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

We present two case reports with severe hypoxic encephalopathy at birth. Studies carried out in the NICU included cranial ultrasonography, CT, and MRI. Due to abnormalities found by the latter two they were referred to our center at the age of two months and one month, and then an early Vojta therapy commenced. Changes were monitored periodically by assessing their spontaneous movements, postural reactions and neurological manifestations. The first case presented with ventricular hemorrhage and was diagnosed as having severe CCD (central coordination disturbance) with the risk of athetotic type cerebral palsy. The second case presented with severe low density in the frontal and temporo-parietal white matter and was diagnosed as having moderate CCD with the risk of mental retardation or brain atrophy. Although their status fluctuated temporarily, the two infants didn't show any paresis or mental retardation. Recently the studies on mechanisms of brain plasticity have advanced. The findings of our experience might suggest that the plasticity of an immature brain could be enhanced by the very early Vojta therapy. We propose that a therapeutic intervention should commence early before clinical symptoms become evident.
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PMID:[Experience of very early Vojta therapy in two infants with severe perinatal hypoxic encephalopathy]. 1056 91

The patient was a 69-year-old male who had visited our psychological department due to mental retardation. Pericallosal lipoma was indicated by MRI taken during treatment. On December 30, 1998, the patient fell from steps and struck his forehead hard, and then limb palsy occurred. He was emergently brought to our hospital. Under the suspected diagnosis of traumatic cervical spinal cord injury, preventive therapy was performed to observe the clinical course in which paralysis gradually improved. On January 22, 1999, however, he died of cardiopulmonary arrest due to sudden suffocation. In general, the connection of choroid plexus lipoma and pericallosal lipoma is bilateral in most cases. In our patients, MRI suggested that a connection with cerebral ventricles through choroidal fissure existed with no right and left difference, however, autopsy findings revealed that the lipoma existed along the left cerebral arch with obvious connection only with the left choroid plexus. The present case seemed to be a very rare case.
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PMID:[An autopsy case of pericallosal lipoma with mental retardation]. 1058 16

In tuberous sclerosis (TS), brain CT reveals subependymal nodules, cortical tubers and white matter lesions. This study is a retrospective analysis of the relationship between the variations over time in the number of subependymal nodules and the clinical course in cases of tuberous sclerosis. Twenty-four children with tuberous sclerosis, who attended the National Children's Hospital as outpatients, were followed by means of brain CT examinations for 7 years and 1 month on average. Cranial MRI was also performed in 22 cases. Brain CT disclosed subependymal nodules already in early infancy. In almost all cases, the number of subependymal nodules gradually increased with age, especially around the frontal horn of the lateral ventricle. The increase stopped at around age 10. The cases with five or more subependymal nodules at the initial or subsequent CT examination ( 17 patients; Group A) exhibited a significantly greater number of cortical tubers than those with less than five (five patients; Group B) and had white matter lesions unlike Group B. In addition, the number of cases with either infantile spasms or mental retardation was significantly higher in Group A than Group B (P < 0.005). In conclusion, the number of ventricular subependymal nodules may allow prediction of the severity of the cerebral dysfunction in TS. Our results suggest that its variation may reflect the degree of the embryologic disorder when neuronal cells grow in the early gestational period.
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PMID:Neurological prognosis correlated with variations over time in the number of subependymal nodules in tuberous sclerosis. 1059 56

Magnetic resonance imagings of 91 children with hemiplegic cerebral palsy were analysed with the aim of clustering their features into fairly homogeneous forms. In addition, the different clinical patterns of each form were described. Four main types of lesion were distinguished: form 1 (13 cases), which comprised brain malformations, form 2 (41 subjects), which grouped abnormalities of the periventricular white matter, form 3 (27 children), which was represented by cortical-subcortical lesions, and form 4 (10 subjects), which grouped non-progressive postnatal brain injuries. None of the children had normal MRI and a high incidence of bilateral lesions was found, especially in form 2. A left motor involvement was prevalent in the sample and was noted in all but the third form. The severity of impairment was mainly moderate in forms 1 and 3, mild in the others. The upper limb was found to be more affected in all forms except the second one, which presented a greater involvement of the lower limb. Mental retardation occurred in about one-third of the children with forms 1 and 4, less often in the other two. Seizures occurred in about half of the children with forms 1 or 3, while the incidence was lower in forms 4 and 2. A strong correlation between the presence of seizures and mental retardation was observed. The results of this study show the importance of MRI in the evaluation of children with hemiplegic cerebral palsy.
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PMID:MRI and clinical characteristics of children with hemiplegic cerebral palsy. 1059 36

We report 5 girls presenting Rett syndrome. All of them were from south Tunisia. They fulfilled the Rett syndrome diagnosis criteria (The Rett syndrome diagnosis criteria work group, 1988). Pregnancy, birth and psychomotor development during the first year of live were normal. The mean age at the onset was 19.8 +/- 2.5 months. The two revealing symptoms were psychomotor regression (3 cases) and epilepsy (2 cases). They were admitted to our ward at a mean age of 4.7 +/- 1.5 years. Clinical presentation was typical of Rett syndrome. Mental retardation, stereotypic hand movement (hand washing/wringing or clapping/tapping) and loss of purposeful manual skills were noted in all cases. Gait was apraxic and increase of head circumference was slowed. Additional features included, respiratory dysfunction (episodic hyperventilation and breath-holding), epilepsy, scoliosis (4 cases), growth retardation and spasticity (3 cases). Electroencephalography showed slow activity with multifocal epileptiform abnormalities. Sleep enhanced these EEG abnormalities. MRI and CT-scan disclosed non specific cortical and sub-cortical atrophy. All cases were isolated and parents were consanguineous in 3 cases. Rett syndrome is relatively frequent in Europe, but in Tunisia this disease remains rare and certainly underdiagnosed.
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PMID:[Rett's syndrome: report of 5 cases in Tunisia]. 1060 40

We report two brothers with mental retardation, lymphoedema of the limbs and facial anomalies. Hennekam et al. (Am J Med Genet 34:593-600; 1989) described four patients with identical signs and intestinal lymphangiectasia. To confirm the diagnosis of Hennekam syndrome we undertook a duodenal biopsy from the older brother which revealed intestinal lymphangiectasia. So far only one patient with Hennekam syndrome and cerebral abnormalities has been described. This patient presented with pachygyria in the parietal area. Cerebral MRI in our two cases revealed small subcortical hyperintensities in both patients and a large cystic lesion in the younger patient probably representing an old media infarction.
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PMID:Two brothers with Hennekam syndrome and cerebral abnormalities. 1064 92

We reported a boy with nevoid basal cell carcinoma syndrome (NBCCS) with chromosomal aberration. He showed multiple jaw cysts, basal cell carcinomas, hypertelorism, macrocephaly and mental retardation. Cranial CT revealed calcification of the falx cerebri and tentorium cerebelli, and dilatation of the lateral ventricles. MRI showed a thin corpus callosum. A chromosomal study revealed a deletion of 9q21.31-q22.31. He had generalized tonic-clonic seizures, which were well controlled. Since the gene for NBCCS was recently mapped to chromosome 9q22.3, we suspected that the deletion site in this patient was responsible for his symptoms of NBCCS.
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PMID:[A nevoid basal cell carcinoma syndrome with chromosomal aberration]. 1065 52

Fourteen children (of Arab ethnic origin) with Sotos syndrome are described. They were referred to King Khalid University Hospital, Riyadh between July 1992 and June 1997. Their phenotypic characteristics were compared with established diagnostic criteria. There was a male:female ratio of 1.3:1 and a high rate of consanguinity (36%) among parents. At birth, 54% were large and about one-third showed increased height and occipitofrontal head circumference (OFHC). The neonatal histories revealed respiratory and feeding problems in 21%, followed later by delayed motor milestones and speech development in 57%. During childhood, weight, height and OFHC increased further to > 97th centile in 71%, 71% and 93%, respectively. A seizure disorder affected 43%, and 75% had mental retardation (IQ < 70). A non-specific EEG abnormality was found in half of those with seizures. Cranial CT/MRI showed ventricular dilatation in 15% and one patient had corpus callosum dysgenesis. Abdominal ultrasound revealed hydronephrosis in two patients. Radiological cephalometric measurements showed relative prognathism in cases of Sotos syndrome compared with controls (p = 0.003). The study highlights the importance of considering Sotos syndrome in children who present with psychomotor delay.
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PMID:Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia. 1069 Feb 61

Since the first description by Kanner (1943) the association between autistic disorder (AD) and epilepsy has been observed in 4-42% of patients. Some authors reported that seizures prevailed in adolescence but a systematic investigation has never been undertaken. We examined retrospectively 60 patients divided into two groups (with and without epilepsy and EEG paroxysmal abnormalities) with AD unrelated to a congenital or acquired encephalopathy (mean age 17 years 2 months). The aim was to investigate epilepsy, EEG paroxysmal abnormalities and possible etiological factors. The prevalence of epilepsy was 38.3%, much higher than that in a normal population of a similar age (6.6 per thousand). The prevalence of EEG paroxysmal abnormalities without epilepsy was 6.7%, higher than that in a population of adolescents and adults with psychiatric pathologies (2. 6%). Seizure onset was after age 12 years in 66.7% of cases. The most common type of epilepsy was partial in 65.2% and four patients (17.4%) had a benign childhood epilepsy with centro-temporal spikes. At the last observation 44.4% of patients had been seizure-free for 2 years or more. There were no organic factors influencing the development of epilepsy but familial and personal antecedents, mental retardation and CT scan/MRI data may suggest an early brain dysfunction responsible for AD and epilepsy.
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PMID:Epilepsy in adolescents and young adults with autistic disorder. 1072 61

We reported an autopsy case of neuronal ceroid-lipofuscinosis (NCL3) with dilatated cardiomyopathy. A 29-year-old male patient first noticed night-blindness at the age of four years. He was pointed out retinitis pigmentosa at the age of six years and developed ataxia, mental retardation, epilepsy and myoclonus, thereafter. T1 weighted MRI showed diffuse atrophy of the cerebellum, brainstem, and cerebrum, and dilatation of the ventricular system and T2-weighted MRI showed mild high signal intensity in the white matter around the trigones of the lateral ventricles. Autopsy findings showed an abundant accumulation of ceroid-lipofuscin-like lipopigments in most neurons in the central nervous system, and curvilinear bodies and lipofuscin like granules were confirmed by electron microscopy. The heart muscle showed an increase in the accumulation of ceroid-lipofuscin-like lipopigments, severe fibrosis and fatty infiltration in the myocardium. The peculiar point of this case is NCL3 with dilated cardiomyopathy.
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PMID:[An autopsy case of juvenile neuronal ceroid-lipofuscinosis with dilated cardiomyopathy]. 1096 52


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