Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 12 year-old boy was referred because of general weakness, enuresis and pallor which had been present for at least six months. Previously, the child had been hospitalized at the age of five, because of mental retardation and hepatosplenomegaly, for which no cause could be found. He had severe renal insufficiency, with all the hallmarks of nephronophthisis. In addition his vision was very poor and fundoscopy revealed tapetoretinal degeneration. The liver and spleen were grossly enlarged. Liver function was almost completely normal, but histology showed diffuse periportal febrosis with profiferation of the bile ducts. This observation seems to confirm the existence of a new syndrome, associating nephronophthisis and liver fibrosis as described by Boichis and coworkers (1973).
 ...
PMID:Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. 114 38

An unusual association of Bardet-Biedl syndrome with cystinuria was described in one patient. A 21-year-old male was admitted to hospital because of renal failure, severe deterioration of visual acuity, polydactyly, brachydactyly, and mental retardation. Laboratory investigations revealed a serum creatinine of 292 mumol/L (3.3 mg/dL) and a GFR of 25 mL/min per 1.73 m2. Quantitative ion exchange chromatography demonstrated an increased urinary excretion rate of cystine, lysine, arginine, and ornithine. The ophthalmologic examination showed a severe atypical retinal dystrophy. Visual acuity was severely deteriorated and the patient could only count the examining physician's fingers. The patient had been previously evaluated at the age of 7 years for polyuria, polydipsia, and growth failure. His workup at that time demonstrated nephrogenic diabetes insipidus, normal GFR, and a urinary amino acid pattern consistent with the cystinuric phenotype. There was mental retardation notwithstanding the normal ophthalmologic examination. Intravenous pyelography showed calyceal clubbing, calyceal cysts, and lobulated renal outlines of the fetal type. The patient was evaluated again at the age of 13 years for deterioration of visual acuity and the ophthalmologic examination showed an atypical retinal dystrophy, with sparse pigmentation, central and peripheral atrophy, attenuated vessels, and marked optic disk pallor. To our knowledge the association of Bardet-Biedl syndrome with cystinuria has never been reported. It is unlikely that cystinuria may have contributed to the kidney damage. The possibility that mental retardation has been induced or aggravated by cystinuria cannot be excluded.
 ...
PMID:Bardet-Biedl syndrome and cystinuria. 146 12

Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a characteristic facies. We examined 22 children with CDLS to ascertain the relative frequencies of oculofacial and ophthalmologic abnormalities. We confirm prior reports of the frequent findings of brow hypertrichosis, synophrys, and long arcuate eyelashes. In addition we documented the association with ptosis, nystagmus, and high myopia. Contrary to previous reports, we did not find blue sclera or corneal, pupillary, or retinal disorders to be part of this syndrome. Hypertelorism and telecanthus were found, but they were dependent on the method of calculation. Two children had optic nerve pallor. We also report the new findings of poor macular reflex, chin lifts induced by ptosis, hypertropia, and nasolacrimal duct fistula.
 ...
PMID:Ophthalmologic findings in the Cornelia de Lange syndrome. 234 18

An ophthalmic evaluation was undertaken in 250 consecutive cases of mental retardation where no specific etiological diagnosis could be established, ie, "idiopathic" mental retardation. Visual impairment was noted in 59 of these patients, and was mainly due to primary optic atrophy, besides cortical blindness, strabismus, nystagmoid eye movements, refractive errors and various associated congenital ocular anomalies. It was encouraging to find that 191 children had active vision, including 10 patients with definite disc pallor. The importance of useful vision in these retarded children cannot be overemphasized. This is probably the first report in the literature analyzing the ocular changes and their significance in a fairly large series of idiopathic mental retardation.
 ...
PMID:The eye in idiopathic mental retardation. 358 8

Periventricular leukomalacia (PVL) usually is manifested as discrete foci of coagulation necrosis of the deep periventricular white matter in the human neonatal brain. During the examination of the brains of 116 infants utilizing an oil red O technic on gelatin-embedded frozen sections, 25 cases of PVL were found with typical foci of coagultion necrosis. Three morphologic varieties of the lesion could be demonstrated. In the first type, rather than being restricted to the periventricular zone, the discrete necrotic foci extended throughout the entire zone of cerebral white matter, even out to just beneath the cortex. The subcortical lesions appeared of short duration, whereas older lesions were always present nearer the ventricle. The second type of lesion presented as linear, some-what serpentine zones of coagulation necrosis radiating into the cerebral white matter. A third type of lesion consisted of a variegated irregular coagulation necrosis which was poorly delineated from more normal tissue. Diffuse pallor of the white matter, the nature of which is still not clear, was associted with the more severe lesions. Although the pathogenesis of PVL is unknown, it is suggested that these new varieties of PVL beyond the discrete periventricular foci of necrosis would be more apt to result in a diffuse loss of white matter and hence mental retardation if the child should survive.
 ...
PMID:Morphologic variations in periventricular leukomalacia. 481 3

Ocular manifestations in two cases of congenital muscular dystrophy of Fukuyama type were reported. This disease is characterized by early onset of hypotonia, generalized muscle weakness and atrophy, mental retardation, and elevated serum creatine-phosphokinase activity. The symptoms include entropion of lower lids, pathological myopia with astigmatism, optic nerve pallor, and irregular grayish subretinal mottling. Case 1 showed additional features of posterior staphyloma, dragged papillomacular vessels, peripheral grayish-white discoloration of the retina, and rete mirabile as well as abnormal vascular anastomosis.
 ...
PMID:Ocular manifestations of congenital muscular dystrophy (Fukuyama type). 665 Nov 32

Twenty infants aged 2 weeks to 3 months with the diagnosis of bleeding disorder secondary to low prothrombin complex level were studied. Sixty children of the control group were matched to the cases by age +/- 2 weeks, sex and race. The ratio of boys to girls was 2.3:1. The median, mean, and range of age of the cases and controls were 43.5 days, 43.7 days, 21-73 days and 43.5 days, 46.8 days, 26-28 days respectively. Most of them were pale with a mean hematocrit of 23.55%. The partial thromboplastin time and prothrombin time were markedly prolonged. The means of vitamin K dependent coagulation factors II, VII, IX and X were 1.10%, 5.87%, 2.86%, and 4.47% of adult activity, respectively. The clinical manifestations related to the bleeding of the cases were drowsiness and convulsion (95%), pallor (85%), and apparent bleeding (10%). The sites of the bleeding were demonstrated in the cranial cavity (95%), gastrointestinal tract and oral cavity (15%), and skin (5%). Nineteen patients with intracranial hemorrhage had bleeding in the subdural space (79%), intracerebral (42%), intraventricular (32%), and subarachnoid space (5.2%). The mortality rate and permanent brain damage occurred in 10% and 45%, respectively. Only 45% of the cases recovered normally. The permanent neurological sequelaes were hemiparesis (44.4%), microcephaly (33.3%), convulsive disorder (33.3%), mental retardation (33.3%), spasticity (22.2%), and hydrocephalus (11.1%). Breast feeding alone up to the day of study (OR = 7.0, p < 0.005) was found to be a significant risk factor for bleeding in these infants.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Risk factors of bleeding diathesis secondary to low prothrombin complex level in infants: a preliminary report. 788 52

Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1. We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy. In both children neuroimaging detected a progressive cerebellar involvement accompanied by basal ganglia hyperintensities and pathological peak levels of lactate. In both patients, muscle biopsy showed diffuse reduction of cytochrome c oxidase stain, some atrophic fibers and type II fiber grouping. Using a targeted resequencing panel in next generation sequencing, we identified the homozygous c.1180G>A/p.Ala394Thr mutation in Pt1 and the c.2779-2A>C mutation in compound heterozygosity with the c.2809C>T/p.Arg937Cys mutation in Pt2. All variants were novel and segregated in the healthy parents. Expression of OPA1 protein was significantly reduced in muscle tissues of both patients by Western blotting. We also observed in patients' fibroblasts a higher proportion of fragmented and intermediate mitochondria upon galactose treatment compared to controls, as already seen in other patients harboring mutations in OPA1. The presence of Leigh-like neuroimaging features is a novel finding in Behr syndrome and further adds to the complex genotype-phenotype correlations in OPA1-associated disorders.
 ...
PMID:Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. 2882 24

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6&#x00A0;years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present. Hypogonadism and renal involvement occur in about 40%, mental retardation in about 50%, and truncal obesity in about 70%; it is present early, along with insulin resistance, type 2 diabetes, dyslipidemia, and hypertension. Vision becomes markedly impaired by about age 30&#x00A0;years. The BBS is genetically heterogeneous entity with considerable phenotypic variability. Other associated problems include CNS-related ataxia, abnormal gait, and facial hypotonia, as well as anomalies such as high palate, hearing loss, and cardiac malformations. In males, there is oligospermia, leading to infertility. Around 50&#x2013;80% of BBS patients have renal malformations (like cyst, agenesis or scarring) and renal dysfunction leading to end-stage renal disease. There are no pigmentary changes before the age of 1&#x2013;2&#x00A0;years. Later, subtle pigmentary changes appear in the macula or peripapillary area. Several years later, pigments appear in the equatorial region, along with attenuation of retinal blood vessels and waxy pallor of the optic disc. Eventually, the macula may show atrophic changes (Figs. 33.1, 33.2 and 33.3). Electroretinography (ERG) shows involvement of rods and cones and is abnormal even before the fundus shows changes. A perimacular hyperfluorescent ring can be seen.
 ...
PMID:Ciliopathy: Bardet-Biedl Syndrome. 3057 6

Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation in the THRA gene was detected at mutation analysis. A 4-year-old male patient was admitted due to short stature, motor-mental retardation, and constipation. At physical examination, coarse facial appearance, eyelid edema, pallor, and umbilical hernia were observed. Primary thyroid hormone resistance should be considered in patients with phenotypically hypothyroid features. Laboratory analysis found moderate elevation in free triiodothyronine (T3) levels, normochromic normocytic anemia, and elevated creatine kinase levels. In conclusion, THRA gene mutation should be considered in patients with clinical hypothyroid findings and increased/moderately elevated free T3, decreased/ normal free thyroxine, normal thyroid-stimulating hormone levels, and increased muscle enzymes.
 ...
PMID:A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance. 3074 12


1 2 Next >>