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)

We report a 6-year-old girl with diffuse subcortical heterotopia (band heterotopia), an unusual type of ectopic gray matter on magnetic resonance imaging (MRI). Her cerebral parenchyma had four layers consisting of cortex, thin outer white matter, diffuse subcortical heterotopia, and inner white matter around the lateral ventricles, giving the appearance of a 'double cortex'. The overlying cortex had midly broad gyri, especially in the frontal lobes. MRI showed the appearance of laminar heterotopia, a classical pathological entity. The double cortex syndrome is presumably a radiological delineation of laminar heterotopia. Her development was slightly delayed and she was clumsy and easily upset, with poor impulse control. However, her daily life was largely unaffected in spite of the severe abnormalities on MRI. She had abnormal movements during sleep, and sleeping EEG showed high voltage spindles in the bilateral frontal areas but no epileptic discharges. It could not be determined whether or not these movements were epileptic. The double cortex syndrome, an anomaly of the central nervous system associated with mental retardation, epilepsy, behavioral problems, and exclusive occurrence in girls, will be established as a clinico-radiological entity.
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PMID:The 'double cortex' syndrome on MRI. 833 12

A 33-year-old woman, whose parents were consanguineously married, was admitted to our hospital because of progressive difficulty in walking and hoarseness in speech. She had been in good health as a child, at age 16 ulcerations appeared on the skin of feet, and have been recurrent. AT age 22, bilateral cataracts were removed. From the age of 26 years, the deformities in the toes and fingers worsened and she had difficulty in walking. At age 32, hoarseness was noticed. The patient was a diminutive woman and the skin was dry, thin and hyperpigmented. The neurological examination revealed mental retardation, spastic paraparesis and polyneuropathy. Electrophysiological studies revealed a slowing of central and peripheral nerve conduction. Sural nerve biopsy revealed a significantly higher incidence of de- and remyelination and a loss of myelinated fibers. These data suggest that the central and peripheral nervous systems are affected in Werner syndrome.
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PMID:[A case of Werner syndrome associated with spastic paraparesis and peripheral neuropathy]. 839 17

We report on a girl with short stature, mental retardation, mutism, "coarse" facial appearance, and papillary-follicular thyroid carcinoma. She had dup(20p) derived from a paternal balanced translocation [(12p;20p)]. We speculate that the carcinoma in our patient may be related to the deletion of material from 12p resulting in absence of genetic material normally required for the suppression of thyroid tumorigenesis.
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PMID:Duplication (20p) in association with thyroid carcinoma. 841 51

DiGeorge syndrome (DGS) is predominantly caused by partial monosomy 22q11, but a subset of patients with DGS show deletions of 10p or other chromosomal abnormalities. The authors describe a 20 months old girl with DGS and a monosomy 10p bringing the number of DGS patients with this chromosomal abnormality to nine. She has a monosomy 10p13-pter and a trisomy 10q26-qter due to a meiotic recombination of a maternal inversion (10) (p13q26). The proposita's phenotype demonstrates typical features of the del (10p) syndrome which include mental retardation, abnormally shaped skull, hypertelorism, low nasal bridge, micrognathia, dysmorphic low set ears, short neck, foot abnormalities, and cardiac defect. The diagnosis of DGS was made unequivocally within the first weeks of life because of the typical features-cardiac defect, hypoplastic thymus, T-cell defect, hypocalcemia, and hypoparathyroidism. The common DGS mutation-microdeletion 22q11-was excluded by FISH analysis, and the breakpoints on chromosome 10 were mapped between D10S189 and D10S191 on the short arm and proximal to D10S25 on the long arm.
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PMID:DiGeorge syndrome and partial monosomy 10p: case report and review. 854 Jun 88

We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but without mental retardation. She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohydrotic skin, and characteristic facial traits. To our knowledge, this is the first case of CFC syndrome without mental retardation but typical cutaneous findings.
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PMID:Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation. 872 90

We report on a 15-year-old girl with mental retardation, obesity, short stature and minor anomalies. She had 47 chromosomes with a minute extra ring which was identified by FISH to be derived from chromosome 17.
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PMID:Identification of a supernumerary marker derived from chromosome 17 using FISH. 884 6

A full-term female neonate presented with facial port-wine stain, cutaneous telangiectasia, left facial hemihypertrophy, and left hemimegalencephaly at birth and subsequently developed hypertrophic change of left limb. She fit the diagnostic criteria of Klippel-Trenaunay-Weber syndrome. However, it was an unusual variant of this syndrome because the patient had left facial hemihypertrophy, left hemimegalencephaly and ipsilateral ventriculomegaly. Although patients with hemimegalencephaly are commonly thought to be associated with neurological defects, such as developmental delay, mental retardation and intractable seizure, she had normal neurological development and no seizure was detectable until two years of age.
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PMID:Klippel-Trenaunay-Weber syndrome with hemimegalencephaly: report of one case. 893 15

Tuberous sclerosis is a hamartoneoplastic syndrome characterised by early onset of convulsive seizures with mental retardation. Oral abnormalities, including enamel hypoplasia and mucosal fibromas, have been previously reported. We report here a 17-year-old girl with this disorder who had received repeated dental trauma. She presented with a swelling associated with a traumatised maxillary central incisor that suggested a diagnosis other than the odontogenic myxoma found at operation. Odontogenic myxoma has not previously been reported in this condition; it may represent an unusual phenotypic expression of the genetic defect understood to determine tuberous sclerosis, or it may be an unrelated coincidental finding.
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PMID:Odontogenic myxoma in an adolescent with tuberous sclerosis. 925 Sep 35

We report an autopsy case of Cockayne syndrome (CS). A 40-year-old Japanese woman was admitted to our hospital for cachexia. She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood. Endocrinological examinations suggested normal pituitary function and a disorder of the hypothalamus or the cerebrum. She died of acute pneumonia at the age of 42. Autopsy findings showed typical abnormalities in the central nervous system compatible with CS; however, no atherosclerotic change was observed in the systemic arteries.
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PMID:An adult case of Cockayne syndrome without sclerotic angiopathy. 926 Jul 74

We report on clinical and MR findings in a woman with a peculiar disease. She was studied from childhood to adulthood. She showed several anomalies affecting structures of ectodermal and mesodermal origin. Specific defects included right cerebral and cerebellar hypoplasia, right cerebral cortical polymicrogyria, agenesis of the corpus callosum, right micro-ophthalmia and cataract, right breast hypoplasia, right upper and lower extremity hypoplasia, bilateral acral alterations affecting especially the middle phalanges, left hemifacial hypoplasia (probably secondary to the severe contralateral cerebral hemisphere lesion), mental retardation and partial epilepsy. MR disclosed right cerebral and cerebellar hypoplasia, right cerebral cortical polymicrogyria, agenesis of corpus callosum and right micro-ophthalmia. She did not exhibit either orbital cysts or cutaneous abnormalities. The complex symptomatology of unknown origin presented by this patient suggests a new developmental malformation consisting in hypoplasia of a complete hemibody.
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PMID:Unilateral somatic and intracranial hypoplasia. 945 35


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