Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty-nine cases of primary intracranial arachnoid cyst in the elderly, including one case of our own, were analyzed. Clinical characteristics in these patients were as follows. (1) The number of patients decreased with age, but there were no differences according to sex. (2) Clinical manifestations were similar to those of chronic subdural haematoma or normal pressure hydrocephalus including dementia, urinary incontinence, and hemiparesis. General symptoms such as headache and seizures were also present. (3) Surgery was performed in most patients with generally good outcome regardless of operative procedures (capsular resection vs. shunt). (4) In some cases of advanced age, disease manifestation may have been due to slight head injuries.
 ...
PMID:Primary intracranial arachnoid cyst in the elderly: a survey on 39 cases. 179 42

Partial trisomy of chromosome 5 was first described by Lejeune et al. in 1964 on the short arm (12). The vast majority of the partial trisomy 5 cases include 5p duplications; however we reported a small supernumerary marker chromosome. General symptoms include developmental delay, mental retardation, seizures, respiratory difficulties, congenital heart defects, abdominal muscle hypoplasia and dysmorphic features such as macrocephaly, enlarged anterior fontanelle, dolichocephaly, upslanting palpebral fissures, epicanthal folds, hypertelorism, abnormal ears, midface hypoplasia, short nose, broad nasal bridge and microretrognathia. Arachnodactyly and club foot may be seen as cytoskeletal abnormalities and, hypotonia may be determined in neurological exam. Here we reported a case with developmental delay, attention deficit hyperactivity disorder, mild mental retardation and dysmorphic features, caused by a new small supernumerary marker chromosome, generating partial trisomy 5pI 2-q 11.2. To our knowledge, this small supernumerary marker chromosome has not been reported before. Severe type of partial trisomy 5 includes seizures, congenital heart defects, hypotonia and failure to thrive. Previously reported partial trisomy 5 cases, who showed severe phenotype, had usually duplicated 5p13 region. Therefore, patients, who do not have duplicated 5p13, showed mild phenotype. Also, duplication of the long arm of chromosome 5, may contribute to the milder phenotype and the longer survival in partial trisomy 5 patients. Attention deficit hyperactivity disorder, which we described in the present case, may be a result of partial trisomy 5, because it includes ADHD4 gene. This case may help better understanding the karyotype/phenotype correlation related to partial trisomy 5.
 ...
PMID:PARTIAL TRISOMY 5p12-q 11.2 RESULTING FROM A MARKER CHROMOSOME: A NEW CASE REPORT WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER. 3020 59