, rats were anesthetized with ethyl urethane. 4-(14)C-cholesterol (740 kBq/kg, s.a. 2.28 GBq/mmol) was infused for 1 min by catheter inserted into the jugular vein. Bile samples were assayed for total 14C radioactivity 14C-bile acids were determined in bile (after thin-layer chromatographic separation) by the use of isotopic technique with liquid scintillator. Previous studies showed that systemic adverse effects occurred in about 12% of patients following intramuscular drug administration. Many of them such as hot flushes, vaginal spotting and emotional lability were related to the mechanism of action of formestane i.e. estrogen suppression. Lethargy, rash, nausea, dizziness, indigestion, ataxia, cramps and facial swelling have also been reported. The results of the present study have shown that formestane administered to the female ovariectomized rats decreased the bile secretion and diminished conversion of 4-(14)C-cholesterol to trihydroxy bile acids. The decreased synthesis of trihydroxy bile acids and increased concentrations of cholesterol and litocholic acid in bile may be associated with increased risk of gallstone formation.
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PMID:Effect of 4-hydroxyandrost-4-ene-3,17-dione (formestane) on the bile secretion and metabolism of 4-(14)C-cholesterol to bile acids. 1638 15

This single-center analysis evaluated the efficacy of oxcarbazepine monotherapy in children and adolescents. A retrospective chart review identified 60 patients (male=33, female=27) aged 6 months to 17.8 years (mean age 8.2+/-4.7 years) with partial onset epilepsy receiving oxcarbazepine monotherapy. The range of oxcarbazepine dose was 6-71 mg/kg/day (mean 26.3+/-11.4 mg/kg/day). The duration of therapy ranged from 3 months to 8 years (mean duration 16.7+/-14.3 months). Fifty-one patients (85%) achieved>or=50% reduction in seizure frequency, and 25 of 60 patients (42%) achieved seizure freedom. Ten patients (16.67%) reported adverse events including drowsiness, aggressive behavior, ataxia, dizziness, diplopia, and leg cramps. No hyponatremia or skin rash was observed. Twenty-four patients were switched from carbamazepine to oxcarbazepine monotherapy. In these patients carbamazepine was discontinued because of incidence of adverse events, poor seizure control, or both. Seventy-nine percent of patients switched from carbamazepine to oxcarbazepine monotherapy had >or=50% reduction in seizure frequency, and 37.5% became seizure-free. These findings suggest that oxcarbazepine monotherapy is effective and well tolerated in children and adolescents with partial epilepsy.
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PMID:Oxcarbazepine monotherapy in children and adolescents: a single-center clinical experience. 1699 94

Dermatitis herpetiformis and coeliac disease are gluten-sensitive diseases that share immunopathological mechanisms. Neurological disorders are reported in both diseases, being more frequent in coeliac disease. Dermatitis herpetiformis is rare in paediatric populations and only sporadic cases with neurological dysfunction are reported. Uncertainty exists as to whether early treatment may stop or reverse neurological symptoms. We describe here the case of a child presenting with a rash and ataxia, diagnosed with dermatitis herpetiformis, in whom neurological symptoms and signs regressed after treatment.
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PMID:Dermatitis herpetiformis presenting as ataxia in a child. 1734 26

Human herpesvirus-6 (HHV-6) infection is common in infancy, and symptoms are usually mild. However, encephalitis and other neurologic complications have been reported. Primary HHV-6 infection has been rarely confirmed in the central nervous system. We studied 21 children with suspected HHV-6 infection, drawn from a prospective, large-scale study of neurologic infections in Finland. Human herpesvirus-6 polymerase chain reaction was performed on cerebrospinal fluid samples, and antibody tests were performed on serum and cerebrospinal fluid. We identified nine children, aged 3 to 24 months, who had HHV-6-specific nucleic acid in cerebrospinal fluid. Primary infection was confirmed by seroconversion of specific antibodies in six, whereas one had a fourfold increase, and one had a fourfold decrease, in the antibody titer supporting recent infection. Generalized and prolonged seizures appeared in six children, four had a rash, four had ataxia, and four had gastroenteritis. All but two had a high fever. At follow-up, four children had evident neurologic sequelae, ataxia, and developmental disability, and needed special education. Primary HHV-6 infection may invade the central nervous system, and can cause neurologic symptoms and potentially permanent disability in children aged <or=2 years. The possibility of HHV-6 infection must be considered when treating acutely ill children, and especially those with convulsions.
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PMID:Primary human herpesvirus-6 infection in the central nervous system can cause severe disease. 1776 6

We present a case of a 4-year-old who presented to the emergency department with an unsteady gait for 2 days. Ataxia is a rare but known manifestation of cerebellar involvement in Lyme disease. A 4-year-old (17 kg) boy with no significant medical history presented to the emergency department (ED) with history of nonbloody emesis for 2 weeks and an unsteady gait for 2 days. Over the past 2 days, his gait had gotten progressively worse until he was unable to walk without assistance. The vomiting would usually occur 1 hour after eating meals. He had also complained of a single headache, which occurred approximately 10 days before admission. The headache did not occur in the early morning hours or wake him up from his sleep. His appetite for the weeks before admission had progressively decreased, and he had also become more irritable, especially when stimulated. He had increased fatigue for the week before presentation. His parents denied any fever, rhinorrhea, cough, diarrhea, rash, bruising, bleeding, or hematuria. The patient denied any abdominal pain or headache while in the ED.
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PMID:Acute ataxia in a 4-year-old boy: a case of Lyme disease neuroborreliosis. 1909 Dec 90

Opsoclonus myoclonus ataxia syndrome (OMAS) is a very infrequent paraneoplastic or postinfectious movement disorder, which may occur at any age, most commonly between 6 and 36 months of age. In four days, a previously healthy 30-month-old girl progressively developed gait instability, intention tremor, dysarthric speech, irritability and altered sleep. Physical and neurological examination did not reveal additional deficits. She had had a transient exanthema without fever three weeks before. Basic blood analysis, serologies, cultures, urine toxin detection, EEG and cerebral CT were normal. Lumbar puncture showed minimal lymphocytosis. On the fifth day following the onset of symptoms, the ataxia worsened, precluding sitting, and the tremor was aggravated by intentional myoclonus. Chaotic saccadic, large amplitude multidirectional but conjugated eye movements appeared. An opsoclonus was suspected and a chest X-ray and CT revealed a paravertebral thoracic mass. Surgery confirmed a localized ganglioneuroblastoma. Blood neuron-specific enolase and urine catecholamine levels were normal. Opsoclonus disappeared with high doses of prednisone and following surgery. Ataxia improved but the patient still required low daily doses of steroids for one year.
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PMID:[Paraneoplastic opsoclonus myoclonus ataxia syndrome]. 1943 May 15

Cerebellitis associated with herpes zoster has rarely been observed. We report here a 76-year-old man who had a history of anterior resection for sigmoid colon cancer and presented during chemotherapy with vesicular rash of the left ear, neuralgic pain in the postauricular area, and ataxic gait. After a while, he developed left peripheral facial palsy, fever, aggravated gait ataxia, and prolonged nausea and vomiting. The left facial nerve was enhanced on gadolinium-enhanced brain magnetic resonance imaging. We suspected that the patient had Ramsay Hunt syndrome accompanied by cerebellitis, which has not been reported previously. Over the course of several months, during which he was treated with acyclovir and corticosteroid, his symptoms improved significantly.
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PMID:A case of ramsay hunt syndrome complicated by cerebellitis. 2039 7

Hartnup disorder is caused by an inborn error of neutral amino acid transport in the kidneys and intestines. It is characterized by pellagra-like rash, ataxia, and psychotic behavior. Elevated urinary neutral amino acids are the first indicator of the disorder. SLC6A19 was identified as the causative gene in autosomal-recessive Hartnup disorder, which encodes the amino acid transporter B(0)AT1, mediating neutral amino acid transport from the luminal compartment to the intracellular space. Here, we report on a Korean boy aged 8 years and 5 months with Hartnup disorder, as confirmed by SLC6A19 gene analysis. He manifested seizures, attention-deficit hyperactivity disorder, and mental retardation without pellagra or ataxia. Multiple neutral amino acids were increased in his urine, and genetic analysis of SLC6A19 revealed compound heterozygous mutations, c.908C>T (p.Ser303Leu) and c.1787_1788insG (p.Thr596fsX73), both of which are novel. A novel SLC6A19 gene mutation was associated with late-onset seizures in a Korean patient with Hartnup disorder.
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PMID:Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. 2039 95


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