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

The authors report a case of a 5 months old female child with clinical features of Aicardi syndrome: agenesis of the corpus callosum, occular abnormalities ("chorioretinal lacunae" and microphthalmus), infantile spasms, mental retardation, vertebral malformations and thoracic deformity. The pacient was submitted to complementary examinations that confirmed the diagnosis. The neuroradiologic images (MRI) showed besides corpus callosum agenesis a tumor located at the left ventricular atrium (choroid plexus papilloma). This association is a rare occurrence and the present case is the seventh described in literature. Furthermore, we suggest that the choroid plexus pappilloma could be a characteristic tumor of the Aicardi syndrome.
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PMID:[Aicardi syndrome and choroid plexus papilloma: a rare association. Case report]. 898 93

We reviewed the neuroimaging studies of 40 patients with classic Sotos syndrome. The studies consisted of CT scans only in 4 patients and one or more MRI scans in 36 patients. The diagnosis of Sotos syndrome was made using well-established clinical criteria. The neuroimaging studies of each patient were evaluated subjectively by visual inspection and the chief findings were tabulated and grouped into five categories: 1) ventricular abnormalities, 2) extracerebral fluid spaces, 3) midline abnormalities, 4) migrational abnormalities, and 5) others. The most common abnormality of the cerebral ventricles was prominence of the trigone (90%), followed by prominence of the occipital horns (75%) and ventriculomegaly (63%). The supratentorial extracerebral fluid spaces were increased for age in 70% of the patients and the fluid spaces in the posterior fossa were increased in 70% also. A variety of midline abnormalities were noted but anomalies of the corpus callosum were almost universal. Gray matter heterotopias occurred in only 3 (8%) of 36 patients. Periventricular leukomalacia, presumably the result of prenatal or perinatal difficulties and unrelated to the basic condition, was the most common of the miscellaneous other abnormalities noted. The neuroimaging findings of Sotos syndrome are distinct enough to allow differentiation of this syndrome from other mental retardation syndromes with macrocephaly.
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PMID:The neuroimaging findings in Sotos syndrome. 1070 67

A 45-year-old man was admitted to our hospital because of generalized seizure. He had epilepsy and mental retardation since age of two. On admission temperature was 37.9 degrees C but, nuchal rigidity and Kernig's sign were not present. There were no other abnormal findings on physical examination. Neurological examination revealed consciousness disturbance, generalized seizure and mental retardation. Right hemiparesis gradually developed after generalized seizure. Laboratory data did not show any abnormalites to induce cerebral venous thrombosis. A brain MRI revealed hyperintensity on T2-weighted images and slightly enhanced on T1-weighted images in the left frontal lobe, using Gd-DTPA. An increased signal was also noted in the superior sagittal sinus on T1-weighted images. The superior sagittal sinus was patent but the cortical vein in the left frontal lobe was not demonstrated on cerebral angiography. A diagnosis of an isolated cortical vein thrombosis was made by exploratory craniotomy. Anticoagulation with heparin was started. Although the cortical vein thrombosis usually co-exsists with dural sinus thrombosis, an isolated cortical vein thrombosis like this case was rather rare. A case with cerebral venous thrombosis localized only in the left frontal cortical vein is reported, but definitive etiology is not known.
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PMID:[A case with an isolated cortical vein thrombosis]. 904 55

Trichothiodystrophy (brittle sulfur-deficient hair) is a marker for several autosomal recessive neurocutaneous syndromes with neurological manifestations and mental retardation. In Tay syndrome, the trichothiodystrophy is accompanied by congenital ichthyosis, short stature, delayed physical and mental development and pyramidal tract signs with increase in muscular tone and brisk tendon reflexes. The pathogenesis of these neurological manifestations is not fully elucidated. We present a case of Tay syndrome in which a cranial MRI revealed an almost total lack of myelin within the cerebral hemispheres and a patchy hypomyelination of the cerebellum. In accordance, a strongly prolonged visual evoked response pointed to a dysfunction of the white matter in Tay syndrome.
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PMID:The central nervous system in Tay syndrome. 905 52

We describe two unrelated patients with Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). The typical presentation is the discovery of fixed dilated pupils in a hypotonic infant. The iris abnormality is specific and seems pathognomonic of Gillespie syndrome. It can be distinguished clinically from other forms of aniridia and a presumptive diagnosis of Gillespie syndrome can be made in the first months of life on the basis of the ocular findings. Neurological involvement includes marked motor delay, hypotonia, disabling ataxia, and usually mental retardation. Cerebral and cerebellar atrophy with white matter changes on MRI scan were present in our second patient suggesting that patients with Gillespie syndrome may have more extensive CNS involvement than previously described. The parents of this child were first cousins; thus Gillespie syndrome may be heterogeneous with autosomal recessive and autosomal dominant forms.
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PMID:Gillespie syndrome: a report of two further cases. 921 10

We reported two patients with severe motor and intellectual disabilities syndrome, who were born to mothers having inhaled organic solvents during pregnancy. They had microcephaly, cerebral palsy, mental retardation, seizures, growth failure and minor craniofacial anomalies, variable growth deficiency including a small midface, narrow bifrontal diameter, low-set ears, thin upper lips and micrognathia. Patient 1, a male, died at 8 years and 8 months. The autopsy of his brain revealed marked cerebral atrophy and destruction of bilateral temporal lobes with ventricular enlargements. Microscopic examination revealed migration disorders with polymicrogria at the remaining cerebrum and the cerebellum as well as very thin white matter. Much hemosiderin was found around ventricles, suggesting recurrent minimal bleedings which led to more brain atrophy. Patient 2, a 5 months old male infant, had infantile spasms. On CT and MRI, he had bilateral temporal lobe defect, which might be due to the infarction of bilateral middle cerebral arteries at the prenatal period. These clinical findings are similar to those of other embryopathies, caused by alcohol, phenytoin and other agents. Hersh et al. reported five cases of toluene embryopathy in 1985 and 1988, but they did not report such central nervous system abnormalities. The pathogenesis of toluene embryopathy remains to be solved, but our cases suggested the possible teratogenesis of toluene.
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PMID:[Two cases of toluene embryopathy with severe motor and intellectual disabilities syndrome]. 929 10

A large maternally inherited duplication of 14q and deletion of proximal 15q was observed in a child with myoclonic epilepsy, mental retardation and neuroblast migration disorders (NMDs) detected by MRI. Genetic syndromes associated with NMDs have previously been described. In additional our observations support the connection between major chromosomal imbalances, developmental brain disorders and epilepsy. Thus, in patients with these combinations of symptoms, careful chromosome investigations are recommended.
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PMID:Myoclonic epilepsy, neuroblast migration disorders, and maternally derived partial duplication 14q/deletion 15q. 929 40

Childhood-onset partial epilepsy caused by focal cortical dysplastic lesions (FCDLs) is often severe. A few patients reported with a favorable outcome had a normal neuropsychological examination, and FCDLs were always localized around the opercular region, suggesting that extent and location of the lesion may account for the favorable outcome. We report two patients with extraopercular FCDLs, who had a spontaneous remission of their childhood-onset epilepsy, despite a severe neurological deficit. A 22-year-old girl (patient 1) and a 16-year-old boy (patient 2), began to have partial seizures at the age of 9 years and 1 year respectively. On neurological examination, patient 1 had left hemiparesis and patient 2 had low IQ. Interictal EEG recordings revealed repetitive epileptiform discharges involving the right temporo-parietal or frontal areas in patients 1 and 2 respectively. MRI study showed focal cortical thickening or abnormal gyration located over the right parietal and frontal region respectively in patients 1 and 2, but failed to evidence T2 prolongation in the white matter beneath the dysplastic cortex. Optimal antiepileptic regimen always stopped seizures. Their long-term course was favorable, with remission of the seizures and normalization of EEG recordings, even 4-5 years after medication withdrawal. In conclusion, FCDLs may cause epilepsy with a benign course even in patient with mental retardation or neurological abnormalities. This may be related to a morphologically milder dysplastic lesion than found in patients with FCDLs and severe epilepsy.
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PMID:Spontaneous remission of childhood epilepsy in two patients with focal extraopercular cortical dysplasia. 933 72

Foix-Chavany-Marie syndrome (FCMS) is characterized by facio-linguo-masticatory diplegia in the absence of limb weakness. The most common cause is a cortical lesion resulting from a stroke but a congenital form has been reported. We present the case of a 53-year-old man who was admitted to hospital with worsening dysphagia which was know to have been present together with anarthria and facial palsy, since birth. He demonstrated features of FCMS with pseudobulbar palsy and unaffected reflexes and automatic responses. Cranial CT and MRI scans showed bilateral opercular lesions of CSF intensity in continuity with the lateral ventricles. We conclude that this case of static FCMS for over 50 years may represent a 'pure' form of congenital FCMS with motor symptomatology and unaccompanied by mental retardation or epilepsy.
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PMID:Pure congenital Foix-Chavany-Marie syndrome. 935 33

A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with mental retardation. Although no uniform protocol replaces individual clinician judgement, the consensus recommendations were as follows: 1. The individual with mental retardation, the family, and medical care providers benefit from a focused clinical and laboratory evaluation aimed at establishing causation and in providing counseling, prognosis, recurrence risks, and guidelines for management. 2. Essential elements of the evaluation include a three-generation pedigree: pre-, peri-, and post-natal history, complete physical examination focused on the presence of minor anomalies, neurologic examination, and assessment of the behavioral phenotype. 3. Selective laboratory testing should, in most patients, include a banded karyotype. Fragile X testing should be strongly considered in both males and females with unexplained mental retardation, especially in the presence of a positive family history, a consistent physical and behavioral phenotype and absence of major structural abnormalities. Metabolic testing should be initialed in the presence of suggestive clinical and physical findings. Neuroimaging should be considered in patients without a known diagnosis especially in the presence of neurologic symptoms, cranial contour abnormalities, microcephaly, or macrocephaly. In most situations MRI is the testing modality of choice. 4. Sequential evaluation of the patient, occasionally over several years, is often necessary for diagnosis, allowing for delineation of the physical and behavioral phenotype, a logical approach to ancillary testing and appropriate prognostic and reproductive counseling.
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PMID:Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. 937 33


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