Epileptic encephalopathies in infancy and early childhood

Panayiotopoulos, C. P.

doi:10.1007/978-1-84628-644-5_10

Cited by 13 publications

(26 citation statements)

References 207 publications

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“…Seizures are quite treatment resistant including poor response to adrenocorticotropic hormone (ACTH), and prognosis is dismal. Severe neurodevelopmental impairment and early death are common [2,3]. EIEE (Ohtahara syndrome) also begins shortly after birth, and nearly always prior to 3 months of age, characteristically presenting with tonic seizures.…”

Section: Childhood Onsetmentioning

confidence: 99%

“…Some structural lesions may be surgically amenable, including focal cortical dysplasias, Sturge-Weber syndrome, arteriovenous malformations, or tuberous sclerosis that fails medication therapy. Five to thirty percent of patients who lack any abnormal findings with extensive imaging and laboratory testing and who retain normal developmental progress fall into a category of idiopathic infantile spasms [2].…”

Section: Differential Diagnosis Of Infantile Spasmsmentioning

confidence: 99%

“…These represent 3-6% of cases [2]. ISWG did not reach consensus regarding whether oral steroids should be considered firstline therapy, nor did they recommend a specific dosage strategy [7,8].…”

Section: Familial Casesmentioning

confidence: 99%

“…Incomplete forms of Dravet syndrome may lack myoclonus and atypical absence seizures. The EEG background eventually declines from normal frequencies to 5-6 Hz dominant rhythms; photosensitivity by EEG is an early and distinctive feature [2,25].…”

Section: Severe Myoclonic Epilepsy Of Infancy (Smei) or Dravet Syndromementioning

confidence: 99%

“…Other seizure types include atypical absence seizures. Tonic seizures usually do not occur, and some authors consider them exclusionary for MAE [2,25].…”

Section: Myoclonic-astatic Epilepy (Mae) or Doose Syndromementioning

confidence: 99%

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Cryptogenic and Symptomatic Generalized Epilepsies: Epilepsies with Encephalopathy

Keough¹

2012

Epilepsy in Children and Adolescents

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Section: Childhood Onsetmentioning

confidence: 99%

Section: Differential Diagnosis Of Infantile Spasmsmentioning

confidence: 99%

Section: Familial Casesmentioning

confidence: 99%

Section: Severe Myoclonic Epilepsy Of Infancy (Smei) or Dravet Syndromementioning

confidence: 99%

“…Other seizure types include atypical absence seizures. Tonic seizures usually do not occur, and some authors consider them exclusionary for MAE [2,25].…”

Section: Myoclonic-astatic Epilepy (Mae) or Doose Syndromementioning

confidence: 99%

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Cryptogenic and Symptomatic Generalized Epilepsies: Epilepsies with Encephalopathy

Keough¹

2012

Epilepsy in Children and Adolescents

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Sudden Unexpected Death in Epilepsy: Pathogenesis, Risk Factors, and Prevention

Chuang

Nei

Kang³

2022

Semin Neurol

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Sudden unexpected death in epilepsy (SUDEP) is a tragic and unexpected cause of death in patients with a known diagnosis of epilepsy. It occurs in approximately 1.2 per 1,000 adults and 0.2 per 1,000 children with epilepsy each year. 1 However, these numbers can increase up to 6.3 to 9.3 per 1,000 in patients with drug-resistant epilepsy (DRE). 2 Compared with the general population, patients with epilepsy have been found to have a 24 times higher risk of sudden death. 3 Those with DRE, nocturnal seizures, and generalized tonic-clonic seizures (GTCS) have a higher risk of SUDEP. In this article, we discuss the risk factors and pathogenesis underlying SUDEP, and highlight potential preventative strategies. Definition and Classification of SUDEPThe definition of SUDEP has varied across providers. Nashef et al has defined SUDEP as sudden, unexpected, witnessed or unwitnessed, nontraumatic, and nondrowning death in patients with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination does not reveal a toxicologic or anatomic cause for death. 4 The Annegers criteria classifies the certainty of the diagnosis to divide SUDEP into three categories: (1) definite SUDEP-in which clinical criteria are met and autopsy reveals no alternative cause of death, (2) probable SUDEP-in which clinical criteria are met but an autopsy is not performed, and (3) possible SUDEP-in which SUDEP cannot be ruled out. However, there is insufficient evidence with respect to the circumstances of death and postmortem evaluation is unavailable. 5 This criteria was further modified by Nashef et al to include modifications to categories 1 and 2, as well as the addition of a fourth category called near SUDEP/near SUDEP plus, as detailed in ►Table 1. 4 Keywords ► sudden unexpected death in epilepsy ► refractory epilepsy ► drug-resistant epilepsy

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Letters to the Editor

Yüksel¹,

Yılmaz²,

Usak³

et al. 2009

J Paediatrics Child Health

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Aicardi syndrome, first described by Aicardi et al. in 1965, is characterised by total or partial agenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. 1,2 Other associated conditions of this dominant X-linked inherited syndrome are severe mental retardation, gyral abnormalities, grey matter heterotopia, facial dysmorphisms, microphtalmia, colobomas of choroid or retina, skin lesions and abnormalities of hand, vertebra or costa. 3 We present a female infant with Aicardi syndrome with vertebral malformations and an arachnoid cyst, both of which are rare additional findings.A 4-month-old female infant was admitted to our hospital with the complaint of repetetive head dropping after crying. She was the first baby of a 26-year-old mother with uneventful birth history. There was no consanguinity or family history for this patient. On physical examination the weight and head circumference were 6800 g (25-50 percentile) and 40 cm (50 percentile), respectively. She was not able to follow the light and did not smile. Fundoscopic examination revealed chorioretinal lacunae. The physical examination of other systems, complete blood count, results of biochemical tests, thyroid function tests, urine and blood aminoacids, urinary organic acids, biotinidase and the serological test for TORCH group of infections (Toxoplasma gondii, Rubella, Cytomegalovirus and Herpes simplex) were normal. On electroencephalography (EEG) there was interhemispheric asymmetry and burst-supression pattern on the left hemisphere, which was thought to be asymmetric hypsarrythmia. Magnetic resonance imaging (MRI) of the brain revealed complete agenesis of the corpus callosum and an arachnoid cyst of 10 ¥ 27 mm in the middle cranial fossa (Fig. 1). Radiological findings included a butterfly vertebra on the 12. thoracal vertebra, decrease in the height of vertebral corpuses of the 9. and 10. vertebrae and wedging deformation on the 9. vertebra (Fig. 2). Treatment with ACTH was unsuccessful. It was changed to vigabatrin and a maintenance dose of 200 mg/kg/day showed good seizure control.Aicardi syndrome is an X-linked dominant disorder characterised by absence of the corpus callosum, chorioretinal lacunae and infantile spasms. 1-3 In this patient with mental and motor retardation, investigation of the aetiology of infantile spasms led us to Aicardi syndrome. The results of metabolic tests were normal. On EEG the presence of dissociation between the two hemispheres suggested agenesis of the corpus callosum and MRI of the brain revealed complete agenesis of the corpus callosum. EEG also showed asymmetric hypsarrythmia, which is an Fig. 2 Radiological findings included a butterfly vertebra on the 12. thoracal vertebra, decrease in the height of vertebral corpuses of the 9. and 10. vertebrae and wedging deformation on the 9. vertebra.

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Epileptic encephalopathies in infancy and early childhood

Cited by 13 publications

References 207 publications

Cryptogenic and Symptomatic Generalized Epilepsies: Epilepsies with Encephalopathy

Cryptogenic and Symptomatic Generalized Epilepsies: Epilepsies with Encephalopathy

Sudden Unexpected Death in Epilepsy: Pathogenesis, Risk Factors, and Prevention

Letters to the Editor

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