نتایج جستجو برای: west syndrome
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Aarskog syndrome (facio-digital-genital syndrome) was first described in 1970 by Dagfm Aarskog' who presented seven males from one family with a growth disorder and associated anomalies. A year later Scott2 reported three brothers with similar features and since then there have been over 100 cases published.3A20 We are aware of 12 subjects with Aarskog syndrome living in the west of Scotland (p...
Culture bound syndromes are generally limited to specific societies or cultural areas and are localized. Authors report a case which seems to be a new culture bound syndrome, has atypical presentation and difficult to categories but could be diagnosed as somatoform NOS (F-45.9). This syndrome is commonly called Gilahari (Lizard) among local public and considered to be very serious and fatal ill...
The metabolic syndrome, a clustering of metabolic risk factors, has been reported to be associated with the risk of cardiovascular disease (CVD) (1). Questions have been raised about which components of the metabolic syndrome are more strongly associated with CVD (2), whether other combinations of the components have stronger associations (3), and the role of waist circumference in the definiti...
In a patient with cardiofaciocutaneous syndrome complicated by intractable infantile spasms (West syndrome), cardiac hypertrophy developed during adrenocorticotropic hormone treatment. Various types of antiepileptic drugs, intravenous immunoglobulin, thyrotropin releasing hormone, and a ketogenic diet were ineffective in this case. However, vigabatrin both decreased clinical seizures and improv...
BACKGROUND Antibody-mediated and cytotoxic T cell-mediated pathogenicity have been implicated as the autoimmune pathophysiologic mechanisms in Rasmussen's encephalitis. METHODS The authors investigated autoantibodies against the NMDA glutamate receptor (GluR) epsilon2 subunit and their epitopes in serum and CSF samples from 15 patients with chronic epilepsia partialis continua (EPC), 17 with ...
Objective To describe electroclinical features and outcome of 6 patients harboring KCNB1 mutations. Methods Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel. Results The mean age at seizure onset was 11 months. The mean follow-up of 11.3 years documented that 4 patients following an infantile phase of frequent se...
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