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)

Lamotrigine (LTG) has shown to confer broad-spectrum, well-tolerated control of epilepsy. Monotherapy is preferable over polytherapy because of better compliance, fewer adverse events, less interactions, lower teratogenicity and lower cost. The aim of this study is to evaluate the efficacy and safety of LTG monotherapy on seizure control in a cohort of children and adolescents with epilepsy. We retrospectively reviewed the records of children and adolescents treated with LTG monotherapy at our institution between 2001 and 2006. Data collected included demographics, seizure type, etiology of seizures, age at onset of seizures and at initiation of LTG treatment, number of antiepileptic drugs (AEDs) prior to LTG, dose of LTG, length of follow-up, treatment response, and adverse events. Seventy-two children and adolescents were identified (mean age 12.1 years); 37.5% had mental retardation. Age at onset of epilepsy was 5.7 years (0-16). Twenty three percent had symptomatic focal epilepsy, 15.5% idiopathic focal epilepsy, 19.4% symptomatic generalized epilepsy and 41.6% idiopathic generalized epilepsy. LTG was used as first-line monotherapy in 26.4% of patients and as a second-line monotherapy in 73.6%. Age at initiation of LTG therapy was 10 years (2.8-19). Mean number of AEDs tried prior to LTG was 1.3 (0-6). Mean dose of LTG was 5.5mg/kg/day (1.1-13.7). Mean follow-up period was 33 months (3 weeks to 11.5 years). The degree of seizure reduction was as follows: seizure free in 42%, 75-90% reduction in 17.4%, 50-74% in 11.6%, 25-49% in 10%. Sixteen percent had no change in seizure control and 3% became worse. The most common adverse event was rash (6.9%). Six (8.3%) patients discontinued LTG because of the adverse events. No patient had Stevens-Johnson syndrome. In conclusion, LTG was effective and well-tolerated as monotherapy in children and adolescents for both focal and generalized epilepsies.
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PMID:Efficacy and safety of lamotrigine monotherapy in children and adolescents with epilepsy. 1858 41

A woman contracted chickenpox in the 12th week of gestation. Her general practitioner and later the consultant obstetrician warned her about the small risk of giving birth to a disabled child. She decided to continue the pregnancy without undergoing invasive tests to diagnose fetal intrauterine infection. Symptoms of congenital varicella syndrome (CVS) were detected by ultrasound in the 29th and 34th weeks of gestation. On admission to hospital, the baby was not considered infectious and was not isolated because polymerase chain reaction analysis to detect varicella zoster virus (VZV) DNA in the blood, cerebrospinal fluid, saliva, skin scrapings and feces gave negative results. He was also not separated from his mother. The mother was without clinical complications. Varicella during pregnancy may result in VZV transmission to the fetus or newborn. Intrauterine VZV infection in the first 28 weeks of gestation may result in CVS with limb deformities, brain abnormalities and mental retardation. Usually the newborn is not infectious, and therapy and isolation are unnecessary. When the mother catches the infection in the second trimester, the newborn may manifest shingles in the first 2 years of life. A maternal rash erupting 5 days before to 2 days after delivery is frequently associated with clinically severe varicella in the newborn, leading to high mortality if untreated. Then the newborn is infectious and must be isolated. This case report underlines the need for expert medical counseling for women who contract chickenpox at any time during pregnancy. It also underlines the importance of immunizing susceptible women of childbearing age before they become pregnant.
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PMID:Congenital varicella syndrome: still a problem? 1947 88

Tuberous sclerosis (TS) is a multisystem disorder characterized by hamartomas in various organs. It usually manifests itself during infancy or childhood with neurological features, including mental retardation and seizures. We present the case of a military pilot who was diagnosed with TS at 22 yr. of age after he had completed flight training. Suspicion of TS arose from evaluation of a chronic rash around the pilot's nose, and diagnosis was confirmed based on the presence of multiple calcified nodules on CT imaging of the brain. No neurological abnormalities were found. The primary aeromedical concerns were the risk of seizures or development of tumors at sites that might lead to sudden incapacitation. Hamartomas can be reliably detected at an early stage by means of annual history, physical examination, and imaging of tumor-prone organs. After review of the literature and consultation with medical specialists, we assessed the risk of adult-onset seizures in a TS patient without preexisting neurological findings as scarce. The pilot was therefore granted a waiver limited to flying a two-pilot helicopter with a program of tight medical follow-up.
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PMID:Tuberous sclerosis in a military pilot. 1960 10

We report on a 22-year-old girl with a history of recurrent febrile episodes, chronic arthritis, urticarial rash, and neurological symptoms including right hemiparesis, internal hydrocephalus, mental retardation, progressive deafness, and visual impairment. Treatment starting at age 20 months, including different combinations of immunosuppressive and antiinflammatory drugs such as corticosteroids and anti-TNFalpha antibody, was unsuccessful. Four years ago, we found a heterozygous S595G mutation in the NLRP3 gene of this patient. This prompted us to introduce anakinra, which resulted in considerable improvement of the patient's complaints.
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PMID:Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. 1989 Jul 91

Hartnup disorder is caused by an inborn error of neutral amino acid transport in the kidneys and intestines. It is characterized by pellagra-like rash, ataxia, and psychotic behavior. Elevated urinary neutral amino acids are the first indicator of the disorder. SLC6A19 was identified as the causative gene in autosomal-recessive Hartnup disorder, which encodes the amino acid transporter B(0)AT1, mediating neutral amino acid transport from the luminal compartment to the intracellular space. Here, we report on a Korean boy aged 8 years and 5 months with Hartnup disorder, as confirmed by SLC6A19 gene analysis. He manifested seizures, attention-deficit hyperactivity disorder, and mental retardation without pellagra or ataxia. Multiple neutral amino acids were increased in his urine, and genetic analysis of SLC6A19 revealed compound heterozygous mutations, c.908C>T (p.Ser303Leu) and c.1787_1788insG (p.Thr596fsX73), both of which are novel. A novel SLC6A19 gene mutation was associated with late-onset seizures in a Korean patient with Hartnup disorder.
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PMID:Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. 2039 95

Tuberous sclerosis complex (TSC) is a genetic syndrome, characterized by seizures, mental retardation, and a typical facial rash. Many patients have early onset seizures (usually during infancy) which are refractory to medical treatment. It has been shown that the neurocognitive decline in TSC patients is associated with the severity of seizures. The cerebral pathologies in TSC include - tubers (associated with seizures), benign tumors (subependymal giant cell astrocytomas - SEGAs), and intraventricular subependymal nodules (SENs). Until recent years, TSC patients with refractory seizures were only rarely considered to be suitable for epilepsy surgery. Over the past few years, several pre-surgical and surgical techniques have enabled patients to undergo epilepsy surgery with a high rate of seizure control. These techniques include invasive monitoring, mapping and resection of epileptogenic foci. The overall seizure outcome is around 75% seizure freedom. Additionally, benign brain tumors unique for TSC (SEGAs) present a treatment challenge. These tumors are typically located adjacent to the foramen of Monro. Without treatment the tumors may obstruct the CSF pathways leading to hydrocephalus. Current treatment options include surgical approaches, as well as medical treatment with mTOR inhibitors. The combination of medical and surgical treatments may decrease morbidity especially in partially resected tumors, multifocal tumors, or as neoadjuvant treatment in selected cases. In the current paper we review the neurosurgical aspects in the treatment of patients with TSC.
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PMID:[Neurosurgical aspects in the treatment of children with tuberous sclerosis complex]. 2460 7

Although the incidence of medical and neurological problems resulting from congenital cytomegalovirus (CMV) infection is relatively low, the widespread and indiscriminate nature of this infection and the severity of these conditions when they do occur are such that it warrants the close attention of medical specialists, audiologists, and educators. The identification of congenital CMV is especially difficult because of its largely nonsymptomatic character, and because conditions associated with it, including hearing impairment, can be either progressive in nature or occur only later in life. Data reviewed in this study resemble those reported for children with impaired hearing from the 1964-65 maternal rubella epidemic: hearing loss in the severe to profound range, often accompanied by serious additional disabilities, especially mental retardation and cerebral palsy. Depressed achievement test results of children with CMV-induced hearing loss are further indications of the serious nature of this disease.The presence of any symptoms of CMV infection in infants or of risk factors associated with it-e.g., purplish skin rash, severe asphyxia, jaundice, low birth weight, swollen lymph glands, and other mononucleosis-like symptoms-signals the need for immediate testing, including audiological evaluation, and, if results are positive, the initiation of early medical and educational intervention.
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PMID:Congenital Cytomegalovirus and Deafness. 2666 5


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