Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Eighteen children with West syndrome (5-11 months of age) were selected to receive an oral dose of pyridoxal phosphate, (20-50 mg/kg) for 14 d. Seizures disappeared in one patient. The remaining 17 patients were treated with 0.01 mg/kg synthesized corticotropin intramuscularly for 2 weeks as an additional therapy. Seizures disappeared in all 17 patients within a few days after initiation of the corticotropin. Levels of somatostatin in the cerebrospinal fluid were as follows: 61.0+/-10.7 pg/ml before therapy, 34.2+/-6.4 pg/ml during pyridoxal phosphate therapy, and 26.8+/-4.2 pg/ml after 2 weeks corticotropin therapy. Somatostatin levels in untreated patients were higher (p < 0.05) than those of age-matched controls (35.7+/-11.8 pg/ml) and decreased (p < 0.05) after pyridoxal phosphate treatment. Somatostatin is a hypothalamic tetradecapeptide with excitatory effects on neurons and pyridoxal phosphate might subclinically influence neuronal excitation.
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PMID:Cerebrospinal fluid somatostatin in West syndrome: changes in response to combined treatment with high-dose pyridoxal phosphate and low-dose corticotropin. 992 Apr 58

The case of a 5-month-old boy with tuberous sclerosis and West syndrome is reported. Tonic spasms were noted from the age of 4 months. High-dose pyridoxal phosphate could not control the seizures completely. Very short and low-dose adrenocorticotropic hormone (ACTH) therapy (i.e. 0.011 mg/kg per dose, 12 times in 20 days) controlled the seizures, while pyridoxal phosphate was on. Early tapering of ACTH was successfully done while abnormal electroencephalogram (EEG) findings remained. Although side effects such as hypertension and brain shrinkage were transiently observed, both the cognitive and seizure prognoses were excellent at the age of 3 years and 2 months. The good response to a small dosage of ACTH might be due to some responsiveness of the high-dose pyridoxal phosphate and the underlying cause of tuberous sclerosis with normal development before onset. The present case illustrates that the duration and dosage of ACTH therapy in West syndrome should be modified according to the individual's requirements.
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PMID:A case of West syndrome well controlled by very short and low-dose ACTH therapy. 1020 Dec 87

Isoniazid-induced seizures respond poorly to anticonvulsants but well to pyridoxine (Vitamin B6); theophylline produces difficult-to-treat seizures with substantial morbidity and mortality. Theophylline therapy depresses plasma pyridoxal-5'-phosphate (PLP), the active metabolite of pyridoxine, suggesting that theophylline-induced seizures might be amenable to treatment with pyridoxine. Our study established the dose-response relationship for convulsions due to isoniazid and theophylline in mice and determined if pyridoxine antagonized such seizures. Female CD-1 outbred mice weighing 25 to 30 g were used. Clonic seizures had clonic activity lasting 5 sec; tonic seizures had loss of the righting reflex with tonic hindlimb extension. Groups of 10 mice received single doses of 50, 100, 150, 200, 250 or 300 mg aminophylline/kg i.p. or 100, 150, 200, 250, 300 or 350 mg isoniazid/kg i.p. and were observed for seizures or death. Pyridoxine or saline with aminophylline or isoniazid were administered simultaneously. The LD50 for aminophylline was 266 mg/kg; for isoniazid it was 160 mg/kg. Doses of 150 mg aminophylline/kg or 100 mg isoniazid/kg did not induce seizures. Pyridoxine with aminophylline or isoniazid did not alter the frequency or time of onset of seizures or death. This was unexpected because pyridoxine antagonizes theophylline-induced seizures in mice and reverses isoniazid-induced seizures in humans. We found no evidence that PLP depletion in mice is a mechanism for seizures induced by isoniazid or aminophylline in a fashion similar to isoniazid in humans.
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PMID:Seizures induced by theophylline and isoniazid in mice. 1050 46

The efficacy of zonisamide (ZNS) was studied in 16 patients (11 males, 5 females) with West syndrome (WS), symptomatic in 13 and cryptogenic in 3. They did not respond to pyridoxal phosphate (12 cases) or valproate (16 cases). The mean age of onset of WS was 4.4 (2-9) months. ZNS was administered from 3 to 9 months of age (mean 6.1). Four cases (2 cryptogenic and 2 symptomatic) became seizure free. Two had more than 50% seizure reduction. Ten infants remained unchanged or showed less than 50% seizure reduction. In the 4 responders, the effective dose was 4-8 mg/kg (mean 5.8), and the serum ZNS concentration was 10-21 micrograms/ml (mean 13.8). One had relapse of WS after 4 months. Three with normalized EEG remained seizure-free during the follow-up period (12-26 months). One case developed a transient drowsiness, but no serious side effects were observed. These data suggest ZNS may be regarded as a therapy of choice before synthesized ACTH therapy in the management of WS.
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PMID:[Efficacy of zonisamide in West syndrome]. 1035 67

We report on a patient with early-onset spasms in series and partial seizures associated with focal cortical dysplasia whose EEGs showed suppression-burst patterns during early infancy. These electroclinical characteristics suggested a diagnosis of Ohtahara syndrome, but the EEG findings were atypical because of the lack of suppression-burst patterns during wakefulness. In addition, the patient did not have severe psychomotor retardation. With high-dose pyridoxal phosphate therapy, seizures were suppressed and suppression-burst patterns disappeared at 2 months of age. Focal motor seizures recurred later and they often evolved into epilepsia partialis continua. Patients with early-onset intractable seizures associated with suppression-burst patterns on EEGs have several different etiologies, and these patients should be categorized according to their etiology in addition to their syndromic diagnosis.
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PMID:Suppression-burst patterns in intractable epilepsy with focal cortical dysplasia. 1072 68

Hydrocephalus occasionally causes West syndrome, but the mechanism is unknown. We experienced a case with West syndrome and congenital hydrocephaly, in which the EEG findings improved after the resolution of shunt complications. The course of this case implied the pathogenesis of West syndrome associated with congenital hydrocephaly, as well as the origin of the seizures and that of the EEG findings in West syndrome. A 7-month-old girl had congenital hydrocephaly. A prenatal diagnosis was made by ultrasonography, and ventricle-peritoneal shunting was performed 7 days after birth. During the following 7 months several shunt replacements were done because of recurrent shunt complications. Her first series of infantile spasms began at the age of 6 months, and treatment was started under the diagnosis of West syndrome. One month later, her seizures were controlled by pyridoxal phosphate, while the EEG still showed hypsarrythmia. Her shunt was then removed again, because of bacterial meningitis due to shunt infection. The recovery from shunt complication resulted in marked improvement of the hypsarrhythmia. Our experience and previous literature suggest the involvement of cerebral cortex in the occurrence of West syndrome associated with congenital hydrocephaly.
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PMID:[A case with congenital hydrocephaly and west syndrome who recovered from hypsarrhythmia after the resolution of shunt trouble]. 1091 75

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by generalized seizures in the first hours of life and responding only to pyridoxine hydrochloride. The pathogenesis of PDE is unknown, but an alteration in the binding of pyridoxal 5-phosphate to glutamic acid decarboxylase (GAD) has been postulated in patients with PDE. Results are reported for genetic linkage analyses in four families with consanguineous parents and in one family with nonconsanguineous parents. The GAD1 (2q31) and GAD2 genes (10p23) were tested and excluded. A genomewide search was subsequently performed, using microsatellite markers at an average distance of 10 cM, and the search revealed linkage of the disease-causing gene to markers on chromosome 5q31.2-q31.3 (maximum LOD score [Z(max)] 8.43 at recombination fraction [theta] 0 and Zmax=7.58 at straight theta=0 at loci D5S2017 and D5S1972, respectively). A recombination event, between loci D5S638 and D5S463, in one family defined the distal boundary, and a second recombination event between loci D5S2011 and D5S2017 in another family defined the proximal boundary of the genetic interval encompassing the PDE gene (5.1 cM). Ongoing studies may lead to the identification of the disease-causing gene.
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PMID:A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. 1097 28

We performed a clinical and electroencephalographic follow-up study on 25 patients with West syndrome that was responsive to vitamin B(6) (eight cryptogenic patients and 17 symptomatic patients) who were older than 3 years at the last follow-up. All cryptogenic patients and 13 symptomatic patients were seizure free at the last follow-up. All cryptogenic patients and seven symptomatic patients had intelligent quotient or developmental quotient scores of 75 or higher. The recurrence of clinical seizures was always associated with increases in epileptic discharges. We could successfully discontinue pyridoxal phosphate administration in four cryptogenic and four symptomatic patients who were 1 year, 8 months to 24 years old.
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PMID:Long-term follow-up of vitamin B(6)-responsive West syndrome. 1103 81

We previously identified vitamin B6 deficiency in a child presenting with seizures whose primary diagnosis was the inherited disorder hyperprolinemia type II. This is an unrecognized association, which was not explained by diet or medication. We hypothesized that pyridoxal phosphate (vitamin B6 coenzyme) was de-activated by L-Delta(1)-pyrroline-5-carboxylic acid, the major intermediate that accumulates endogenously in hyperprolinemia type II. The proposed interaction has now been investigated in vitro with high resolution 1H nuclear magnetic resonance spectroscopy and mass spectrometry at a pH of 7.4 and temperature of 310 K. Three novel adducts were identified. These were the result of a Claisen condensation (or Knoevenagel type of reaction) of the activated C-4 carbon of the pyrroline ring with the aldehyde carbon of pyridoxal phosphate. The structures of the adducts were confirmed by a combination of high performance liquid chromatography, nuclear magnetic resonance, and mass spectrometry. This interaction has not been reported before. From preliminary observations, pyrroline-5-carboxylic acid also condenses with other aromatic and aliphatic aldehydes and ketones, and this may be a previously unsuspected generic addition reaction. Pyrroline-5-carboxylic acid is thus found to be a unique endogenous vitamin antagonist. Vitamin B6 de-activation may contribute to seizures in hyperprolinemia type II, which are so far unexplained, but they may be preventable with long term vitamin B6 supplementation.
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PMID:Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. 1113 58

A 2-year-old girl presented with vomiting and diarrhea 7 hours after eating a large quantity of ginkgo seeds. She exhibited an afebrile convulsion 9 hours after ingestion. The serum concentration of 4-metoxypyridoxine was as high as 360 ng/mL. Although reported cases of ginkgo seed poisoning usually involve children who exhibit repetitive seizures that can be fatal, prompt administration of pyridoxal phosphate (2 mg/kg) may have prevented additional seizures. This is the first English-language case report measuring 4-metoxypyridoxine concentration during ginkgo seed poisoning. Awareness of the potential danger of overconsumption of this traditional food and its prompt treatment with pyridoxal phosphate may hasten recovery.
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PMID:Ginkgo seed poisoning. 1182 16


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