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

A 10-year-old girl with developmental delay, mental retardation and intractable seizures is reported. She manifested clinically as Lennox-Gastaut syndrome with unknown etiology before admission. Brain MRI revealed a band-like lesion over the bilateral subcortical region being later recognized as band-form heterotopia. This type of heterotopia may be overlooked easily due to its symmetrical distribution and mild degree of cortical convolutional anomaly. As it is often associated with intractable seizures and psychomotor retardation, the prognosis is poor. This patient responded poor to ketogenic diet and anticonvulsants. We present this case and review the related articles.
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PMID:[Lennox-Gastaut syndrome with band form heterotopia: a case report]. 165 45

Twenty-seven children, who had deep white matter hyperintensity in the occipital lobe (DWMH) on T2-weighted MRI, were classified into two groups, mild and severe, based on the signal intensity. The frequency of mild DWMH, which was iso-or hyperintense relative to the gray matter but hypointense relative to cerebrospinal fluid (CSF), decreased with aging; mild DWMH might result from a delayed myelination in the central nervous system. However, the frequency of severe DWMH, which was iso-or hyperintense relative to CSF, was not related to aging and was significantly high in severely retarded children. Therefore, severe DWMH might be a new indicator of mental retardation in children.
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PMID:[Deep white matter hyperintensity in the occipital lobe on T2-weighted MRI in children. II. Classification based on the signal intensity]. 173 28

Neurological manifestations of xeroderma pigmentosum, a rare autosomal recessive neurocutaneous syndrome, are variable. The association with progressive mental retardation, usually with onset in childhood, is well known. We present a case of x.p. with progressive presenile dementia. This combination has, to our knowledge, not yet been reported in the literature. Although no hints on another aetiology have been found, the coincidental combination of x.p. with M. Alzheimer has to be taken into consideration. CT scan and MRI showed a marked cerebral atrophy.
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PMID:[Presenile dementia in xeroderma pigmentosum]. 174 55

A 40-year-old man was hospitalized for tremor of the right upper limb, gait disturbance and dysarthria. His course of development had been normal until the age of 14, when difficulties in speaking and walking, and tremor of the upper limb became evident following an episode of fever. His symptoms have been gradually worsening for the past 25 years. His elder sister showed similar clinical symptoms and progressive course of illness. The patient showed no indication of mental retardation. Neurological examination showed dysarthria, slow dyskinetic movement of the tongue, dystonic posture of the left hand, tremor of irregular frequency of the right upper limb, diminished tendon reflex, positive Romberg's sign, diminished vibratory and position sense in the lower limbs and pyramidal signs. Cystometry indicated defective voiding of the bladder. Magnetic resonance imaging of the brain showed bilateral atrophy of the putamina, globus pallidus, caudate nuclei and substantia nigra. MRI showed similar findings in her sister. By electrophysiological and pathological examination, disorders of other systems were evident, such as upper motor neurons, and sensory tract. GM1 and GM2 gangliosidosis appeared the most likely diagnosis, but were ruled out on the basis of the result of lysozomal enzyme assay and rectal biopsy. The present patient's condition may possibly be the result of an unknown metabolic disorder, or a new disease entity affecting various components of the nervous system.
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PMID:[Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI]. 176 49

To evaluate the correlation of clinical symptoms and deletion of mitochondrial DNA (mtDNA) in CPEO, we examined brain MRI, lower limb SSEP and mtDNA in 19 patients (nine men, ten women) with CPEO averaging 44.9 years of age. Of these patients, three had typical Kearns-Sayre syndrome (KSS) as defined by the presence of the invariable triad of CPEO, retinitis pigmentosa and an onset before the age of 20, as well as at least one of the followings: heart conduction block, cerebellar ataxia and elevated CSF protein. One patient was diagnosed as having probable KSS because the symptoms had begun at the age of 33. All patients with typical and probable KSS had one or more of the following common manifestations: mental retardation or dementia, hearing loss, short stature, and endocrinological disorder. All other 15 patients had ocular myopathy with limb muscle weakness. Total DNA was isolated from 19 biopsied muscles, and analyzed by the methods of Southern blot hybridization and PCR. Thirteen patients has heteroplasmy with the deleted and normal mtDNA, and six patients who had ocular myopathy did not have mtDNA deletion. The age of onset in the patients with mtDNA deletion averaged 23.0 years of age, while that without mtDNA deletion averaged 39 years of age. All KSS and two ocular myopathy patients shared the common site in mtDNA deletion, while nine with ocular myopathy showed the different sizes of deletion ranging from 2.3 to 9.5 kb in the different sites. Brain MRI was obtained from 12 of the 19 patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Chronic progressive external ophthalmoplegia (CPEO); mitochondrial DNA deletion, brain MRI and electrophysiological studies]. 176 62

The concurrence of gelastic (laughing) seizures, hypothalamic hamartoma and precocious puberty constitutes a well defined epileptic syndrome in children; moreover mental retardation, neuropsychological deterioration and behavioral disorders have been often observed in these patients. In two cases we studied by means of MRI the appearance and the site of the hamartoma (in the posterior part of the hypothalamus with extension toward the third ventricle). The EEG study was performed by means of repeated recordings, of Computed EEG Topography (CET) and of Ambulatory EEG (A-EEG): in both patients during interictal periods paroxysmal EEG discharges prevailing in temporal or fronto-temporal regions and slight abnormalities of the background activity in the same areas were detected. Laughing seizures were recorded in each patient particularly by means of A-EEG: in case 1 bursts of high-voltage activity ("theta" waves) followed by depression of the background rhythm and by irregular spike discharges located in left temporal region were observed; in patient 2 irregular generalised spike discharges followed by slow waves or by depression of the background activity were seen. The presence of local abnormalities in both patients can support the hypothesis that the cortex, especially of the temporal anterior lobe, is involved in the origin of the laughing seizures. The significance of the mechanisms of secondary generalization as regards the seriousness of the epilepsy and of the mental impairment in these patients is also suggested.
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PMID:[Epilepsy with laughing seizures, hypothalamic hamartoma and precocious puberty. Contributions of MRI, computed EEG topography (CET) and ambulatory EEG (A-EEG)]. 179 7

The neuropsychological performances, outcome of epilepsy and MRI topography of tubers of 23 children with tuberous sclerosis were reviewed. Seven children had normal intelligence, 10 had mental retardation, and six mental retardation and autism. An adverse association was found between the number of lesions and IQ, behaviour and severity of epilepsy. Posterior lesions, in addition to frontal-lobe dysfunction, were observed in children with autism. Tuberous sclerosis with well-defined cerebral lesions may represent a model for the relationship between different neuropsychiatric problems.
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PMID:Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings. 191 24

Diffuse neuronal migration disorders associated with epilepsy can now be recognized by modern neuroimaging techniques, particularly high-resolution MRI. We report 10 patients with a recently described MRI picture of continuous or generalized band heterotopia underlying the cortical mantle, giving the appearance of a "double cortex." They have epilepsy, and almost all have mental retardation. The epileptic disorder varies in nature and degree of severity. Patients may present with infantile spasms, a Lennox-Gastaut syndrome, or other forms of secondary generalized or multifocal epilepsy. Response to medical treatment is variable. Callosotomy may lead to considerable reduction of drop attacks, present in 60%. Mental retardation is usually mild or moderate, and only rarely severe. It correlates with the type of epileptic syndrome, and is greater in patients with more disorganized cortex overlying the heterotopia. Recognition of this entity by MRI is important for appropriate diagnosis of the epileptic disorder, planning of therapeutic strategy, and prognosis.
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PMID:Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients. 192 11

An offspring of a class F diabetic primigravida with marginal control during the first 8 weeks of the gestation had a level II sonogram at 23 weeks. It showed polyhydramnios and "hydrocephaly." Macrosomia, right hydroureter, megacystis and premature birth corroborated the diagnostic impression of diabetic embryopathy. At age 3 years, the child functions within the moderate range of mental retardation. Angiography, choanogram, CT and MRI scans showed unique CNS abnormalities that appeared secondary to a hamartomatous growth within the left cerebral hemisphere. Such anomaly, most likely a part of the phenotype of the diabetic embryopathy, implies a growth disturbance secondary to dysregulated paracrine growth factors (somatomedins, nerve growth factor, panregulin and/or their receptors in this case). It also indicates a possibility of interaction between two dysregulated major growth mechanisms; the endocrine in the mother considered responsible for the overall phenotype of the diabetic embryopathy/fetopathy and the paracrine fine tuning mechanism in the embryo incriminated by the hamartomatous over/undergrowth.
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PMID:Unique brain anomalies in an infant of a diabetic mother. 202 82

Spinal epidural abscesses are rare, accounting for only 0.2-1.2 of every 10,000 hospital admissions. Because they often present with non-specific symptoms, they are frequently misdiagnosed. We present a case in which superconduction MRI was used to make the diagnosis and to follow the clinical course of a spinal epidural abscess. In December 1988, a 33-year-old male developed spiking fever and the sudden onset of torticollis. He had had a cerebral palsy from birth, with chronic tetraparesis and mental retardation. Isolation of staphylococcus aureus in urine and blood cultures confirmed the diagnosis of pyelonephritis and septicemia. A high fever persisted despite antibiotic therapy commenced immediately. A technetium 99 m scan showed a localized uptake of isotope in the cervical spine. An MRI examination performed in the following day under sedation showed a mass with the same signal intensity as muscle on T1-weighted images. It was located behind the vertebral bodies C1-Th1 compressing the spinal cord. In addition, a lesion with a decreased signal was also evident in the C5-C6 vertebral bodies. Because of torticollis, the patient was unable to keep his head still for a sufficient period of time, to obtain T2-weighted imaging. The MRI findings indicated the presence of a spinal epidural abscess and osteomyelitis. A second MRI done one month after admission showed a reduction in the size of the epidural mass, but further diminishing of the signal intensity of the vertebral lesion. One month later, the patient underwent the surgical removal of the pus and inflammatory soft tissue, and anterior fusion. The torticollis resolved following the operation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Spinal epidural abscess as the cause of torticollis--diagnosis by magnetic resonance imaging]. 204 5


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