Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 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

Some cases of complete Aicardi's syndrome (agenesis of the corpus callosum, infantile spasmus, mental retardation, costovertebral anomalies and a characteristic lacunar chorioretinopathy) are reported together with other unusual cases (isolated lacunar chorioretinopathy).
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PMID:Aicardi's syndrome. 393 17

In summary, Aicardi syndrome is defined by its tetrad of infantile spasms, agenesis of the corpus callosum, mental retardation, and chorioretinal lacunae. We report a case of Aicardi syndrome with associated cleft lip and palate. This is an infrequent finding that is present in approximately 3 percent of reported cases. Plastic surgeons should be aware of this association when treating patients with cleft lip and palate.
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PMID:The association of cleft lip and palate with Aicardi syndrome. 811 18

M6 is a neuronal membrane glycoprotein that may have an important role in neural development. This molecule was initially defined by a monoclonal antibody that affected the survival of cultured cerebellar neurons and the outgrowth of neurites. The nature of the antigen was discovered by expression cDNA cloning using this monoclonal antibody. Two distinct murine M6 cDNAs (designated M6a and M6b) whose deduced amino acid sequences were remarkably similar to that of the myelin proteolipid protein were previously isolated. We have isolated partial human cDNA and genomic clones encoding M6a and M6b and have characterized them by restriction mapping, Southern hybridization with cDNA probes, and sequence analysis. We have localized these genes within the human genome by FISH (fluorescence in situ hybridization). The human M6a gene is located at 4q34, and the M6b gene is located at Xp22.2. A number of human neurological disorders have been mapped to the Xp22 region, including Aicardi syndrome (MIM 304050), Rett syndrome (MIM 312750), X-linked Charcot-Marie-Tooth neuropathy (MIM 302801), and X-linked mental retardation syndromes (MRX1, MIM 309530). This raises the possibility that a defect in the M6b gene is responsible for one of these neurological disorders.
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PMID:Chromosomal mapping of the human M6 genes. 866 Oct 15

The authors report a case of a 5 months old female child with clinical features of Aicardi syndrome: agenesis of the corpus callosum, occular abnormalities ("chorioretinal lacunae" and microphthalmus), infantile spasms, mental retardation, vertebral malformations and thoracic deformity. The pacient was submitted to complementary examinations that confirmed the diagnosis. The neuroradiologic images (MRI) showed besides corpus callosum agenesis a tumor located at the left ventricular atrium (choroid plexus papilloma). This association is a rare occurrence and the present case is the seventh described in literature. Furthermore, we suggest that the choroid plexus pappilloma could be a characteristic tumor of the Aicardi syndrome.
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PMID:[Aicardi syndrome and choroid plexus papilloma: a rare association. Case report]. 898 93

Several X-linked disorders affect females disproportionately or exclusively. These including focal dermal hypoplasia, oral-facial-digital syndrome type I (ref. 3) and epilepsy with bilateral periventricular heterotopias. X-linked dominant inheritance with male lethality is probably responsible for sex-limited expression of these disorders, as affected women have frequent spontaneous abortions and the sex ratio of their live offspring is often skewed. The same inheritance pattern has been proposed for Rett syndrome, Aicardi syndrome and microphthalmia with linear skin defects, but in these sporadic conditions, evidence of male lethality is lacking. We investigated an unusual family with epilepsy and mental retardation limited to females (EFMR, #121250 in ref. 9); this disorder is transmitted both by females and by completely unaffected carrier males. Assignment of the EFMR disease locus (EFMR) to the X chromosome indicates that selective involvement of females in X-linked disease may in some instances result from male sparing rather than male lethality.
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PMID:Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. 928 83

Infantile spasms is a catastrophic form of epilepsy found only in infants and young toddlers, with the peak incidence between 4 - 7 months of age. Estimated prevalence is 1 in 2000 - 6000 live births. There are many causes of infantile spasms, including tuberous sclerosis, hypoxic-ischaemic injury, congenital infectious diseases, inborn errors of metabolism, malformations of cortical development, genetic syndromes such as Aicardi's syndrome and chromosomal abnormalities. A small percentage of patients have idiopathic infantile spasms, with normal growth and development prior to the onset of infantile spasms and no known aetiology. Because of the poor prognosis of infantile spasms, treatment is usually aggressive and immediate, with the hopes of altering the natural history of the disease. The majority of patients with infantile spasms have a poor prognosis with intractable epilepsy, severe developmental delays and/or significant cognitive impairments. Of all patients with infantile spasms, 70 - 90% have mental retardation. Furthermore, 20 - 50% of patients with infantile spasms develop Lennox-Gastaut syndrome with multiple seizure types, cognitive impairments and a markedly abnormal electroencephalogram, arguably one of the most difficult epilepsy syndromes to treat. Infantile spasms are resistant to most of the standard antiepileptic drugs. Adrenocorticotropin hormone (ACTH) or oral steroids result in a significant reduction of seizures, as well as an improvement in the electroencephalogram. Some studies have indicated that infants treated with ACTH within the first month of onset have a more favourable prognosis. Vigabatrin has also been shown to be effective in the treatment, although it is not yet FDA-approved in the US. Valproate has also been used in the treatment of infantile spasms, with an efficacy of approximately 25 - 40%. However, in the very young infant, it does carry a high risk of fatal hepatotoxicity. Surgical resection may be the treatment of choice for those infants with focal cortical dysplasia and intractable infantile spasms. Emerging therapeutic possibilities include topiramate, felbamate, lamotrigine, zonisamide and perhaps levetiracetam. With the advancements in molecular biology, genetics and neuroimaging, there is the hope of novel therapies in the future.
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PMID:Infantile spasms. 1459 57

Aicardi syndrome has been defined by the triad of agenesis of the corpus callosum, early seizure onset and lacunar chorioretinopathy. In a nation-wide survey a total of 18 Swedish cases were found. Fourteen girls were re-examined by one of the authors at the ages of 1-27 years. One was seizure free following epilepsy surgery operation, 13 were drug resistant. Two were on ketogenic diet. Most of the girls had multifocal EEG discharges. All except one were severely disabled with severe mental retardation and total dependency on helpers for activities of daily life. Communication, nutrition, and motor function were severely affected areas. Visual function was difficult to evaluate because of mental retardation and lack of co-operation and varied from severely impaired to normal. In one case the appearance of the ocular fundus was documented to have changed with time. One girl was exceptional and seizure free with mild mental retardation. An update by March 2006 showed that 12/18 patients were still alive, at a median age of 13.5 years (range: 3-31 years). Six had died between the ages of 3-10 years. They had all suffered from intractable epilepsy and belonged to the most disabled group. Surprisingly two had died from malignant brain tumours.
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PMID:Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002. 1805 26

Monosomy 1p36 is the most frequent terminal deletion known in Humans. Typical craniofacial features, developmental delay/mental retardation, seizures and sensorineural defects characterize 1p36 deletion syndrome. Aicardi syndrome (AIS) is a rare genetic disorder characterized by chorioretinal lacunae, corpus callosum agenesis and infantile spasms responsible for mental retardation. By screening DNA from diagnosed AIS patients with oligonucleotide array-based comparative genomic hybridization (aCGH), we report a 1p36 monosomy in this study. There were no other deletions or duplications. Regarding clinical criteria, the patient did not have the typical facial appearance commonly described for 1p36 monosomy patients. We showed that this 1p36 monosomy corresponded to combined interstitial and terminal de novo deletions of the chromosome 1 leading to an 11.73 Mb deletion confirmed with qPCR. By microsatellite markers and FISH analyses, we have concluded that this deletion occurred on maternal chromosome 1 during oogenesis. We did find some clinical features shared by the 1p36 monosomy and AIS: infantile spasms, corpus callosum dysgenesis, ophthalmological abnormalities, and skeletal malformations. To date, no relationship between these two phenotypes has been established. We conclude that the monosomy 1p36 should be considered in the differential diagnosis of AIS.
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PMID:Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. 1984 96

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting females almost exclusively and is characterized by a wide spectrum of clinical manifestations. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene have been found in up to 95% of classical RTT cases and a lesser proportion of atypical cases. Recently, mutations in another X-linked gene, CDKL5 (cyclin-dependent kinase-like 5) have been found to cause atypical RTT, in particular the early onset seizure (Hanefeld variant) and one female with autism. In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n=102), males with X-linked mental retardation (n=9), patients with West syndrome (n=52), patients with autism (n=59), patients with epileptic encephalopathy (n=33), patients with Aicardi syndrome (n=7) and other patients with intellectual disability with or without seizures (n=54). In all, seven polymorphic variations and four de novo mutations (c.586C>T [p.S196L]; c.58G>C [p.G20R]; c.2504delC [p.P835fs]; deletion of exons 1-3) were identified, and in all instances of the latter the clinical phenotype was that of an epileptic encephalopathy. These results suggest that pathogenic CDKL5 mutations are unlikely to be identified in the absence of severe early-onset seizures and highlight the importance of screening for large intragenic and whole gene deletions.
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PMID:Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. 2039 47


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