Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1) Etiology of convulsions starting prior to two years of age was discussed in 418 cases. Neonatal seizures before 30 days old appeared in 86 cases (53 boys and 33 girls). Three hundred and thirty-two patients (172 boys and 160 girls) had convulsions in infancy. Twelve patients (9 boys and 3 girls) suffered from convulsions both in neonatal and infantile period. 2)Etiology of convulsions was prenatal in 67 cases (16%), natal in 49 cases (12%), postnatal in 158 cases (38%) and unknown in 144 cases (34%). Prenatal factors consisted of cerebral malformation (23 cases, 6%), associated physical minor anomaly such as cataracta or finger abomaly (11 cases, 3%), abnormal pernatal history (8 cases, 2%), congenital heart disease 3) cases, 1%), tuberose scleorsis (7 cases, 2%) and positive family history (13 cases, 3%). Postnatal causes included hypocalcemia or hypoglycemia (7 cases, 2%), brain tumors (3 cases, 1%), breath-holding spells (21 cases, 5%), febrile convulsion (44 cases, 11%), bathing (3 cases, 1%), afebrile colds (3 cases, 1%), purulent meningitis (17 cases, 4%), DPT immunization (10 cases 2%), vaccination (7 cases, 2%) and acute hemiplegia (10 cases, 2%). The group of unknown etiology were as fns (38 cases, 9%), epilepsy associated with interictal signs (23 cases, 6%), benign infantile convulsions (57 cases, 14%), neonatal convulsion of unknown etiology (12 cases, 3%) and miscellaneous categories (4%). 3) Pregnancy was abnormal in 53% of cases with cerebral malformation. Asphyxia at birth was noted in 43% of patients with tuberose sclerosis and in 35% of congenital cerebral abomaly. 4) Pneumoencephalographic examinations revealed midline anomaly in 50% of cerebral malformation. It was abnormal in all cases with tuberose sclerosis, head injury and epilepsy with interseizure neurological signs. 5) There were no correlations between the seizure pattern and the etiology in neonatal convulsion. In infancy, focal-unilateral convulsions and infantile spasms were frequently associated with organic damages. Generalized seizures were seen in organic lesions as well as functional ones although approximately half of the cases were febrile convulsion, benign infantile convulsion or breath-holding spell. 6) EEG features of cerebral malformation were asymmetrical or multifocal dischages in neonatal period and hypsarhythmia or focal-unilateral spike discharges in infancy. Tuberose sclerosis showed hypsarhythmia in infancy. In birth injury or cerebral anoxia, EEG mostly revealed focal-unilateral abnormality or suppression-burst activity in newborns and hypsarhythmia or focal features in infants. 7) The occurrence rate of neonatal seizures in autopsy cases with intracranial pathology was demonstrated. EEG with intravenous diazepam was useful to know pathophysiology of infantile spasms.
 ...
PMID:Etiology of convulsions in neonatal and infantile period. 99 19

How the concept of the tuberous sclerosis complex (TSC) has developed over a period of time spanning 160 years has come form simple clinical observations, pathological studies and technological advances of imaging methods. It all began with PFO Rayer's color plate of a drawing of a patient who apparently had facial angiofibroma, published in the year 1835, and continued with von Recklinghausen's report of cardiac myomas and cerebral sclerosis in a newborn who had died minutes after birth. The seminal contribution was provided by D.M. Bourneville who, in 1880, reported and named as tuberous sclerosis the neuropathological findings in a young patient with seizures, hemiplegia, and mental subnormality who also had renal tumors. We now know that TSC is a hamartomatosis, and thanks to studies of recent years using positional cloning and DNA analysis, we are beginning to understand the biological mechanisms of these disorders which include NF1, NF2 and von Hippel-Lindau disease. Unique to TSC is that it is both phenotypically and genotypically heterogeneous. One of two suspected genes found in chromosome 16 by positional cloning has been cloned (TSC2). Another one that was discovered earlier in chromosome 9 (TSC1) has not yet been characterized. The gene product from TSC2 has been named tuberin.
 ...
PMID:History of the tuberous sclerosis complex. 888 73

Neuro-ocular cutaneous syndrome is a rare and little-known illness. It affects the ocular apparatus, the nervous system and the skin. The disease causes pathologies such as phacomatosis, which is a generic term used to describe small cutaneous neoformations, as well as other ectodermal organ malformations (ocular apparatus and central nervous system). The symptoms of this disease are ocular, neurological and dermatological and can include: corneal opacity, papillary coloboma, optical atrophy, epibulbar dermoids, corectopia, palpebral coloboma, frontoparietal alopecia, epilepsy, psychomotor delay, pedunculated skin growths, a yellowing of the frontal area, milled papules, milled patches of skin, cutaneous spotting, familial angioma and hemiplegia. Due to the complexity of this disease, it is imperative that specialists (including ophthalmologists, neurologists, dermatologists, plastic surgeons, pediatricians and genetics) examine a great number of families affected by this rare pathology in a precise, accurate and ongoing manner. The clinical case of a 15 year-old patient (who was diagnosed at 10 months old) affected by the neuro-ocular cutaneous syndrome will be discussed below.
 ...
PMID:Neuro-ocular cutaneous syndrome: a case report. 1975 53

Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders, such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including tuberous sclerosis complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of single-gene causes or susceptibility factors associated with several epilepsy syndromes, including the early-onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look toward the future of epilepsy genetics.
...
PMID:Genetic forms of epilepsies and other paroxysmal disorders. 2519 5