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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several non-epileptic disorders may cause episodic and paroxysmal symptoms that resemble epilepsy and they must be considered in the differential diagnosis. Some of these disorders are discussed in the present review: vasovagal, vasomotor and cardiac syncopes, breath holding spells. Among the sleep disorders, parasomnias, nightmares and the benign neonatal sleep myoclonus are mentioned. Migraine with aura, alternating hemiplegia and benign vertigo of childhood are probably related disorders. Benign myoclonus of early infancy, paroxysmal choreoathetoses and pseudoepileptic or hysterical seizures are further non-epileptic attack disorders to be considered in the differential diagnosis.
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PMID:[Differential diagnosis of cerebral seizures]. 150 11

We investigated both blood and cerebrospinal fluid (CSF) lactate and pyruvate levels in seven girls with the Rett syndrome (RS) and evaluated the relationship between CSF lactate and pyruvate levels and the clinical manifestations, particularly seizures, anticonvulsant medication, and breathing dysfunction including breath holding, apnea and hyperventilation. Elevated lactate and pyruvate levels in CSF with normal serum lactate were found in two RS patients. Elevated CSF lactate correlated significantly with the clinical occurrence of hyperventilation (P0 = 0.048, Fisher exact probability). We measured native and dichloroacetate (DCA)-activated pyruvate dehydrogenase (PDH) complex activities in two patients (#1 and 2) using cultured lymphoblastoid cell lines which were transformed by EB virus and the results were normal. We also analyzed CSF citric acid intermediates from 7 RS patients including citric acid, cis-aconitate, alpha-ketoglutarate, succinate, fumarate, malate and oxaloacetate. These concentrations were not significantly different from those control patients (N = 21). An elevated lactate level may be a clue to clarify the etiology of RS.
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PMID:The Rett syndrome and CSF lactic acid patterns. 159 May 31

In 80 children the clinical features of sudden changes of consciousness, motor activity and/or behavior were studied retrospectively. Epileptic and non-epileptic seizures could not be separated because of specific clinical characteristics in this population, although breath holding spells have some rather distinguishing features. The greatest problem was the lack of detailed clinical information in many cases. A group of children remains with paroxysmal events of unknown origin, but from this material the prognosis of them seems to be good. The clinician should be able to differentiate epileptic from non-epileptic seizures by taking a careful history based upon a detailed knowledge of the different kinds of both epileptic and non-epileptic attacks.
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PMID:[Minor seizures in young children: epileptic or not?]. 224 79

Distinguishing epileptic events from nonepileptic paroxysmal neurologic events represents a common diagnostic challenge. Syncope, either cardiac or noncardiac, can appear similar to atonic and even convulsive seizures. Breath holding and benign paroxysmal vertigo in children may be confused with epilepsy. Classic migraine, transient global amnesia, and transient ischemic attacks may resemble epileptic seizures. Sleep disorders, including nocturnal movements, parasomnias, and narcolepsy also may resemble epileptic seizures. Most movement disorders are distinguished easily from epilepsy; however, paroxysmal dyskinesias may resemble atonic or reflex seizures. The correct diagnosis can be established and appropriate treatment can be instituted by relying on routine and prolonged EEG, EKG, and sleep studies, when appropriate.
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PMID:Differential diagnosis of seizures. 827 29

Epileptic seizures are reported to occur frequently in Rett syndrome (RS). We evaluated the hypothesis that many events classified as seizures in RS represent other paroxysmal, non-epileptic events; thus, the overall incidence of seizures in RS is overestimated. We conducted video/polygraphic/EEG monitoring sessions (8-120 h duration) in 82 RS females (ages 2-30 years). Fifty-five patients (67%) had a history of seizures and 43 (52%) were receiving anticonvulsants. All had abnormal EEGs. These abnormalities included epileptiform findings, the frequency of which ranged from 60% of patients in clinical stage IV to 97% of patients in clinical stage III. During monitoring, electrographic seizures were recorded in only 13 patients (16%) and included both partial and generalized events. Clinical events correlating with EEG seizure discharges were identified by parents during only 5 of these recordings. The parents of 23 (42%) of the 55 patients with a history of seizures identified events during monitoring that they felt were representative of the child's typical 'seizures', but which were not associated with EEG seizure discharges. These 'non-seizure' events included episodes of motor activity, such as twitching, jerking, head turning, falling forward, and trembling, as well as episodes of staring, laughing, pupil dilatation, breath holding and hyperventilation. These studies confirm that the occurrence of epileptic seizures is overestimated in RS, and further suggest that actual seizures may be under-recognized. Video/EEG monitoring can provide definitive information regarding the need for anticonvulsant therapy in RS.
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PMID:Rett syndrome: characterization of seizures versus non-seizures. 968 Jan 67

Pyridoxine (vitamin B6) (2q31) dependency is a rare autosomal-recessive disorder that causes a severe seizure disorder of prenatal or neonatal onset. The abnormality appears to inhibit the binding of vitamin B6 to the enzyme glutamic acid decarboxylase-1, which is needed for the biosynthesis of gamma-aminobutyric acid (GABA). Most patients with pyridoxine-dependent seizures require lifelong treatment with pyridoxine. The full range of associated symptomatology is unknown since fewer than 100 cases have been reported. A majority of cases are mentally retarded. We report a 15-year-old boy with pyridoxine-dependent seizures, nonpyridoxine-dependent seizures, severe mental retardation, autistic disorder, aerophagia, breath holding, and self-injury. This complex outcome should alert clinicians to the wide range of neuropsychiatric outcomes associated with this disorder.
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PMID:A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation. 1110 13

Breath holding attacks are most common in children aged 6 months to 6 years, in 76% of cases between 6 and 18 months of age. Very often they are misinterpreted as tonic epileptic seizures. They are provoked by frustration, anger or sudden injury. Child starts to cry, then holds the breath at the end of expirium. After a few seconds it becomes cyanotic, and losses consciousness. It is usually floppy, but sometimes stiffness, and clonic seizures can be present, and child can be diagnosed as having epilepsy. The form in which child is pale is less frequent, and crying is usually brief or even absent in this type. Breath holding attacks usually do not last more then one to three minutes. Good heteroanamnesis is essential for diagnosis, revealing provoking factors for each attack. Interictal EEG registration is usually normal. Attacks often spontaneously cease after 5 or 6 years of age, and do not require any medical treatment. In more severe cases behavioral therapy has shown good results. It has been noticed that those children in adolescence have syncope more frequent then rest of population. Seventeen children (12 male and 5 female) were investigated at Pediatric Hospital in Sarajevo as breath holding attacks in period from June 1997 to June 2000. Age of patients was between 5 months and 5.5 years (median was 11 months). Hypochromic anemia was present in 12 patients (76%), with average hemoglobin value of 8.2 g/dl (5.9-11.0 g/dl). All children had normal EEG recording. Iron therapy gave positive response in 8 out of 9 patients that were followed (88.9%). Three patients had not come for follow up. It is concluded that hypochromic anemia is often a part of clinical presentation of breath holding attacks in children, and iron therapy can stop them.
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PMID:[Hypochromic anemia in children with affective breath-holding spells]. 1121 11

Pyridoxine-dependent seizure is a rare autosomal recessive disorder that usually presents with neonatal intractable seizures. This syndrome results from an inborn abnormality of the enzyme glutamic acid decarboxylase, which results in reduced pyridazine-dependent synthesis of the inhibitory neurotransmitter gamma amino butyric acid. The full range of symptomatology is unknown; but can be associated with autism, breath holding and severe mental retardation, bilious vomiting, transient visual agnosia, severe articulatory apraxia motor dyspraxia, microcephaly and intrauterine seizures. Parenteral pyridine injection test is a highly effective and reproducible test in confirming the diagnosis. Pyridoxine should be administered as a diagnostic test in all cases of convulsive disorders of infancy in which no other diagnosis is evident. Epileptic seizure discharges subside within 2-6 minutes after the intravenous injection of 50-100 mg of pyridaoxine. Once the diagnosis is confirmed, maintenance therapy should be continued indefinitely and doses increased with age or intercurrent illnesses. The maintenance dose of Bg needed is still not clear. There is a relatively wide range for the daily B6 dose necessary to control the seizure i.e., 10-200 mg/day.
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PMID:Pyridoxine-dependent seizures: a review. 1288 19

We report a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q24.3-q31.1. The patient shows postnatal growth retardation, microcephaly, ptosis, down-slanting palpebral fissures, long eyelashes and micrognathia. Halluces are long, broad and medially deviated, while the other toes are laterally deviated and remarkably short with hypoplastic phalanges. She also showed developmental delay, seizures, lack of eye contact, stereotypic and repetitive hand movements and sleep disturbances with breath holding. Prenatal and three independent postnatal karyotypes were normal. Array-CGH analysis allowed us to identify and characterize a "de novo" 2q interstitial deletion of about 10.4Mb, involving segment between cytogenetic bands 2q24.3 and 2q31.1. The deletion was confirmed by quantitative PCR. About 30 children with 2q interstitial deletion have been reported. The deletion described here is overlapping with 15 of these cases. We have attempted to compare the clinical features of our patient with 15 overlapping cases. The emerging phenotypes include low birth weight, postnatal growth retardation, mental retardation and developmental delay, microcephaly, and peculiar facial dysmorphisms. Peculiar long and broad halluces with an increased distance between the first and the second toe are ("sandal gap" sign) present in most of the described patients. The gene content analysis of the deleted region revealed the presence of some genes that may be indicated as good candidates in generating both neurological and dysmorphic phenotype in the patient. In particular, a cluster of SCNA genes is located within the deleted region and it is known that loss of function mutations in SCNA1 gene cause a severe form of epilepsy.
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PMID:2q24-q31 deletion: report of a case and review of the literature. 1708 12

We describe a peculiar form of epilepsy following prolonged and vigorous bouts of crying in infancy which was misdiagnosed as breath holding spells. Three patients with crying-induced epilepsy had the following characteristics. The patients were born after uncomplicated pregnancy, labor, and delivery. The seizures presented between the ages of 10 and 18 months, the patients had normal development and cranial MRIs, no past or family histories of epilepsy or cardiac disease, and developed generalized tonic clonic seizures only following crying after a sudden, unexpected and mildly unpleasant stimulus. The seizures usually lasted no longer than 1 min and their EEG showed focal spikes in interictal states and generalized spikes in ictal states. The seizures were well controlled with valproate sodium. This peculiar form of epilepsy may be a benign age-dependent reflex epilepsy in infancy.
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PMID:A peculiar form of epilepsy induced by crying in infancy. 1730 22


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