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

The prognosis of perinatal brain damage was studied prospectively in a one year birth cohort of 12,000 children born in Northern Finland in 1966. Children were included in the study if they had an Apgar score of 0 at 1 min or less than 5 at 15 min, convulsions during the neonatal period, or a diagnosis of asphyxia, brain injury or intraventricular haemorrhage, but did not have CNS malformation, chromosomal aberrations or hereditary CNS degeneration. There were 233 children, 19.3 per thousand, of which 134, 58.0% were boys. Eighty-four, 36.4% died during the first 28 days and 7 children died before the age of 14 years, 6 of the latter group being handicapped. There were 44 children, 29.9% who had mental retardation, IQ less than 71, epilepsy or cerebral palsy. With regard to these children 13 had normal school performance, but there were 12 other children in the perinatal brain damage group who needed special education, two of them because of deafness. Perinatal brain damage accounted for 57.5% of all neonatal deaths, 30% of admissions to a special nursery and 12.5% of mental retardation (IQ less than 71), epilepsy and cerebral palsy at the age of 14.
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PMID:Prognosis of perinatal brain damage: a prospective study of a one year birth cohort of 12,000 children. 359 79

Initially described as incontinentia pigmenti achromians, Ito's hypomelanosis is a congenital disease characterized dermatologically by depigmented maculae arranged in a specific pattern. These maculae appear suddenly, unheralded by an inflammatory process, and are arranged on the limbs as lines and on the trunk as whirlwinds or mottled cakes. Other abnormalities, notably neurological, ophthalmic or musculoskeletal may be associated with this spray-like depigmentation of the skin. We report here three cases of this disease, which is probably more common than the scarcity of cases hitherto published would suggest. Case no. 1. A 9-year-old boy presented since the age of 5 with generalized convulsive fits predominant on the right side. Neurological examinations between fits were negative. IQ, FO and CT scans of the brain were normal. During the first months of life, the child had developed a spray-like depigmentation on the right half of his back and on the anterior and posterior aspects of his right arm. Case no. 2. A 2-year-old girl was examined for a cutaneous depigmentation which had developed when she was about 3 months' old and had progressively extended from her left knee to her left hypochondrium. Case no. 3. An 8-year-old girl presented with mental retardation and myopia, but also with a spray-like depigmentation on the left part of her chest. The skin lesion had been noticed by her parents after she had exposed herself to the sun in a tropical country. Histological examination performed in the first two patients showed some degree of hypopigmentation of the epidermis without pigmentary incontinence.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Ito's hypomelanosis. Review of the literature apropos of 3 cases]. 370 84

A 4-year-old boy with a history of muscular hypotonia, mental retardation, microcephaly, and generalized convulsions was found at autopsy to have agyria, agenesis of the anterior commissure and posterior corpus callosum as well as an abnormal decussation of pyramidal tracts which descended in the spinal dorsal columns. Postmortem muscular alterations included type IIc fiber hypertrophy and type I fiber grouping, variably expressed in individual muscles and intramuscular fascicles. This may represent a developmental delay compatible with a gestational age between the 34th and 40th week. These studies also indicate the importance of examining multiple samples of postmortem muscles and muscles from patients afflicted with cerebral malformations.
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PMID:Muscular alteration in agyria with pyramidal tract anomaly. 382 54

A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months. Megaloblastic anaemia was present and profound folate deficiency was evidenced in plasma and in CSF. Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications. Loading tests with folic acid and its derivatives led to the conclusion that the folate deficiency was caused by a defect in folate transport both across the gut and the blood-brain barrier. Low plasma concentrations of methionine prompted a therapeutic trial with methionine associated with vitamin B12 and folic acid that spectacularly improved the convulsions.
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PMID:Congenital folate malabsorption. 398 28

Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All three had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The two more severe cases developed convulsions. They were saved by peritoneal dialysis, or repeated exchange transfusions followed by dietary adjustment. Multifocal spikes or repetitive paroxysmal activity of various kinds were seen in the EEGs at times of crisis. There was a lag in the EEG returning to normal after ammonia levels had returned to normal. Citrulline remained elevated in all cases. Follow-up over years revealed mild spasticity, mental retardation and, in one case, cortical atrophy.
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PMID:The EEGs of infants with citrullinemia. 399 77

In these past 10 years, the usefulness of auditory brainstem response (ABR) has been demonstrated in the clinical evaluation of audiological or neurological disorders, and the absence of an ABR is commonly accepted as consistent with a peripheral hearing loss caused by middle or inner ear diseases. In this article, the authors report nine infants and children who had an absent or difficult to detect ABR at the first examination with subsequent normalization of ABR. Repeated otological examinations were always normal in these patients. The final diagnoses were delayed development, Waardenburg syndrome with congenital heart disease and epilepsy, healthy infant, infantile convulsion, mental retardation with history of low birth weight, in each case, and chromosomal aberration in four patients. The reason for normalization of ABR in our patients is not clear and is yet to be ascertained. However, the authors believe that neurological maturation rather than an improved primary peripheral disorder is responsible for the noted normalization of the ABR, because of the high incidence of neurological abnormalities in these patients.
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PMID:Normalization of poor auditory brainstem response in infants and children. 608 32

43 pre-term newborns with birth weight of less than 1,500 grams who had been admitted to the Neonatal Intensive Care Unit of the Department of Pediatrics of the University Clinic, Bonn, between 1971 and 1977, were reexamined on age between 1-7 years. A severe neurological handicap (hemiplegia with mental retardation) was present in only one child. There was no child with convulsions. Signs of minor cerebral dysfunction were present in five children. Developmental retardation of mild degree was observed in eight children. 28 children were entirely normal. Our results are in accordance with the encouraging reports of other recent authors concerning the improving long-term prognosis of very-low-birth-weight pre-term infants.
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PMID:[Follow-up pre-term newborns with birth weight of less than 1500 grams now aged between 1-7 years (author's transl)]. 611 1

The authors performed galactose loading tests in children suffering from chronic diseases: recurrent bronchitis vomiting, diarrhoea, milk-intolerance, somatic and mental retardation, cramps. In 32 of the 92 examined cases galactose levels rose until pathological, pseudo- diabetic levels. Stillbirth, cataract, hyperbilirubinaemia, convulsions occurred among family members of 10 patients. Galactose-1-phosphat-uridyl-transferase levels were decreased only in 4 of the 17 patients examined. In the other cases some different pathway of galactose metabolism is suspected. Complete remission of symptoms was achieved with diet devoid of milk sugar (lactose) in 29 patients: one infant died and two others remained mentally retarded. According to the examinations presented minor deviations of galactose metabolism cause clinical symptoms more frequently in early life as it was supposed until now.
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PMID:[Galactose loading test in infants and small children suffering in recurrent bronchitis and other chronic illness (author's transl)]. 611 85

The anaesthetic management of four paediatric patients with the Prader-Willi syndrome is reported. The syndrome is characterized by obesity, mental retardation, genital hypoplasia, hypotonia, and diabetes mellitus. All patients were anaesthetized with halothane. Succinylcholine or pancuronium were used for muscle relaxation, without evidence of abnormal response. Common anaesthetic difficulties in this syndrome are obesity, hypotonia, disturbance in thermoregulation, arrhythmias, diabetes mellitus and convulsions.
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PMID:Anaesthetic considerations in the Prader-Willi syndrome: report of four cases. 613 37

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.
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PMID:[Sibling case of osteosclerosis with cranial nerve symptoms]. 629 11


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