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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 30-year-old man had signs of a lumbosacral skin plaque, called "shagreen patch", and mental retardation. He had been treated as genuine epilepsy for more than twenty years. Neither significant abnormalities nor facial angiofibroma (adenoma sebaceum) were detected on physical and neurological examinations. Brain CT revealed calcified subependymal nodules. A T2-weighted brain MRI presented high signal intensity regions affecting the cerebral cortex, which suggested tuberous lesions. Echocardiography showed high echoic lesions on the left ventricular wall and papillary muscles, suggesting calcification. The case was diagnosed as suffering from "forme fruste" of tuberous sclerosis. The three criteria typical of tuberous sclerosis (facial angiofibroma, seizure and mental retardation) were not satisfied. The "forme fruste" variant is less known, because the pattern of involvement varies, and it may clinically simulate genuine epilepsy.
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PMID:[A case of "forme fruste" of tuberous sclerosis having been treated as genuine epilepsy]. 782 Sep 71

We describe two brothers with mental retardation and refractory epilepsy. MRI revealed symmetrical agyria-pachygyria of the temporo-occipito-parietal regions, areas of deeply infolded polymicrogyric parietal cortex, and dilated occipital horns (colpocephaly). The stereotyped clinical, EEG, and MRI findings suggest that this may be a distinct inherited condition and imply that agyria-pachygyria with polymicrogyria is not always sporadic.
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PMID:Posterior agyria-pachygyria with polymicrogyria: evidence for an inherited neuronal migration disorder. 750 Nov 86

The advent of MRI technique has enabled the diagnosis of neuronal migration disorders(NMD) and made it possible to make "in vivo" diagnosis. Congenital bilateral perisylvian syndrome(CBPS) is a recently described disease identify characterized by pseudobulbar palsy, epilepsy, mental retardation, and migration disorders in the bilateral perisylvian area. We have identified four CBPS patients based on neuroimaging and dysarthria patterns among the candidates for epilepsy surgery. All the patients had orofacial diplegia and variable degrees of mental retardation. In the spectrographic analysis of dysarthria, the loss of specific characteristics of formants of vowels and increment of noise in the high frequency formants were observed. Epilepsy was present in all, but only one patient showed intractable seizure requiring surgical intervention. MRI was most helpful in identifying NMD and polymicrogyria in both centroparietal areas in this context. Great alertness is needed to identify this disorder to determine the etiology of epilepsy and dysarthria of uncertain origin.
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PMID:Congenital bilateral perisylvian syndrome: analysis of the first four reported Korean patients. 784 82

The authors report a 9-year-old girl with mid-facial hypoplasia, maxillary hypoplasia, prognathia, microbrachycephaly, mouth opening and protruding tongue. She also had psychomotor retardation such as mental retardation and speech delay. Frequent laughter fits and seizure disorder was also noted. Although the high resolution chromosome study failed to demonstrate any deletion of chromosome 15q, the clinical picture was compatible with Angelman syndrome. Breast development at the age of six and rapid progression of bone age was noted at follow up. After a series of examinations, the diagnosis of gonadotropin-dependent precocious puberty was made. MRI of brain revealed an intermediate cyst in the pituitary gland and slightly enlarged pineal gland. However, serum alpha-fetoprotein and beta-HCG were undetectable and the size of the pineal gland remained the same at the 1-year follow-up. She was treated with long-acting GnRH analogue and valproic acid. The combination of precocious puberty and Angelman syndrome has not been reported before and such association needs further experience for clarification.
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PMID:Precocious puberty in a case with probable Angelman syndrome. 794 14

We report 2 cases of lissencephaly and review the cardinal symptoms: microcephalia, mental retardation, pyramidal syndrome and generalized epilepsy. CT-Scan and MRI show the anatomical abnormalities of this malformation: microcephalia, smooth cortex reducing the surface of white matter and lack of sulci and gyri. The fact that the myelin is normal on MRI suggests that this major disorder of neuronal migration does not come from radial glial fibers.
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PMID:[Lissencephaly. Clinical, electroencephalographic and radiological aspects]. 802 67

Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of their children had either similar heterotopia (two girls) or severe pachygyria or lissencephaly (two boys). Laminar heterotopia was more evident on MRI T2 weighted images. The patients had mild to severe epilepsy and mental retardation depending on the extent of cortical abnormalities. In these families, subcortical laminar heterotopia, pachygyria, and lissencephaly seem to share the same X linked or autosomal dominant gene. No chromosomal abnormalities, especially of chromosome 17, could be identified. For appropriate genetic counselling of the family of a child with lissencephaly or subcortical laminar heterotopia, MRI should be performed in parents or siblings with mental retardation or epilepsy.
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PMID:Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. 805 13

One hundred and twenty three children with difficult to control epilepsy (DCE) were studied. Etiological factors which predominated included an age of onset less than 2 years (71.5%), male sex (69%), mixed, secondarily generalized, or complex partial seizures (77%), mental retardation (64%) and neurological abnormalities (52%). Static neurological disease was seen in 63%, with only 17% having idiopathic disease. Identifiable epileptic syndromes were noted in less than half the children. The surface EEG was abnormal in 84%, and correlated with the clinical seizure type in 81%. CT and MRI were helpful in diagnosis in only 38 and 48%, respectively, and even less so in therapy decisions, 7 and 16%, respectively. Prior therapy revealed the use of polytherapy in 61% and suboptimal dosages in 78%. In the 100 patients with adequate follow up, 67% showed a good response, i.e., 35% complete and 32% more than 50% reduction in seizures. Only 11% were total nonresponders, and most were severely retarded. Major treatment strategies employed included switching to monotherapy, supranormal dosages and avoidance of sedative anticonvulsants. Side effects were noted in 41% with 8 cases being life threatening. Overall mortality was 4%. We concluded that risk factors for DCE included early age of onset, mental retardation and certain seizure types. EEG was more helpful than neuroimaging. Treatment responses were favorable, especially in those with normal intellect and the use of normal or high dose monotherapy.
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PMID:Difficult to control epilepsy in childhood--a long term study of 123 cases. 807 11

Hemimegalencephaly is a rare disorder manifest by early epilepsy, mental retardation and hemiplegia. The neuropathology has been described in only 15 cases to date. The present case provides a further description of the pathology in a hemispherectomy specimen and shows unusual features, including cystic breakdown of the white matter possibly related to the long duration of the features, including cystic breakdown of the white matter possibly related to the long duration of the disease; the subject was 13 years older than previously documented cases. MRI findings were also unusual in showing mass effect and ventricular compression in the affected hemisphere, features not previously described in hemimegalencephaly.
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PMID:Unusual magnetic resonance and neuropathological findings in hemimegalencephaly: report of a case following hemispherectomy. 815 58

From 1982 to 1991, there were 57 patients diagnosed with various intracranial disorders manifested initially with acute hemiplegia at the Department of Pediatrics, National Taiwan University Hospital. There were 33 boys and 24 girls, aged 12 days to 18 years old. In etiological consideration, cerebrovascular disease (66.7%), intracranial tumors (12.3%) and head trauma (10.5%) accounted for most of the cases. Besides acute hemiplegia, cranial nerve palsy (47.4%), disturbed consciousness (42.1%), headache (42.1%), vomiting (31.6%), focal seizure (21.1%) and fever (21.1%) were also common manifestations. Neuroimage studies of CT/MRI scan and angiography were the most useful diagnostic tools. Treatment modalities included medical treatment in 25 patients and surgical intervention in 16 patients and supportive treatment in the others. There were 12 fatal cases, half of whom died directly of intracranial pathology. The survivors exhibited various neurological deficits, in which motor deficits, mental retardation, and subsequent seizures were the three most common sequelae.
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PMID:Acute hemiplegia in infancy and childhood. 817 42

Two female cases, 23- and 21-year-old, of supravalvular aortic stenosis associated with cerebellar hypoplasia, retinitis pigmentosa and myopathy were reported. No family history of mental retardation and cardiovascular anomalies was found. There was no consanguinity between the parents. Pregnancy, labor and delivery were reported to be uncomplicated. When they visited to our hospital at the age of 13 and 11 years, they had short stature, characteristic facial appearance (eg, wide mouth, elongated philtrum, low nasal bridge and broad forehead) and supravalvular aortic stenosis. Neurological examination disclosed mental retardation, retinitis pigmentosa, muscle wasting and contracture of bilateral knee and ankle joints. Gait was unsteady and bradykinetic. Their smooth pursuiting ocular movements were saccadic. No nystagmus was recorded. Mild intention tremor was present. The muscles were slightly hypotonic, but deep tendon reflexes were hyperactive in the lower extremities. The sensory system was normal. Results of chromosome analysis and urine amino acid analysis were normal. The serum creatine kinase was elevated to 1,000-3,000 U. Muscle biopsy revealed nonspecific myopathic changes such as variability of fiber diameter in both fiber types. Neither cell infiltration nor deposits of fat or glycogen was found. Cranial MRIs performed at the age of 22 and 20 years disclosed cerebellar hypoplasia and moderate enlargement of the fourth ventricle. The two cases resembled clinically those of Williams syndrome, but the MRI findings were not consistent with those of the syndrome. The disorder is considered to be either Williams syndrome complicated by some other relatively rare clinical features, or another heredofamilial disease partly resembling Williams syndrome.
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PMID:[Myopathy, cerebellar ataxia and Williams syndrome like features in siblings]. 819 69


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