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)

Disseminated angiokeratomas can be seen in patients with an inherited deficiency of alpha-l-fucosidase as well as in patients with classic Fabry's disease. Patients with deficiency of this lysosomal enzyme, or fucosidosis, have spasticity, mental retardation, and retardation of growth in addition to angiokeratomas. We herein report three new cases of this rare syndrome.
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PMID:Fucosidosis. 40 53

A 5 9/12-year-old Mexican female with argininemia presented at 4 years of age with severe growth retardation, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram. At follow-up, blood ammonia was elevated only twice out of 30 determinations. Blood arginine was 544 to 1,074 mumol/l (normal 61 to 173); cerebrospinal fluid arginine was 88 mumol/l (normal 6 to 29); and urinary arginine, citruline and argininosuccinic acid were consistently elevated. Arginase activities in tissues from the propositus were 0.01 mU/mg hemoglobin in erythrocytes (normal 29.8 to 96.1); 9 mU/mg protein in liver (normal 1,522 to 5,491); and 5 mU/mg protein in stratum corneum (normal 2,856 to 7,556). The demonstration of arginase deficiency in liver and stratum corneum suggests a generalized deficiency and helps to explain the elevation of blood arginine. Therapeutic trials of orally administered lysine to enhance dibasic amino acid competition and of enzyme replacement using erythrocyte transfusion did not result in significantly decreased blood arginine or clinical improvement.
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PMID:Arginase deficiency in multiple tissues in argininemia. 62 88

Group treatment of clumsy children is one part of a multidisciplinary management programme which is provided at The Adelaide Children's Hospital for children who have multiple handicaps. This study reviews 176 children who were referred for treatment. Clumsiness was the most common reason for referral. Not all children benefited from group treatment, and those who had significant degrees of mental retardation, or mild spasticity worsening on effort, needed individual handling. Movement training aims mainly to reduce physical clumsiness, and it is hoped that certain nonspecific benefits may result. The greatest improvement occurred in the ability to mix with others. Group counselling of parents, with a social worker as leader, is considered to have played an essential part in the management of these children's problems.
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PMID:The clumsy child: observations in cases referred to the gymnasium of the Adelaide Children's Hospital over a three-year period. 65 6

Similar movement disorders developed in two 8-year-old retarded children while they were receiving phenytoin. Seizures subsequent to a diphtheria-pertussis-tetanus immunization had developed in each child at 1 to 2 months of age. A static encephalopathy ensued, characterized by mental retardation, ataxia, spasticity, and a mixed seizure disorder. Intermittent dystonia and choreoathetosis developed insidiously while serum phenytoin concentrations were in the therapeutic range. Sustained dystonia and choreoatheosis developed 2 hours after an oral provocation with phenytoin. The baseline abnormalities on the electroencephalogram remained unchanged during the choreoathetosis. Recognizable metabolic abnormalities known to be associated with similar movement disorders were excluded. It was concluded from these studies that the movement disorder is secondary to phenytoin and can occur at therapeutic serum concentrations. Phenytoin is a central anticholinergic agent and a central stimulant of serotonin, and may induce movement disorders as a result of altering these neurotransmitters in the brain. The variable expression of these movement disorders may relate to the nature of the preexisting striatal insult.
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PMID:Phenytoin-induced dystonia and choreoathetosis in two retarded epileptic children. 94 1

The recurrent inhibition of alpha motoneurons was studied in 8 mentally retarded subjects (age 16-35 years), six of whom also had non-pyramidal or extrapyramidal motor alterations, manifesting as rigid and inflexible voluntary and/or postural movements. Despite a similar degree of mental retardation (Raven spatial general intelligence test), the other 2 cases showed much more modest changes in motor behavior. At rest, recurrent inhibition on soleus motoneurons was normal in all patients. In the 6 cases exhibiting more severe motor abnormality, the changes in Renshaw cell excitability, which occur during postural or voluntary contractions in normal subjects, were not found. This expressed the lack of supraspinal influences on Renshaw cells in these patients. On the other hand, supraspinal modulating influences on Renshaw cells were virtually normal in the remaining 2 patients. The absence of excitability changes of recurrent inhibition to postural or voluntary movements is discussed in relation to the abnormality of motor behavior observed in these patients. In addition, since paralysis of adaptive changes of recurrent inhibition has so far only been described in spastic subjects, the present study demonstrates that the descending pathways, which control recurrent inhibition gain, are different from those which, when damaged, lead to spasticity. Finally, our results indicate that the changes in motor behavior often associated with mental retardation cannot be regarded merely as the consequence of defective motor learning.
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PMID:Supraspinal influences on recurrent inhibition in humans. Paralysis of descending control of Renshaw cells in patients with mental retardation. 128 61

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 30007) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of corpus callosum and mental retardation. We confirm here the localisation of the mutant gene on Xq (Xq 2.8) by linkage analysis in a 5-generation pedigree (maximum lod score of Z = 4.57 at theta = 0.04 with probe St14 at locus DXS52) and emphasise the phenotypic variability of the disease. Ventricular dilatation in affected males was either severe and diagnosed antenatally or moderate and consistent with a long survival with little or no macrocephaly. Since other X-linked syndromes of mental retardation with spasticity and flexion deformities of the thumbs have previously been shown to map to the Xq 2.8 region as well (e.g. MASA syndrome and spastic paraplegia), the present results raise the question of whether H-SAS syndrome, MASA syndrome and spastic paraplegia with mental retardation might represent different phenotypic expression of various mutations at the same locus.
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PMID:X-linked hydrocephalus: clinical heterogeneity at a single gene locus. 139 13

This report describes a new syndrome of dysgenesis of corpus callosum with other anomalies, presenting as microcephaly, mental retardation, spasticity, and unusual facial appearance in 2 Chinese brothers and their maternal cousins. To date, there has not been any case reported in the Chinese population of this syndrome. All 4 patients in this report present with the same unusual face. Hydrocephalus and/or interhemispheric cyst were found among them. This syndrome is transmitted as an X-linked trait. The nosology is reviewed and discussed.
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PMID:X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family. 148 21

A 13-year-old girl with Fahr disease (infantile form) was reported. Her parents were consanguineous. Her elder sister had mental retardation and spasticity of the lower limbs, and died at 23 years of age. The patient suffered from infantile spasms at 3 month. She was bed-ridden, nonverbal, microcephalic and blind. Cranial CT revealed massive calcifications in the basal ganglia, periventricular white matter, dentate nucleus and cerebellar white matter. EEG showed a suppression-burst pattern. At 13 years, she died of pneumonia and hyperammonemia. Microscopic examination of brain showed perivascular non-arteriosclerotic ferro-calcinosis. The periventricular granules are 1-4 mu or 12 mu in diameter. This pathological change was observed only in the central nervous system above midbrain. No calcifications were found in the pituitary and the vessels of pia mater. Also a reduced ornithine transcarbamylase activity was found in the liver, which was probably not related with cerebral calcifications. Infantile form of Fahr disease is rare and may be heterogeneous in etiology. However, clinical manifestations and pathological findings were similar to those in previous reports of Fahr disease in childhood. It is one of the disorders causing infantile spasms.
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PMID:[An autopsy case of Fahr disease (infantile form)]. 152 May 12

The Lesch-Nyhan syndrome is a rare inborn error of purine metabolism caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which results in mental retardation with characteristic self-mutilation, spasticity, extrapyramidal signs and hyperuricaemia. The clinical and biochemical findings in an 18-month-old boy, who presented with renal calculi and was shown to have less than 1% of normal HGPRT activity, are reported. The obvious neurological abnormalities had previously been thought to be due to hypoxic-ischaemic encephalopathy. The expected incidence of this disease is much higher than the known number of cases diagnosed.
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PMID:The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report. 156 65

The authors report the second case of a female with typical Lesch-Nyhan syndrome. She exhibited athetoid movement, self-multilation, mental retardation and spasticity. Laboratory investigations revealed hyperuricaemia, hyperuricosuria and decreased erythrocyte hypoxanthine guanine phosphoribosyl transferase activity. She has normal female external genitalia and karyotype. Her parents are non-consanguineous and there is no family member with gout, nephropathy or any psychoneurological disorder. To prevent self-stimulation, it was necessary to fix the patient's upper extremities to the backrest of her wheelchair. The authors also describe an apparatus that limits elbow flexion.
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PMID:A female patient with Lesch-Nyhan syndrome. 161 15


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