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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Authors describe twelve children with diagnosis of tuberous sclerosis (TS) within the first year. All children had seizures, being infantile spasms in 7 cases (58%). All but one showed severe mental retardation. Hypopigmented patches in 2 (16.6%) and retinal phakoma in one case (8.3%). Skull Rx were normal in all cases, while the CT showed early intracranial calcifications in the 100% of the patients and areas of hypodensity in the 50%. The CT is the most useful test for the early diagnosis of TS when the clinical diagnosis has not been firmly established.
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PMID:[Usefulness of cerebral computed axial tomography in the early diagnosis of tuberous sclerosis]. 370 22

Clinico-pathological studies of West syndrome are rather rare. A case of sequelae of acute encephalopathy which involved a nine-month-old boy with post-mortem data is reported. Birth and postnatal development had been normal until the onset of illness. Laboratory examinations ruled out bacterial or viral meningo-encephalitis and metabolic disorders. After the recovery from a coma lasting several days, spastic quadriplegia, severe mental retardation and intractable epileptic attacks were present. The latter were made of tonic spasms and myoclonic seizures. EEG records showed hypsarrhythmia. Neuropathological examination revealed almost symmetrical bilateral cystic cavities in the pontine tegmentum and lateral nuclei of both thalami. The corpus callosum was very thin. No finding suggested a congenital anomaly. In a search of the pathological basis for infantile spasms, this case was compared with the published data. It would appear that the lesions of the pontine tegmentum play a significant role in the pathogenesis of hypsarrhythmia or infantile spasms.
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PMID:[An anatomo-clinical case of sequelae of acute encephalopathy. Infantile spasm with hypsarrhythmia]. 378 55

Two children of Austrian Ashkenazic Jewish background, related as second cousins, have a variant of opalescent dentin in their deciduous teeth. This has been classified by Witkop as Brandywine isolate hereditary opalescent dentin and by Shields as dentinogenesis imperfecta type III. One of the children also has dysmorphic facial features, seizures, and severe mental retardation. Her mother has dysmorphic facial features and mild mental retardation. The mothers of both children and several other family members have classic opalescent dentin (dentinogenesis imperfecta type II). Radiographs of the deciduous and permanent dentitions of one mother showed obliterated pulp chambers. Confirmation of obliterated pulp chambers in the deciduous teeth of the mother of a child with Brandywine isolate hereditary opalescent dentin makes it unlikely that classic opalescent dentin and Brandywine isolate hereditary opalescent dentin are separate genetic disorders. Evidence from this family supports the hypothesis that Brandywine isolate hereditary opalescent dentin is a variant of opalescent dentin.
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PMID:An unusual presentation of opalescent dentin and Brandywine isolate hereditary opalescent dentin in an Ashkenazic Jewish family. 385 21

The 9p- syndrome is a chromosomal disorder which is easily recognized by its characteristic craniofacial features. Neurologic abnormalities are evident in all reported cases, the most common of which is severe mental retardation. We add another case with unusual features including glaucoma, seizures, and polydactyly, and review the somatic and neurologic features from 41 previously reported cases.
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PMID:Neurologic aspects of the 9p- syndrome. 388 Mar 92

We report the case of a boy with 5,10-methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1/2 years of age. The main biochemical findings were homocystinaemia, homocystinuria, a normal methionine level in plasma and cerebrospinal fluid, an increased excretion of methionine in urine and a very low level of folate in the cerebrospinal fluid. The activity of 5,10-methylenetetrahydrofolate reductase was greatly reduced in the patient's lymphocytes and liver.
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PMID:5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case. 393 30

A 5-year-old boy with severe mental retardation and spastic quadriplegia accompanied by tonic seizures and hyperammonemia was diagnosed as having argininemia due to an arginase deficiency in his erythrocytes. His motor and mental abilities began to deteriorate at the age of 3 years. Thereafter, he lost his ability to stand alone, to sit and even to crawl by himself. After he was diagnosed as argininemia , a protein restricted diet was given as therapy, which was accompanied with a supplement of essential amino acids. However, his clinical condition had not improved very much. The erythrocytes in a normal person was found to have the ability to decrease the patient's elevated plasma arginine level to normal when they are mixed in vitro. First we tried replacing his red cells by a blood transfusion. Then we replaced them with the aid of an IBM 2997 blood cell separator. Following this his clinical and biochemical condition improved, and as a result so did his sitting and crawling abilities. It appears that the replacement of red blood cells improves not only the clinical and biochemical conditions, but the general condition of the patient as well.
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PMID:A successful trial of enzyme replacement therapy in a case of argininemia. 672 10

We describe in two brothers a previously apparently unreported multiple congenital anomalies/mental retardation (MCA/MR) syndrome of high, prominent forehead, vertical groove on tip of nose, "cowlick," ear anomalies, acrorenal field defect (incipient unilateral triphalangism, broad halluces, with unilateral renal agenesis in one of the boys), megalencephaly associated with congenital hypotonia, severe mental retardation and highly abnormal EEG without seizures, intrauterine growth retardation and primordial shortness of stature in one brother. This is a Group III ("provisionally private") MCA/MR syndrome and presumed to be due to a Mendelian (either X-linked or autosomal recessive) mutation. We do not think these patients have the FG syndrome. The condition has been named the neurofaciodigitorenal (NFDR) syndrome.
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PMID:The neurofaciodigitorenal (NFDR) syndrome. 708 Dec 97

Two groups of long-stay mentally subnormal epileptic patients, those with a chronically high seizure frequency and those who had become seizure-free, were studied for clinical and EEG factors relating to the prognosis of seizures. The mean period of observation was 20 and 22 years, respectively. All patients had a detailed clinical examination including psychometric testing, and for each, two EEG records were selected for blind semi-quantitative interrater analysis: an admission EEG and an EEG obtained within 6 months of the start of the study. Early onset of seizures, a high initial seizure frequency, multiple seizure types, upper motor neuron signs, and severe mental retardation characterized the seizure group. Significant admission EEG findings in this group included an absence of posterior dominant rhythmic activity, generalized delta activity, and frequent generalized paroxysmal discharges. Results of a linear discriminant analysis confirm that the admission EEG and clinical findings provide a basis for predicting outcome with a reliability on the order of 80%.
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PMID:Seizure prognosis in long-stay mentally subnormal epileptic patients: interrater EEG and clinical studies. 737 66

Two siblings with the "happy puppet" syndrome are presented. Their clinical features are quite similar and closely resemble those of previously reported cases. These features include severe mental retardation, epileptic seizures, easily provoked and prolonged paroxysms of laughter, atactic jerky movements, hypotonia, large mandible with prognathia, and 2-3 cps spike and wave activity in the EEG. The occurrence of this syndrome in the two siblings suggests a genetic etiology possible as an autosomal recessive trait.
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PMID:The "happy puppet" syndrome in two siblings. 745 Jul 80

A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal recessive disorder because of recurrence in sibs. The main features include ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. We report a fifth child with the condition, confirming the unique nature of the condition. Long term follow up information on this patient, as well as the previously described cases, provides information regarding the outcome for these patients, which includes general good health, severe mental retardation, seizures that worsen after puberty, conductive hearing loss, and chronic migratory ichthyosiform skin rash without scarring.
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PMID:Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. 766 99


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