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In April 1985, a report entitled "Prenatal and Perinatal Factors Associated with Brain Disorders" was published by the National Institutes of Child Health and Human Development and the National Institute of Neurological and Communicative Disorders and Stroke. A panel of ten individuals completed the report documenting the knowledge and the complexities of what is known with respect to brain damage that may develop before birth or in the neonatal period. It is clear that all stages of fetal and neonatal development influence normal outcome. Although intrapartal period events may explain a significant portion of cerebral palsy, the illness is often linked with confounding factors such as low birth weight and asphyxia. Pure epilepsy or pure mental retardation is rarely associated with intrapartal events. In general, the pathologic lesions seen in the brain may reflect many different fetal insults. The same clinical event such as asphyxia may result in varied intracranial diseases, which effects may depend on when the clinical events occurred.
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PMID:Prenatal and perinatal factors associated with brain disorders. 373 66

We have reported the characteristic dynamic changes at the base of the brain in childhood Moyamoya disease in terms of follow-up angiography. So we have classified the angiographical findings of Moyamoya disease into six stages. However, there have been no report that proved these findings in long-term follow-up. On the other hand, these angiographical findings are mainly observed in children, we can seldom to find out any changes in adults. We performed long-term follow up angiography in adult cases whose onset was in childhood to clarify the natural course of this disease and to understand the difference between the cases of children and adults. Eleven cases (4 males and 7 females) of Moyamoya disease were investigated by angiography. Average onset was 5.1 years old. All of them were diagnosed by initial angiography in childhood (average age were 6.5 years old) and they grew up into adolescence (average age were 18.6 years old) at the time of follow-up study. Initial symptoms of them were all ischemic (TIA 7, RIND 2 or completed stroke 2). The symptoms at the time of follow-up were mental retardation in 5 patients, slight neurological deficits in 1, TIA in 2 and normal in 3. Among them, one patient had suffered from intraventricular hemorrhage. The results were as follows: the progression of angiographical stages was observed in 95% of sides. In 71% of sides, angiographical stage was in 5 or 6 which is thought to be an end stage of this disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Long-term follow-up angiography of moyamoya disease--cases followed from childhood to adolescence]. 395 60

A recent "Tuberous Sclerosis Research Workshop," held in Cambridge, Massachusetts, under the sponsorship of the National Institute of Neurological and Communicative Disorders and Stroke and the Tuberous Sclerosis Association of America, examined the current state of knowledge about this congenital disorder which frequently results in mental retardation. Workshop participants discussed the controversy over whether diagnostic tests based on the presence of hypomelanotic macules in the skin of newborns are sufficiently reliable to warrant legislated mass screening programs such as the one that will take effect in Massachusetts in June 1986. They also considered the likelihood of developing techniques for the prenatal diagnosis of the disorder in the future.
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PMID:Early diagnosis, genetic marker sought for tuberous sclerosis. 658 29

The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfunction during infancy, cerebellar ataxia and atrophy, polyneuropathy, growth retardation, stroke-like episodes, and the appearance of carbohydrate-deficient fractions of multiple glycoproteins in the serum. The neuroradiological findings have been known as features of olivopontocerebellar atrophy. However, whether the abnormalities in the cerebellum and brain stem progress after birth is not known. We have carried out serial CT and MRI on three Japanese patients with this syndrome at different ages. A small cerebellum, with peculiar enlargement of the cisterna magna, and a small brain stem are present in infancy and atrophy of the anterior vermis and from before backwards in the cerebellar hemispheres seem to progress throughout early childhood.
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PMID:Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome. 747 67

An A to G transition at nucleotide 3,243 in the tRNA(Leu(UUR)) gene of mitochondrial DNA (mtDNA) has been suggested to be the disease-related mutation for MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Recently, the same mutation has also been found in several pedigrees with maternally inherited diabetes mellitus and sensorineural deafness. We report here a family showing the association of deafness and diabetes mellitus, as the predominant clinical features, with this mutation. The mutation was detected by restriction-enzyme analysis of the relevant PCR-amplified segment of the mtDNA, in two generations. In this family, it is noteworthy that two members with the mutation had some symptoms of MELAS such as short stature, seizures and mental retardation and that one had no clinical symptoms though the mtDNA mutation was identified in his blood. The findings in this family demonstrate the diversity of clinical expression of the mtDNA mutation and suggest that a combination of sensorineural deafness and diabetes mellitus is only one typical presentation of the various phenotypic features caused by the 3,243 mutation.
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PMID:[Detection of a mutation in mitochondrial DNA in a family with sensorineural deafness and diabetes mellitus as the predominant clinical features]. 756 31

We examined the clinical and biochemical features of 27 cases with acute myoglobinuria who had been suspected of having metabolic myopathies. The systematic biochemical studies included the measurements of 13 glycolytic enzymes, mitochondrial respiratory chain enzymes, carnitine palmitoyltransferase (CPT) and 5 enzymes of fatty acid beta-oxidation. Enzyme defects were found in 9 patients using muscle biopsy specimens: phosphorylase deficiency in 3, CPT deficiency in 4 and phosphoglycerate kinase deficiency in 2. One patient was diagnosed as MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with the histopathological examination and clinical data. A suspicion of beta-oxidation disorder was entertained in some patients of which the activities were about 50% of control means. However, no evidence to substantiate its significance as the enzyme defects was obtained from our data. Sixteen of 17 undiagnosed cases could be divided into two groups according to precipitating factors as follows: one had exercise as the factors and the other had infection. These groups also showed some differences in clinical features. In the infection group, myoglobinuria tended to progress more rapidly and was occasionally followed by acute renal failure. And some cases had additional associated conditions such as mental retardation or epilepsy. On the other hand, the exercise group had only myopathic symptoms. The difference in these clinical features between the two groups suggested that they had the different pathogenic mechanisms respectively.
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PMID:[Clinical and biochemical analysis of 27 patients with myoglobinuria of unknown causes]. 778 Dec 10

Most adults with Down's syndrome (DS) develop neuropathology characteristic of Alzheimer's disease (AD) by the age of 40. Most of the non-dysjunction events in DS are of maternal origin. We postulated therefore that a shared genetic susceptibility to DS and AD would be associated with an increased frequency of AD among mothers, but not fathers, of individuals with DS. We further hypothesised that the shared susceptibility could involve an accelerated ageing process, leading to the birth of a child with DS to a relatively young mother and to an increased risk of dementia in the mother and her relatives. Families of 96 adults with DS and of 80 adults with other forms of mental retardation were ascertained through the New York State Developmental Disabilities services network. A semi-structured interview was used to obtain information on the presence or absence of non-stroke-related dementia and other disorders in parents. There was an increase in risk of dementia among mothers of DS probands compared with control mothers (risk ratio 2.6 [95% CI 0.9-7.3]). The risk of dementia among mothers who were 35 or younger when their DS children were born was 5 times that of control mothers (4.9 [1.6-15.4]). There was no increase in risk of dementia among mothers who were older (> 35 years) at the proband's birth (0.8 [0.2-3.4]). There was no difference in risk of dementia between fathers of DS cases and fathers of controls (1.2 [0.4-3.9]) and no discernible influence of age on this risk. Familial aggregation of dementia among mothers of adults with DS supports the hypothesis of a shared genetic susceptibility to DS and AD.
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PMID:Increased risk of Alzheimer's disease in mothers of adults with Down's syndrome. 793 77

In 1986 in the Kuthar Valley in the Anantnag District of south Kashmir (northwestern India), we studied the population to ascertain the prevalence and pattern of various neurological diseases. A house-to-house survey was done in a rural population of 63,645 (according to a World Health Organization protocol, 1981). 616 cases of major neurological disorders were detected, yielding a prevalence of ratio of 9.67/1,000 as of prevalence day November 1, 1986. The prevalence ratios for various common neurological disorders were: epilepsy 2.47/1,000; stroke 1.43/1,000; paralytic poliomyelitis 2.18/1,000; mental retardation 2.09/1,000; deaf mutism 1.63/1,000, and cerebral palsy 1.24/1,000. Persons with these conditions constituted 92% of all neurological cases. Patients with motor neuron disease, Alzheimer's dementia or multiple sclerosis were not found.
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PMID:Prevalence and pattern of major neurological disorders in rural Kashmir (India) in 1986. 801 64

A 13-year-old male presented with new onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs. Laboratory investigation demonstrated combined deficiency of protein C, protein S, and antithrombin III. He and his 17-year-old sister had a mental retardation-multiple anomaly syndrome associated with microcephaly, unusual facies, and lax connective tissue. Their dysmorphology included elongated faces with narrow forehead, arched eyebrows, large mouth with down-turned corners, malformed teeth, and furrowed tongue. Both had Marfanoid habitus with lax joints, pectus excavatum, kyphoscoliosis, and flat narrow feet. The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors. The sagittal sinus thrombosis, left frontal intracranial hemorrhage, carotid aneurysm, tortuous descending aorta, and deep venous thrombosis suffered by the male sibling adds the Cohen syndrome to genetic vasculopathies that may be associated with stroke.
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PMID:Multiple coagulation defects and the Cohen syndrome. 806 42

A new group of recessively inherited metabolic disorders affecting glycoprotein metabolism has been identified--the carbohydrate-deficient-glycoprotein (CDG) syndromes. Here the course and clinical expression of CDG syndrome type I in 13 patients who have passed the age of 15 years are described. All presented with early onset psychomotor retardation, in most cases combined with slight facial dysmorphic features, some degree of hepatic dysfunction, and in one case, pericardial effusion. About half of the patients had subcutaneous lipodystrophy and comatose or stroke-like episodes during childhood. After the age of 15 the disease was mainly characterised by neurological symptoms consisting of non-progressive ataxia associated with cerebellar hypoplasia, stable mental retardation, variable peripheral neuropathy, and strabismus. One third of the patients had generalised seizures, usually sporadic, and all had retinal pigmentary degeneration. In all cases there was more or less pronounced thoracic deformity and no female had passed puberty. Also, the oldest female showed premature aging. Severe internal organ symptoms, which are common in pediatric patients, were absent. All patients had highly raised serum concentrations of the biochemical marker carbohydrate-deficient transferrin, which can be used to verify the diagnosis. It is concluded that after childhood, CDG syndrome type I is a largely non-progressive disease compatible with a socially functioning but dependent lifestyle.
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PMID:Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. 820 22


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