Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient is reported with seizures, developmental delay, and minor physical anomalies. Karyotype showed a ring formation of chromosome number 20. Previously reported patients with this chromosomal aberration have typically had seizures and behavioural disorders with considerable variation in the degree of physical abnormality and mental retardation. A correct diagnosis in such a case is important for accurate genetic counselling.
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PMID:Ring 20 chromosome in a child with seizures, minor anomalies, and retardation. 47 36

A 10-year-old girl with developmental delay, mental retardation and intractable seizures is reported. She manifested clinically as Lennox-Gastaut syndrome with unknown etiology before admission. Brain MRI revealed a band-like lesion over the bilateral subcortical region being later recognized as band-form heterotopia. This type of heterotopia may be overlooked easily due to its symmetrical distribution and mild degree of cortical convolutional anomaly. As it is often associated with intractable seizures and psychomotor retardation, the prognosis is poor. This patient responded poor to ketogenic diet and anticonvulsants. We present this case and review the related articles.
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PMID:[Lennox-Gastaut syndrome with band form heterotopia: a case report]. 165 45

We report on an infant with a previously undescribed chromosome 15 deletion (q26.1----qter) and compare the clinical findings with those of 7 reported patients with deletions of distal 15q, as well as ring chromosome 15 syndrome patients. Most of the patients with deletions of distal 15q, including our patient, have intrauterine growth retardation (IUGR), microcephaly, abnormal face and ears, micrognathia, highly arched palate, renal abnormalities, lung hypoplasia, failure to thrive, and developmental delay/mental retardation. Several genes have been assigned to the 15q25----qter region, including insulin-like growth factor 1 receptor (IGF1R). DNA analysis from our patient documented the loss of one IGF1R gene copy. Our study further localizes the IGF1R gene distal to the 15q26.1 band. It is interesting to speculate that the severe IUGR and postnatal growth deficiency of our patient and other patients with similar chromosome 15 deletions are related to the loss of an IGF1R gene copy which may lead to an abnormal number and/or structure of the receptors.
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PMID:An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene. 184 52

The neurological findings in 41 HIV-seropositive children are described. 23 children were symptomatic, eight seropositive but without symptoms and 10 seropositive children less than 15 months of age had no other evidence of immunodeficiency. Acquired microcephaly, developmental regression and progressive motor deterioration indicated HIV encephalopathy, as did developmental delay, mental retardation, cerebellar symptoms and behavioural changes. Three children with progressive encephalopathy improved after treatment with azidothymidine (AZT). In eight children treated with prophylactic intravenous immunoglobulin therapy (IVIG) and seven treated with both IVIG and AZT, no mental deterioration has been observed since the beginning of therapy. One child with advanced encephalopathy and severe pyramidal tract involvement did not improve.
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PMID:Central nervous system involvement of children with HIV infection. 186 79

Intrauterine growth retardation, microcephaly, and developmental delay in two first cousins lead to the recognition of phenylketonuria (PKU) in their mothers, 24- and 23 year-old sisters with blood phenylalanine concentrations of approx. 1.2 mmol/l who had never been treated and had no overt mental retardation. Both mothers were shown to be homozygous for a point mutation leading to an Arg-to-Gln substitution at codon 261 of the phenylalanine hydroxylase gene, a mutation which has been recently identified and tentatively associated with a mild variant of PKU. Our observation suggests that homozygosity for the Arg-261-Gln mutation can indeed result in "mild" PKU with little or perhaps no mental retardation, but also indicates that in such women, who may go unrecognized if not screened for, blood phenylalanine is elevated enough to cause the maternal PKU syndrome in their offspring.
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PMID:Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation. 191 2

Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disease accounting for approximately 4% of patients with severe combined immunodeficiency. Thirty-three patients have been reported. PNP-deficient patients suffer from recurrent infections, usually beginning in the first year of life. Two thirds of patients have evidence of neurologic disorders. Findings range from spasticity to developmental delay, to mental retardation. One third of patients develop autoimmune disease. The most common manifestation of this is autoimmune hemolytic anemia. Idiopathic thrombocytopenic purpura and systemic lupus erythematosis have also been reported. Patients usually present with infections but approximately one fourth have come to medical care initially for neurological problems. In PNP deficiency, T- and B-cell immunity are affected. T-cell function may be profoundly deficient, may be normal at birth and then decrease with time, or may fluctuate repeatedly between low and normal. B-cell function can be normal but is deficient in approximately one third of patients. PNP protein is a trimer of approximately 90,000 daltons. It is found in most tissues of the body but is at highest levels in lymphoid tissues. This tissue distribution explains why the lymphoid system is predominantly affected in PNP deficiency. Many mechanisms have been proposed to explain the metabolic toxicity in PNP deficiency. The elevated dGTP found in PNP deficiency is thought to inhibit ribonucleotide reductase and, thus, impede cell division. Depressed GTP levels may correlate with neurologic dysfunction. The gene for PNP has been cloned; it is located on the long arm of chromosome 14. Studies of a mutant PNP gene isolated from one patient showed that a point mutation resulting in an amino acid substitution was responsible for PNP deficiency. PNP deficiency has a grave prognosis. No patient has reached the third decade of life. Twenty-nine of the 33 reported patients have died from their disease. Prenatal diagnosis is currently available. Many different therapies have been utilized for PNP deficiency including bone marrow transplantation, red cell transfusions, and supplementation of the diet with purines and pyrimidines. None of these therapies has been consistently successful. In light of the poor prognosis for PNP deficiency, bone marrow transplantation should be considered for all patients. In the future, improved forms of therapy such as gene therapy may become available.
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PMID:Purine nucleoside phosphorylase deficiency. 193 Oct 7

Neonatal intracranial hemorrhage secondary to immune thrombocytopenia has been uniformly associated with neurological sequelae in survivors. These sequelae are seizures, hydrocephalus, mental retardation, and developmental delay. We report 7 survivors of intracranial hemorrhage who were prospectively evaluated regarding their long-term outcome at a mean of approximately 5 years of age. Five children were completely normal. One was delayed in speech, and one had a ventriculoperitoneal (VP) shunt in place and a residual hemiparesis. Four children had had seizures including the two with sequelae (speech delay and hemiparesis); only the patient with the VP shunt was still taking anticonvulsant medication. This latter patient was also the only one who required special education classes in which she was maintaining her grade level. In summary, a good long-term outcome can be expected in at least some patients with neonatal intracranial hemorrhage in cases of severe neonatal thrombocytopenia caused by maternal antiplatelet antibodies. This good outcome may be a result of, and should encourage, early diagnosis and vigorous supportive care in the neonatal intensive care unit.
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PMID:Favorable neurological outcome in 7 cases of perinatal intracranial hemorrhage due to immune thrombocytopenia. 206 23

Prader-Labhart-Willi Syndrome is a complex, multisystem sporadic disorder which presents during childhood and proceeds into adulthood. The major features include infantile hypotonia, developmental delay, hypogonadism with abnormal sexual maturation, mental retardation and behavior abnormalities, short stature with small hands and feet, massive obesity with diabetes mellitus, dysmorphic facial features, and marked dental caries and enamel hypoplasia. Recently, a deletion of chromosome 15 has been found in a large percentage of these patients, but the exact cause and genetic transmission has not yet been determined. Two cases of Prader-Labhart-Willi Syndrome are presented with emphasis on the differential diagnosis of enamel hypoplasia associated with sexual maturation.
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PMID:Prader-Labhart-Willi syndrome. 227 77

To determine whether vaginally born breech infants are at increased risk for morbid events as compared with breech infants delivered by cesarean, we studied 1240 singleton breech infants without congenital anomalies delivered in Northern California Kaiser Permanente Medical Care Program hospitals during 1976-1977. Medical record review provided information on indications for method of delivery, delivery complications and injuries, neonatal complications, and neurologic sequelae up to 4 years of age. The relative risk estimates for asphyxia (1.0; 95% confidence interval 0.7, 1.4), head trauma (1.6; 95% confidence interval 0.2, 17.0), neonatal seizures (0.8; 95% confidence interval 0.1, 7.1), cerebral palsy (1.6; 95% confidence interval 0.2, 17.4), and developmental delay (2.0; 95% confidence interval 0.9, 4.4) for vaginally born compared with cesarean-delivered infants indicated that vaginally born infants were not at increased risk for these outcomes. We used multiple logistic regression to control for confounding variables. The adjusted relative risk estimate for the combined-outcome category of head trauma, neonatal seizures, cerebral palsy, mental retardation, or spasticity was 0.5 in vaginally delivered infants (95% confidence interval 0.1, 3.2). When all morbid outcomes were considered in combination, the adjusted relative risk estimate was 0.9 for vaginally delivered infants (95% confidence interval 0.6, 1.4).
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PMID:Morbidity among breech infants according to method of delivery. 232 65

We recorded ABR in 65 infants and children with developmental retardation and analyzed the relationship between the incidence of abnormal findings and the degree of mental retardation, which was confirmed by follow-up observation and formal intelligence tests. There were 3 cases for whom no response could be obtained. In the 21 retardates with specific causes of retardation or complications, peripheral abnormalities were noted in 13 (62%) and central abnormalities in 11 (52%). The 41 cases of idiopathic retardates were divided into three categories according to the degree of mental retardation. Of 15 cases who were ascertained to be normal or borderline retardates, 3 (20%) showed some abnormal findings. Of 13 cases who were proven to be suffering from mild to moderate mental retardation, 5 (38%) showed abnormal findings. Of 13 cases who were confirmed to be suffering from severe to profound mental retardation, 5 (39%) showed central abnormalities. The high incidence of ABR abnormalities in retardates compared to in normal controls suggests that ABR measurement is a useful tool for evaluating infants who have possible developmental delay. It seems that disturbance of acoustic information processing can disturb language acquisition, and such a consideration is necessary for the education of children who show significant elevation of the response threshold.
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PMID:Auditory brain stem responses(ABR) in developmentally retarded infants and children. 242 72


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