Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe 2 new cases of Alexander's disease, the first to be reported in Belgium. The first patient, a 4-year-old girl, presented with progressive megalencephaly, mental retardation, spastic tetraparesis, ataxia and epilepsy: post-mortem examination showed widespread myelin loss with Rosenthal fibers (RFs) accumulation throughout the neuraxis. She was the third of heterozygotic twins, the 2 others having developed normally and being alive at age 5 years. The second patient developed at age 10 years and over a decade spastic paraparesis, palatal myoclonus, nystagmus, thoracic hyperkyphosis and thoraco-lumbar scoliosis with radiological findings of bilateral anterior leukoencephalopathy. Brain stereotactic biopsy at age 16 years demonstrated numerous RFs. With these 2 cases, we review the literature on the various clinico-pathological conditions reported as Alexander's disease. We discuss the nosology of this entity and the pathogeny of RFs formation and dysmyelination. Clues to the diagnosis of this encephalopathy in the living patient are briefly described.
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PMID:Infantile and juvenile presentations of Alexander's disease: a report of two cases. 1010 Sep 59

Darier's disease (DD) is a rare, dominantly inherited disorder that affects the skin producing a variety of types of lesion. Close examination of lesional DD skin shows the presence of abnormal keratinization (epidermal differentiation) and acantholysis (loss of cohesion) of keratinocytes. A number of clinical studies have described the co-occurrence of various neurological and psychiatric symptoms with DD, including mood disorders, epilepsy, mental retardation and a slowly progressive encephalopathy. A single locus for DD has been mapped to chromosome 12q23-q24.1, and a variety of missense, nonsense, frameshift and splicing mutations in the ATP2A2 gene have been described recently in families with DD. This gene encodes the sarcoplasmic/endoplasmic reticulum calcium-pumping ATPase SERCA2, which has a central role in intra-cellular calcium signalling. In this study, we performed mutation analysis on ATP2A2 in 19 unrelated DD patients, of whom 10 had neuropsychiatric phenotypes. We identified and verified 17 novel mutations predicting conservative and non-conservative amino acid changes, potential premature translation terminations and potential altered splicing. Our findings confirm that mutations in ATP2A2 are associated with DD. In neuropsychiatric cases, there was a non-random clustering of mutations in the 3' end of the gene ( P = 0.01), and a predominance of the missense type (70% versus 38% in DD patients). This supports the hypothesis that the DD gene has pleiotropic effects in brain and that mutations in SERCA2 are implicated in the pathogenesis of neuropsychiatric disorders.
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PMID:ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. 1044 25

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

Hallervorden-Spatz disease is a rare, autosomal-recessive hereditary condition characterized by early onset of progressive movement alterations such as dystonia, rigidity, and choreoathetosis, which is usually associated with pyramidal signs and mental deterioration. The authors report two cases for which diagnosis of Hallervorden-Spatz disease was based on clinical manifestations that appeared during the first year of life, illness progression, and late-stage magnetic resonance imaging findings. The possibility that these two cases, along with other previously described rare instances with similar clinical features, be considered as a variant of subtype of the early-onset type of Hallervorden-Spatz disease is suggested. The need to differentiate these cases from cases of static encephalopathy with mental retardation and motor impairment is also stressed.
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PMID:Hallervorden-Spatz disease: two new early childhood onset cases. 1064 7

This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial disorders based on a suggestive clinical presentation and at least one accepted criteria, while in five patients the diagnosis remained probable. All patients had nervous system involvement, but it was the presenting symptom in 28 of 42. Eighteen children had normal intelligence and 24 had mental retardation or developmental delay at the onset of their disease. Twenty-five patients had either an acute regression or a progressive encephalopathy. The most frequent neurologic manifestations were abnormal tone, seizures, extrapyramidal movements, and autonomic dysfunction. The eyes were involved in 11 children. Nerve deafness was found in seven patients. Myopathy was found in only six patients. In conclusion, a complex neurologic picture, especially with other organ involvement, warrants a full mitochondrial evaluation.
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PMID:Neurologic presentations of mitochondrial disorders. 1064 10

Myoclonic jerks occur in a number of different syndromes. There is many classifications of myoclonus. It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies. The epileptic syndromes of the last group are described. Despite this classification, apparently clear, there is still a great deal of confusion and in clinical practice, many cases are difficult to classify.
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PMID:[Myoclonus and myoclonic epilepsies in childhood]. 1071 97

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

The possible associations of myoclonic phenomenae, progressive or non-progressive encephalopathies and epileptic features are reviewed, with special emphasis on pediatric age. This leads to recognize the following five groups of conditions: (1) Myoclonus without encephalopathy and without epilepsy; (2) Encephalopathies with non-epileptic myoclonus; (3) Progressive encephalopathies presenting myoclonus seizures of epileptic syndromes (Progressive myoclonus epilepsies); (4) Epileptic encephalopathies with myoclonic seizures; (5) Myoclonic epilepsies. Within the first group, which also includes physiologic myoclonus, a more thorough description of "Benign sleep myoclonus of newborn" and "Benign myoclonus of early infancy" is given. Characteristics of group 2 are "Kinsbourne Syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnosis with stimulus-sensitive epilepsies. In group 3, the concept of progressive encephalopathies is stressed. The fourth group refers to severe epilepsies, mainly on infancy and childhood, which lead to mental retardation irrespective of their aetiology. Group 5 comprises the true myoclonic epilepsies, differentiating syndromes recognized as idiopathic--such as "Benign myoclonic epilepsy of infancy" and "Juvenile myoclonic epilepsy"--from those which are cryptogenic and carry a more cautious prognosis--as "Cryptogenic myoclonic and myoclonoastatic epilepsies" and "Severe myoclonic epilepsy of infancy". Other epileptic syndromes not usually considered as myoclonic epilepsies, but presenting sometimes as myoclonic seizures, are finally referred.
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PMID:Myoclonus and epilepsies. 1077 93

A cohort study at a tertiary care neonatal service was undertaken to determine the neurodevelopmental outcome of neonates who required intensive care. One hundred and nineteen nursery graduates were enrolled for follow up if they fulfilled any of the following risk factors: birth weight less than 1500 g, Apgar score less than 4 at 5 minutes, seizure(s), and required assisted ventilation for more than 24 hours. They were subjected to periodic clinical evaluation and administered the Bayley Scales of Infant Development in early childhood. Of the total infants enrolled, 101 completed the required follow up. They included 55 infants with birth weight < 1500 g, 45 with low Apgar scores, 12 with seizure(s) and 28 who received assisted ventilation. An overwhelming majority of subjects (85%) had normal neurodevelopmental outcome. The adverse outcome in the remaining 15 included mental retardation in all, subnormal motor development in 14, microcephaly in 1, hearing loss in 2 and visual impairment in 4. Among the neonatal risk factors, seizures, sepsis and hypoxic ischemic encephalopathy had a significant association with adverse outcome. Despite serious neonatal morbidity, the early neurodevelopmental outcome of nursery graduates was reasonably good. The association of neonatal sepsis with neurodevelopmental sequelae merits a prospective evaluation.
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PMID:Neurodevelopmental outcome of 'at risk' nursery graduates. 1077 50

Although for most children epilepsy is a relatively benign disorder, for some, epilepsy can be designated as "catastrophic" because the seizures are so difficult to control and because they are strongly associated with mental retardation. The catastrophic childhood epilepsies include uncommon disorders such as early infantile epileptic encephalopathy with suppression burst, severe myoclonic epilepsy of infancy, and epilepsy with myoclonic-astatic seizures. There are other syndromes that are relatively common such as infantile spasms, Lennox-Gastaut syndrome, and Sturge-Weber syndrome. Many children with catastrophic epilepsy have the seizures as a result of underlying brain abnormalities that will inevitably lead to mental retardation whether or not they have seizures. In some patients, however, the mental retardation appears to be caused by the seizures. Developmental plasticity provides children with an opportunity to recover from significant brain injuries. However, the plasticity may also be the cause of the mental retardation. In such patients, control of the seizures may lead to more normal intellectual development. Thus, every effort should be made to control seizures in children with catastrophic epilepsy.
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PMID:Catastrophic epilepsy in childhood. 1088 34


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