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)

24 infants consecutively treated with acyclovir or vidarabine for neonatal herpes simplex virus (HSV) encephalitis were followed up for 6 months to 3 years to assess neurological and developmental outcome. 15 patients had HSV-2 and 9 had HSV-1 encephalitis. Infants with HSV-2 encephalitis presented with a higher frequency of seizures, greater pleocytosis and protein concentrations in the cerebrospinal fluid, and more frequent evidence of structural damage on computerised tomographic scans of the brain than did those with HSV-1 encephalitis. 1 patient died. All 9 HSV-1 patients were normal at follow-up (mean 19.4 months) compared with only 4 (23%) of the 14 surviving HSV-2 infected infants (p = 0.003). Among infants with HSV-2 encephalitis, 50% became microcephalic; 57% had seizure disorders; 64% had ophthalmological defects; 64% had cerebral palsy; and 57% had mental retardation. Infants with neonatal HSV-1 encephalitis treated with systemic antiviral chemotherapy have excellent neurological outcomes; the neurological morbidity of those with HSV-2 encephalitis is still high.
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PMID:Difference between herpes simplex virus type 1 and type 2 neonatal encephalitis in neurological outcome. 289 86

Some viruses, such as rubella and human cytomegalovirus, are known to cross the placental barrier and infect the fetus. In other cases of maternal viral infections, such as herpes simplex, evidence for transplacental passage is less convincing and fetal damage or neonatal disease may be coincidental or associated with perinatal infection. Certain cases of fetal or neonatal disease following maternal viral infections may be associated with disease in the mother which affects her metabolic processes or the placenta in such a way as to interfere with development of the fetus and infant. The possible effects of transplacental viral infections are several. Fetal loss may occur by means of abortion or stillbirth. There may be infection of the fetus, with clinical manifestations such as rash, or without clinical manifestations. The infant may be born with congenital defects, including such deformities as cataracts, cardiac anomalies, mental retardation or cerebral palsy. Although a number of maternal viral diseases have been etiologically incriminated in congenital defects, only two-rubella and cytomegalovirus infection-are definitely proved to be associated with anomalies or mental retardation in infants.
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PMID:Congenital anomalies and viral infections in infants. The etiologic role of maternal viral infections. 595 31

The relationship between herpes simplex virus type 1 and mental retardation is explored by studying the antibody levels to this virus in a group of 86 severely and profoundly retarded adults. A tendency towards higher antibody levels is found in patients whose retardation is of unknown aetiology. The relationship of these observations to previous research findings and the possible significance of herpes simplex virus in the aetiology of mental retardation are discussed.
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PMID:The possible relationship of herpes simplex virus infection to cause of retardation in severe mental handicap. 625 7

Three children (6 eyes) with systemic tyrosinemia who presented with a diagnosis of herpes simplex keratitis are described. Two of the patients underwent extensive treatment for herpes simplex keratitis until their defects in tyrosine metabolism were discovered. All three children responded favorably to a low-tyrosine diet. These cases illustrate the typical corneal findings of the Richner-Hanhart syndrome (pseudodendritic keratitis, hyperkeratotic skin lesions of the palms and sole without mental retardation). The findings in these three patients were similar to those cases previously reported in the literature except none had mental retardation. The ophthalmologist confronted with a young child with bilateral dendritiform keratitis should request evaluation of the serum tyrosine levels.
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PMID:Pseudodendritic keratitis and systemic tyrosinemia. 645 71

Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and mental retardation. Serum tyrosine increases due to tyrosine aminotransferase deficiency resulting in the deposition of tyrosine crystals in the cornea and in corneal inflammation. Patients are often misdiagnosed as having herpes simplex keratitis. We report on a child who presented with bilateral keratitis secondary to Tyrosinemia Type II diagnosed as herpes simplex keratitis.
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PMID:Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. 764 39

CMV is the most common cause of intrauterine infection in this country, affecting approximately 1% of newborns. As such, CMV infection is a leading cause of deafness and an important contributor to learning disabilities. The virus is transmitted through close contact with infected secretions as well as transplacentally, through sexual contact, and through blood transfusion and organ transplantation. CMV has a high prevalence in the population; antibody to the virus can be detected in 50% to 85% of individuals. Like herpes simplex, the virus can be reactivated and cause recurrent infection. Congenital disease occurs in about 30% to 40% of women with primary infection. Ten percent of infants with congenital infection will have clinical disease at birth. Of these, as many as 30% die. Ninety percent of survivors have sequelae such has deafness, mental retardation, chorioretinitis, and motor deficits. The other 90% of infants with congenital infection are asymptomatic at birth, but 5% to 17% develop long-term sequelae. Congenital disease also occurs with recurrent maternal infection in about 0.2% to 1% of immune women. Congenital infection due to recurrent disease is far less severe, and less than 10% of affected infants have long-term sequelae (Fig 3). The diagnosis of congenital infection can be established using a combination of ultrasound, amniocentesis, and cordocentesis. Viral culture of neonatal urine can confirm the diagnosis after birth. Routine screening of the pregnant population is not currently recommended because present laboratory methods limit the ability to differentiate primary from recurrent infection. Preventive efforts at this time must focus on good hygiene, limited intimate contact with infected children, and responsible sexual practices.
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PMID:Cytomegalovirus infection in pregnancy. 816 23

Infections were considered to be etiological factors in 29 patients (10%) with infantile spasms; congenital CMV (n = 5), congenital or acquired CMV (n = 1), acquired CMV (n = 5), congenital rubella (n = 2), herpes simplex virus (n = 5), enterovirus (n = 1), adenovirus (n = 1), viral encephalitis of unknown agent (n = 3), meningococcus (n = 4), pneumococcus (n = 1) and pertussis (n = 1). The children with congenital infections had long-lasting tremor and convulsions from birth. Early EEG pattern was characteristic for children with herpes encephalitis but not for other patients. Infantile spasms appeared only some weeks after viral encephalitis. One patient with enterovirus and another with probable adenovirus infection had necrotic changes in their brain CT resembling those of herpes encephalitis. The response to ACTH was poor (38%) compared to the whole series (60%). The long-term outcome was also poor compared to the whole series; mental retardation in 90%, convulsions in 62%, abnormal EEG in 89%. Four children died during the follow-up of 7 years. Autopsy showed disseminated CMV infection in one patient and chronic CMV infection in another. The outcome of children with infectious etiology appears to be particularly poor. Thus, the prevention and specific diagnosis and treatment are important. Steroid therapy should be avoided in children with a history of herpes virus encephalitis (CMV, herpes simplex) in the past.
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PMID:Infantile spasms: infectious disorders. 830 17

We report a 48-year-old Japanese man suffering from xeroderma pigmentosum associated with mental retardation, cerebral atrophy and cerebellar ataxia. Cultured fibroblasts from an unexposed area of skin had reduced DNA repair capacity after UV irradiation, with higher sensitivity to UV than normal cells in colony-forming ability and host cell reactivation using herpes simplex virus. Genetic complementation tests by cell fusion with polyethylene glycol revealed that the patient belonged to group F. He died of bile duct cancer at the age of 50. This is the first report of an XP-F patient with neurological abnormalities.
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PMID:A case of xeroderma pigmentosum complementation group F with neurological abnormalities. 842 28

Mutations in the L1 neural cell adhesion molecule, a transmembrane glycoprotein, cause a spectrum of congenital neurological syndromes, ranging from hydrocephalus to mental retardation. Many of these mutations are single amino acid changes that are distributed throughout the various domains of the protein. Defective herpes simplex virus vectors were used to express L1 protein with the clinical missense mutations R184Q and D598N in the Ig2 and Ig6 extracellular domains, respectively, and S1194L in the cytoplasmic domain. All three mutant proteins were expressed at similar levels in infected cells. Neurite outgrowth of cerebellar granule cells was stimulated on astrocytes expressing wild-type or S1194L L1, whereas those expressing R184Q and D598N L1 failed to increase neurite length. Live cell immunofluorescent staining of L1 demonstrated that most defective vector-infected cells did not express R184Q or D598N L1 on their cell surface. This greatly diminished cell-surface expression occurred in astrocytes, neurons, and non-neural cells. In contrast to wild-type or S1194L L1, the R184Q and D598N L1 proteins had altered apparent molecular weights and remained completely endoglycosidase H (endoH)-sensitive, suggesting incomplete post-translational processing. We propose that some missense mutations in human L1 impede correct protein trafficking, with functional consequences independent of protein activity. This provides a rationale for how expressed, full-length proteins with single amino acid changes could cause clinical phenotypes similar in severity to knock-out mutants.
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PMID:Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression. 1090 8

Specific IgG antibodies against Toxoplasma, rubella, cytomegalovirus and herpes simplex (TORCH agents) were investigated in 32 infants and children with unexplained mental retardation (MR) and their mothers. 16 mentally normal infants and children of the same age group and their mothers were chosen as controls. Specific Toxoplasma IgG antibodies were 43.75% for MR cases and 37.5% for their mothers. Six (18.75%) mothers gave history of eating raw meat and canned food, while 8 (25%) had pet cats. 56.25% of the MR cases, and 81.25% of their mothers were positive to specific rubella IgG antibodies. 75% of MR cases and 81.25% of their mothers were positive for CMV specific IgG antibodies. Also, 18.75% of the MR cases and 25% of their mothers showed positivity to herpes simplex specific IgG antibodies. 93.75% showed positivity to one or more of the mentioned pathogenic agents.
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PMID:Studies on prenatal infections in children with unknown cause of mental retardation and examination of their mothers. 1256 83


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