Cases reported "Vitamin B 6 Deficiency"

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1/8. Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures.

    An asphyxiated neonate with pyridoxine-dependent seizures and associated transient nonketotic hyperglycinemia is reported. Frequent seizures and their resultant hypoxic-ischemic insult may have led to the elevation of the cerebrospinal fluid glycine level in this patient. early diagnosis and treatment of pyridoxine-dependent seizures is essential for an improved neurologic outcome.
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keywords = seizure
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2/8. Neonatal pyridoxine responsive convulsions due to isoniazid therapy.

    A 17-day-old infant on isoniazid therapy 13 mg/kg daily from birth because of maternal tuberculosis was admitted after 4 days of clonic fits. No underlying infective or biochemical cause could be found. The fits ceased within 4 hours of administering intramuscular pyridoxine, suggesting an aetiology of pyridoxine deficiency secondary to isoniazid medication.
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ranking = 0.39311538594696
keywords = convulsion
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3/8. Pharmacorefractory status epilepticus due to low vitamin B6 levels during pregnancy.

    We report a patient with pyridoxine-dependent epileptic seizures during early childhood. She had been completely seizure free for 23 years until she became pregnant. During the week 14 of her pregnancy, status epilepticus developed and was refractory to antiepileptic drugs but responded to intravenous administration of vitamin B6. Vitamin B6 levels were found to be decreased during pregnancy, although the patient reported continued and regular oral supplementation. Possible reasons for decreased vitamin B6 levels leading to status epilepticus are discussed.
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ranking = 0.28571428571429
keywords = seizure
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4/8. pyridoxine-dependent seizures: magnetic resonance spectroscopy findings.

    pyridoxine-dependent seizures are an extremely rare genetic disorder. early diagnosis and treatment are important for the prevention of permanent brain damage. Elevated levels of glutamate and decreased levels of gamma-aminobutyric acid (GABA) in the frontal and parietal cortices are among the characteristic features of this disorder. These metabolic abnormalities eventually lead to seizures and neuronal loss. In this case report, we present magnetic resonance spectroscopy findings of a 9-year-old girl with pyridoxine-dependent seizures with mental retardation. The N-acetylaspartate-to-creatine ratio was found to be decreased in the frontal and parieto-occipital cortices, which could indicate neuronal loss. magnetic resonance spectroscopy could be a useful tool in the neuroimaging evaluation for assessment of parenchymal changes despite a normal-appearing brain magnetic resonance image in patients with pyridoxine-dependent seizures.
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ranking = 1.1428571428571
keywords = seizure
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5/8. Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy.

    pyridoxine-dependent epilepsy usually presents in the neonatal period or even in utero, is refractory to antiepileptic medications, and is treatable with lifelong administration of pyridoxine. The seizures are typically generalized tonic-clonic, although myoclonic seizures or infantile spasms have been described. We report an infant who presented at 5 months of age with a right-sided clonic seizure with fever. Subsequently, she had recurrent right focal or generalized seizures despite sequential treatment with various antiepileptic medications. At 7 months, she was hospitalized with status epilepticus, which was finally controlled with pyridoxine. After she became seizure free, she continued to have a strong left arm preference with mild weakness of the right arm and delayed language skill. Eventually, she outgrew these symptoms. This case illustrates that pyridoxine-dependent epilepsy, although rare, must be included in the differential diagnosis of focal seizures, especially when the seizures are refractory to traditional antiepileptic drugs.
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ranking = 1.0870514696474
keywords = seizure, epilepsy
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6/8. disulfiram-induced de novo seizures in the absence of ethanol challenge.

    The literature on disulfiram-associated seizures is reviewed. A case report of a disulfiram-induced de novo seizure in a 35-year-old man is presented. Possible mechanisms of seizure facilitation are discussed.
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keywords = seizure
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7/8. pyridoxine-dependent seizures.

    pyridoxine-dependent seizures occur as a result of an increased requirement of the vitamin within the central nervous system. With early intervention, these seizures can be completely controlled by continued administration of pharmacologic doses of the vitamin. Without prompt treatment, continued seizures and irreversible neurologic damage result. This disorder should be considered in any infant with seizures that are hard to control.
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ranking = 1.1428571428571
keywords = seizure
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8/8. Infantile convulsion suspected of pyridoxine responsive seizures.

    A 6-month-old boy, having suffered repeated convulsive siezures since birth, died of severe epilepsy, the disease remaining unknown. However, when a brother, born after the death of the present case, displayed the same clinical symptoms and was diagnosed clinically as having pyridoxine dependent convulsion, the deceased became suspected of having been a case of familial pyridoxine dependency. Pathologically, bilateral cerebellar hemorrhages were found accompanied by subdural and subarachnoidal hemorrhages. Histologically, neuronal loss and diffuse astrocyte hyperplasia were found in the brain: Beside marginal gliosis, proliferations of astroglia and glial fibers were found, especially in the pons, medulla oblongata, and cervical cord, although the fibrillary gliosis may be representative for a physiological intermediate state. Foamy cells were found in the lymph nodes, but not in the brain. Observed in the kidneys were substances deposited in the glomeruli and Bowman's capsules and materials in the tubular lumen.
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ranking = 1.0773313821368
keywords = seizure, convulsion, epilepsy
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