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

Aicardi's syndrome consists of abnormalities of the ocular fundus, myoclonic seizures, mental retardation, and congenital malformations of the brain and vertebral column in females. The pathognomonic chorioretinal lesions were noted on ophthalmologic examination of a 22-month-old girl, observed for 19 months with severe myoclonic seizures and profound mental retardation. Computerized tomography confirmed major malformation of the brain. Roentgenograms showed anterior fusion of two thoracic vertebrae. Electroretinography was normal, but visual evoked responses were abnormal. Only 72 children are known to have this syndrome; no affected siblings have been reported. The absolute sex limitation--all cases have been female--suggests that the disorder is produced by a mutation on one of the X chromosomes, and is nonviable in male conceptuses. These genetic considerations dramatically influence counseling of parents regarding likelihood of occurrence of the syndrome in subsequent offspring.
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PMID:Aicardi's syndrome. Case report, clinical features, and electrophysiologic studies. 41 7

Although infantile spasms were initially described in 1841, remarkably little progress has been made in understanding the pathophysiology of this "peculiar form of infantile convulsions." Consequently, our ability to treat infantile spasms is limited. Infantile spasms are classified as a "generalized" seizure disorder in the international classification system, which suggests that the underlying brain abnormality causing the seizures also must be diffuse or generalized. As the classification suggests, there are many diffuse, or multifocal, brain disorders related to infantile spasms, e.g., inborn errors of metabolism, hypoxic-ischemic brain injury, and developmental brain defects such as tuberous sclerosis or Aicardi's syndrome. On the other hand, infantile spasms have been reported in which a localized brain abnormality was present, e.g., tumor, stroke, and trauma. On rare occasions, removal of a tumor has resulted in cessation of the generalized infantile spasms. This finding suggests that focal cortical abnormalities can cause infantile spasms and that removing the abnormality can stop the seizures. At University of California, Los Angeles, the Pediatric Epilepsy Surgery Program has developed new approaches to the treatment of infantile spasms. The principal underlying concepts are (a) children with medically refractory infantile spasms may have an area of cortical defect (called the zone of cortical abnormality) that causes the seizures and (b) infantile spasms are usually generalized seizures. Thus, the goal of the surgical assessment is not the identification of the focus of seizure onset but rather the identification of the zone of cortical abnormality.
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PMID:Treatment of infantile spasms: medical or surgical? 133 May 8

We described a 5-month-old girl with Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. She was admitted to our hospital because she suffered from intractable flexor spasms. Physical examination revealed craniofacial asymmetry, left auricular deformity, scoliosis, and remarkable hypotonia with psychomotor retardation. Abnormal ophthalmological findings included chorioretinopathy with pale and round-shaped peripapillary lacunae, and there was modified hypsarrhythmia in her EEG. MRI revealed multiple brain tumors in the 3rd and the lateral ventricles which are considered to be choroid plexus papilloma with agenesis of the corpus callosum. ACTH therapy was administered because of the intractable seizures. After ACTH therapy, the thresholds of waves I and V were much improved. The interpeak latency of waves I-V of the left ear and the peak latency of wave I of the right ear had been lengthened. Acoustic reflex with contralateral stimulation showed no response in the left ear. These findings indicate that the auditory system is also involved in the Aicardi syndrome and that ACTH is effective for its dysfunction.
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PMID:Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. 166 49

Case report of a four-year-old girl with Aicardi's syndrome diagnosed from the triad: absence of the corpus callosum, focal seizures, and chorioretinal lacunae. In addition, MR scans and orbital ultrasonography detected retrobulbar cysts behind the right microphthalmic eye not described so far. Analyzing the histological data from two previous reports, it becomes likely that the cysts have formed from abnormal migration of neuroretinal tissue through the border of the optic disc coloboma that was also present. This pathomechanism is also known in isolated colobomatous microphthalmos in which cysts may occur.
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PMID:Retrobulbar cysts in Aicardi's syndrome. 192 12

All patients with Aicardi syndrome are female or have a 47,XXY karyotype. This finding, along with a report of an Aicardi syndrome patient with an Xp22/autosome translocation, led to the hypothesis that Aicardi syndrome might be caused by an X-linked dominant, male-lethal mutation on the short arm of the X chromosome. To study this hypothesis, we investigated X chromosome inactivation patterns in peripheral lymphocytes from seven patients. We used two methods: methylation-sensitive restriction enzyme analysis and segregation of the active X chromosome in somatic cell hybrids. We found that three of seven cytogenetically normal girls with Aicardi syndrome had profoundly skewed X-inactivation in their lymphocytes, supporting the concept that Aicardi syndrome is X linked. Three of the five girls with the greatest degree of psychomotor retardation and the poorest seizure control had skewed X-inactivation. In contrast, the two highest-functioning children had random X-inactivation. We screened DNA using eight polymorphic probes from the Xp22 region but were unable to identify a deletion in any of the seven patients. Nonrandom X-inactivation in lymphocytes and possibly other tissues in some, but not all, patients with Aicardi syndrome may reflect heterogeneity of their molecular lesions.
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PMID:Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. 197 52

A five-year-old girl of Aicardi syndrome showed moderate psychomotor retardation. She could walk and communicate. At six months of age, she developed salaam convulsion with series. Convulsions disappeared immediately after ACTH treatment. At eighteen months of age, she developed myoclonic seizures. From three years of age, head-nodding seizures with series relapsed and could not be controlled. But she could walk alone at two years old and speak a word at one and half years old. A degree of her psychomotor retardation was more slightly than others published cases of Aicardi syndrome. There were eleven reports, included our case, with mild retardation in Aicardi syndrome. The features of these are 1) late onset of seizures, 2) good response to ACTH therapy, 3) no significant abnormalities of brain except for agenesis of corpus callosum.
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PMID:[A case of Aicardi syndrome with moderate psychomotor retardation]. 216 75

We present a 4-year-old girl with a maternally derived, unbalanced X;3 translocation resulting in partial Xp monosomy and partial 3p trisomy. She had chorioretinal defects, developmental delay, infantile seizures, and microphthalmia. These findings initially suggested a diagnosis of Aicardi syndrome. However, she had a normal-appearing corpus callosum on CT and magnetic resonance imaging scans of the brain and her retinal findings were not typical for Aicardi syndrome. This represents the 6th reported example of microphthalmia associated with an Xp22 chromosome abnormality. Four of these individuals also had features suggestive of focal dermal hypoplasia (FDH), which was not evident in our patient. The available evidence supports the hypothesis that gene disruption at Xp22 may lead to findings similar to those seen in Aicardi syndrome and FDH, both of which are believed to be X-linked dominant male lethal conditions.
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PMID:Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization. 224 84

A Japanese girl is reported who had the typical clinical features of Aicardi syndrome associated with embryonal carcinoma. She developed infantile spasms at approximately 4 weeks of age; her seizures were intractable in spite of treatment with numerous antiepileptic drugs and ACTH. At 22 months of age, her left cheek gradually became swollen. Laboratory findings were normal except for a marked increase in serum alpha-fetoprotein. A transoral biopsy of the tumor revealed an embryonal carcinoma. This patient is the first reported with Aicardi syndrome and embryonal carcinoma. The relationship between congenital malformations and neoplasms is discussed.
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PMID:Aicardi syndrome associated with an embryonal carcinoma. 265 39

Eighteen girls with Aicardi syndrome were identified through a survey of neurologists, geneticists, and ophthalmologists. All had infantile seizures, developmental delay, agenesis of the corpus callosum (complete: 72%, partial: 28%), and characteristic chorioretinal lacunar lesions. Costovertebral defects including hemivertebrae, scoliosis, and absent or malformed ribs were present in 39%, cortical heterotopias were present in 50%, and microphthalmia was identified in a third. Cytogenetic investigation was carried out in all families. An unbalanced X;3 translocation, 46,X,der(X)t(X;3)(p22.3;p23)mat, was discovered in a girl with chorioretinal lacunar lesions characteristic of Aicardi syndrome, developmental delay, and infantile seizures. However, this child had a normal appearing corpus callosum on CT and magnetic resonance imaging scans and therefore did not meet the criteria for inclusion in the study. Chromosomes of all other patients and parents were normal. Findings at birth, age of seizure onset, treatment, and prognosis are discussed. The pedigree data from these 18 families demonstrated an unaffected male:female sib ratio of 1:1.7 and a 14% spontaneous abortion rate. The findings of this study support the contention that Aicardi syndrome is an X-linked dominant disorder with early embryonic lethality in hemizygous males and that all cases represent new mutations.
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PMID:Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. 277 86

Aicardi's syndrome occurs in females and is associated with profound mental retardation, agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. We report a distinctive combination of abnormalities which was observed on real-time cranial ultrasound scans of two infants with Aicardi's syndrome. These abnormalities include bilateral prominent cysts in the choroid plexus in conjunction with agenesis of the corpus callosum. Recognition of these radiologic findings may suggest the diagnosis of Aicardi's syndrome in early infancy even prior to the onset of seizures or visualization of chorioretinal lacunae.
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PMID:Neurosonographic features of Aicardi's syndrome. 279 83


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