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)

Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers-Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.
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PMID:A distinct variant of the Ehlers-Danlos syndrome. 51 6

A patient with Proteus syndrome is reported. He had hemihypertrophy, bilateral hypertrophy of the third fingers, skin anomalies, and varicosities, as well as mental retardation, seizures resistant to anticonvulsant treatment, and a very severe course with death at the age of 2 years.
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PMID:Proteus syndrome: report of a case with severe brain impairment and fatal course. 235 6

To determine the effects of increased cerebrospinal fluid (CSF) pressure on neuronal morphology, obstructive hydrocephalus was induced by injecting kaolin into the fourth ventricle and cisterna magna of 1-day-old rats. The animals were sacrificed 10 to 12 days later, at which time severe ventriculomegaly and cortical thinning were apparent in the parieto-occipital region. Tissue from this area was processed by rapid Golgi methods. Well impregnated pyramidal neurons were examined by light microscopy, and their somatic and dendritic features compared to those of age-matched littermate controls. The somata of medium pyramidal neurons were unaffected, but their basilar dendrites had fewer branches and those that remained were shorter. A variable reduction in dendritic spines occurred, such that some branches were totally denuded while others exhibited spine densities similar to those seen in control animals. The most striking alteration was the occurrence of frequent dendritic varicosities. These enlargements of the dendritic shaft separated by extremely thin constrictions gave the affected segment a beaded appearance. Both dendritic spine loss and varicosity formation were most notable on distal portions of individual branches and within regions of the dendritic tree closest to the ventricular and meningeal surfaces. These alterations are consistent with other reports of dendritic changes associated with aging, mental retardation, and alcohol exposure. These observations suggest that hydrocephalus causes dendritic deterioration or retardation of dendritic maturation. The fact that neuronal morphology was not more severely affected may indicate that these effects are reversible.
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PMID:Neuronal effects of experimentally induced hydrocephalus in newborn rats. 405 81

A 49-year-old woman with Klippel-Trenaunay-Weber syndrome (KTW) is reported. She had characteristic features of KTW; cutaneous angiomas on her back, left knee and both plantae, varicosities on both legs, and hypertrophy of the left leg. In addition she had rare complications of KTW; asymmetric skull bone, hemicranial hypertrophy, kyphosoliosis, idiopathic hypoparathyroidism, and abnormal length of the dactyl. Her hemicranial hypertrophy was examined by CT scan, MRI and angiography. Her right hemicranial volume was enlarged and her left lateral ventricle was enlarged. The T2-weighted MRI imaging demonstrated high signal intensity beside the right lateral ventricle and in the right basal ganglia. Cerebrovascular anomalies were not revealed. She also had neurological manifestations of KTW that are rarely seen in adult cases; mental retardation, and myelopathy. The anti-HTLV-I antibodies in serum and cerebrospinal fluid were positive, so it was thought for her to have HTLV-I associated myelopathy (HAM). She was treated with peroral prednisolone and alpha-interferon (intramuscular), which improved her ability to walk. It is known that kyphosis sometimes makes the disorder of spinal cord. Although KTW is known to be associated with the spinal arteriovenous malformation, several examinations did not reveal the spinal vascular anomalies in this case. So we think the myelopathy of this case was caused mainly by the kyphoscoliosis and HAM.
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PMID:[A case of Klippel-Trenaunay-Weber syndrome--special reference to myelopathy]. 825 27

In 1977 Harrod et al. [BD:OAS XIII (3B): 111-115] reported 2 brothers with an unusual syndrome of mental retardation, unusual facial appearance, large protruding ears, arachnodactyly, hypogenitalism, failure to thrive, and minor anomalies. We report on a 46-year-old man with striking resemblance to the children described by Harrod who also has secondary megacolon and varicose veins, suggesting a connective tissue disorder.
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PMID:Additional case of craniofacial and digital anomalies as reported by Harrod et al. 866 46

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by rod-cone dystrophy, polydactyly, central obesity, mental retardation, and hypogonadism. Although many organs are involved in BBS, hyperammonemia caused by portal hypertension has been reported previously in only a single patient. We describe the second such patient with BBS and hyperammonemia, associated with fluctuating mental impairment. The patient was a 17-year-old boy with BBS. Esophageal, gastric, and rectal varices and mild hepatic dysfunction started to develop at 5 years of age. A liver biopsy showed dilated portal veins with mild fibrosis in portal tract. From the age of 17 years, he often had forced laughter with apparently normal consciousness. Laboratory examinations revealed hyperammonemia (112.2mg/ml). Oral medication lowered the blood ammonia level to 69.9 mg/ml, reduced the frequency of forced laughter, and improved his IQ. Patients with BBS may have additional diseases or conditions that affect mental status, such as hyperammonemia. Physicians should explore the underlying causes of these conditions and treat such patients, who already have a compromised quality of life.
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PMID:Treatable fluctuating mental impairment in a patient with Bardet-Biedl syndrome. 1893 27