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)

An 11-year-old girl with congenital myotonic dystrophy and infantile autism was reported. Her mother also suffered from typical myotonic dystrophy. Since her birth, the patient had been floppy, and showed bilateral talipes equinus at 1 year of age. Her subsequent psychomotor and speech development has been retarded. She showed autistic behavior and persistence to the sameness before 2 years old. She was admitted to Sawarabien at the age of 10 years. She could not talk anything but could understand simple, oral messages. Although she had severe degree of mental retardation, her ability for matching figures was relatively well reserved. Her autism was so manifest that it could not be explained by the degree of mental retardation. Neurological examinations revealed that she had facial diplegia, inverted V-shaped mouth, high-arched palate, talipes equinus, percussion myotonia of the tongue, generalized muscular atrophy and weakness, lordosis, areflexia, and congenital cataracta. The serum CPK was slightly elevated. EMG showed a myopathic pattern but did not show any myotonic discharge yet. The brachioradial muscle was biopsied and examined by light- and electron-microscopy. It mainly showed mild varieties of muscle fiber diameter and internal nuclei. Ultrastructurally, irregularly indented central nuclei and perinuclear degeneration of myofibrils associated with secondary lysosomes, lipid droplets and glycogen granules were revealed. Ventricular dilatation and some dysfunction of the brain were also revealed by CT scan and EEG respectively. The present case suggests that congenital myotonic dystrophy can be added into the disease group associated with infantile autism.
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PMID:[A case of congenital myotonic dystrophy with infantile autism]. 278 60

A three-year-old boy who had ataxic diplegia, mental retardation, horizontal pendular nystagmus with head nodding and abnormal auditory brain stem responses showing only waves I and II was presented. His clinical features coincided with recent reports in the Japanese literature of cases of a new syndrome that is congenital in origin and seen only in boys.
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PMID:A case of ataxic diplegia, mental retardation, congenital nystagmus and abnormal auditory brain stem responses showing only waves I and II. 382 55

A male patient with recurring episodes of hypoglycemic attacks was diagnosed as having isolated ACTH deficiency as well as renal glycosuria and ichthyosis vulgaris. In addition, he had facial diplegia and abducens palsy consistent with Moebius syndrome, muscle atrophy with proximal dominancy, high arched palate, hammer toes, and mental retardation. There was electrophysiological evidence of peripheral neuropathy. Muscle biopsy of the deltoid showed mild myofiber atrophy with occasional cylindrical laminated bodies. The association of these disorders has never been reported and it could be coincidental. However, considering the high rate of association of isolated hypogonadotropic hypogonadism and Moebius syndrome with peripheral neuropathy, the present case may indicate a causal relationship between isolated ACTH deficiency and Moebius syndrome, reflecting the disorders in the organ systems derived from a common ectoderm.
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PMID:Association of isolated adrenocorticotropin deficiency with a variety of neuro-somatic abnormalities in congenital facial diplegia (Moebius) syndrome. 632 50

Eighty infants with cerebral palsy including monoplegia, diplegia, quadriplegia, hemiplegia, choreoathetosis, hypotonia with mental retardation and cerebellar ataxia, underwent Computed Cranial Tomography (CCT). Specific morphological anomalies such as ventricular dilatation with or without diverticulum, cortical atrophy, low density areas and calcifications, occur with varying frequency in each clinical groups. There exists a good correlation between the pathogenesis of the lesions, clinical data and CCT pictures.
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PMID:Cranial computerized tomography in cerebral palsy. An attempt at anatomo-clinical and radiological correlations. 720 4

Locomotion patterns were studied in 160 children with cerebral palsy. Ten patterns were distinguished, which were typical of the type of impairment: (1) crawling--mildly impaired children who will achieve independent walking; (2) creeping and crawling--diplegic children with moderate motor impairment; (3) creeping, never leading to independent walking--children with severe diplegia or tetraplegia; (4) bottom shuffling--children with hemiplegia and ataxia and minimal or mild motor impairment; (5) bunny-hopping--dyskinetic children with marked motor impairment but generally not mentally retarded; (6) rolling--severely diplegic and dyskinetic children; (7) other forms of locomotion, such as bridging or grub-type creeping, rare and typical of children with ataxic elements; (8) just walk--children with hemiplegia, diplegia, ataxic diplegia or ataxia, generally in cases of mild motor impairment but mental retardation; (9) just walk with aids--children with severe diplegia; and (10) no mobility. The locomotion pattern, age at onset and even manner of execution all influenced prognosis for walking. Severe deformity affected the choice of locomotion pattern. Though physiotherapy probably would not greatly influence the adoption of a particular locomotion pattern, early intervention might help prevent deformities.
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PMID:Locomotion patterns in cerebral palsy syndromes. 749 22

MRI findings of bilateral central macrogyria allowed the diagnosis of a congenital variant of Foix-Chavany-Marie syndrome in four patients aged between 13 and 32 years, with facio-pharyngo-glosso-masticatory central diplegia, mental retardation and seizures.
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PMID:MRI of congenital Foix-Chavany-Marie syndrome. 756 51

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

Advances in neuroimaging techniques have enabled the recognition of developmental malformations of the brain during life. Careful correlation of clinical and imaging features has identified several new syndromes. We have studied 31 patients with a congenital neurological syndrome characterised by pseudobulbar palsy, cognitive deficits, and bilateral perisylvian abnormalities on imaging studies. All patients had diplegia of the facial pharyngeal, and masticatory muscles, of variable severity. Some patients had slight dysarthria, whereas others were unable to speak. 85% of patients had mental retardation, ranging from mild to severe. Epilepsy was present in 27 (87%) and commonly consisted of atypical absence, atonic/tonic, tonic-clonic seizures, and, less frequently, partial attacks. Seizures were poorly controlled in 55%. Magnetic resonance imaging showed bilateral perisylvian cortical malformations consistent with polymicrogyria, confirmed at necropsy. Division of the corpus callosum in several patients resulted in seizure improvement. This congenital bilateral perisylvian syndrome can be clinically diagnosed and confirmed by imaging studies. Further studies are necessary to elucidate its cause.
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PMID:Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. 809 39

The magnetic resonance examination was performed in 38 patients with severe cerebral palsy (CP; 15 males and 23 females) who had both motor delay (unable to move anywhere) and mental retardation (I. Q or D. Q below 30). Neuroimaging findings were compared with the CP type, etiology, and grade of understanding of language. Cranial magnetic resonance imagings (MRI) in CP were divided into five types. Type 1 : nine predominantly showed cyst-liked ventricles and periventricular hyperintensity on T2-weighted imaging (PVH) and only scarred basal ganglia and thalamus were visible. All suffered from neonatal asphyxia and the clinical type was rigospastic tetraplegia (RST). Type 2: eleven predominantly showed PVH and hyperintensity on T2-weighted (HT2) in basal ganglia and thalamus. All suffered from neonatal asphyxia and the clinical type was RST or rigospastic diplegia. Type 3: five showed PVH and three had cortical atrophy. All suffered from neonatal asphyxia and the clinical type was spastic diplegia. Type 4: four predominantly showed HT 2 in putamen and thalamus. Three had cortical atrophy. All suffered from neonatal asphyxia. The clinical type was athetotic CP (ATH). Type 5: nine predominantly showed HT 2 in globus pallidus. Four had cortical atrophy and two had hippocampal atrophy. All suffered from neonatal jaundice and the clinical type was ATH. All patients who suffered from neonatal asphyxia and spastic CP had MRI in PVH. All patients who suffered from neonatal asphyxia and ATH showed HT 2 in putamen and thalamus. Almost patients who suffered neonatal jaundice and ATH showed HT 2 in globus pallidus. With athetotic CP, cases with atrophy of the cerebral cortex or/and hippocampus were lower grade of understanding of language than no atrophy of both. The result of studies of MRI are in agreement with neuropathological findings.
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PMID:[The cranial MRI in severe cerebral palsy: a comparative study with clinical data]. 839 33

Fifty-five infants who presented bacterial neonatal meningitis were prospectively studied to analyze the frequency and the type of sequelae. All the infants were full term newborns. There were 38 boys and 17 girls; the age of disease onset varied from 3 to 28 days. The causative organism was represented mainly by enterobacteriae. The median time of follow-up was 5 years. The frequency of neurologic sequelae was 63.7%, represented mainly by neuropsychomotor development delay (58.2%), hydrocephaly (45.5%) and convulsions (34.5%). Severe motor abnormalities ocurred in 23.6% of children (quadriplegia, diplegia, hemiparesia and ataxia). Convulsions in the acute phase of the disease and the positive cerebrospinal fluid culture were highly associated to sequelae. The school performance, obtained in 25 children, showed presence of disabilities in 48% of cases, which were significantly associated to mental retardation.
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PMID:[Neonatal bacterial meningitis: prospective study of the long-term outcome of 55 children]. 873 49


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