ABSTRACT
Objective:To investigate the clinical features of encephalocraniocutaneous lipomatosis (ECCL).Methods:The clinical characteristics, imaging manifestations and electroencephalogram changes of five patients with ECCL from Guangdong 999 Brain Hospital between December 2016 and February 2019 were collected and analyzed.Results:All five cases showed ocular, skin and central nervous system anomalies. Corneal anomalies were found in five cases, eyelid coloboma in three cases, calcification of the globe in two cases, and choristoma in one case. All five cases presented with naevus psiloliparis, three cases with small nodular skin tags on eyelids, and three cases with café-au-lait spots on the trunk. Dysplasia of the right cerebral hemisphere was observed in all five cases, four cases with enlargement of the right ventricle, three cases with arachnoid cysts, and one case with dysplasia of the corpus callosum. The onset of the seizures of five cases was found within one year old. Spasms were observed in five cases, partial seizure in three cases, and tonic seizure in one case. Five cases were drug-resistant epilepsy. Seizures decreased significantly after adrenocorticotropic hormone treatment in one case and seizures free after surgery in one case. One case had seizure free by corpus callosotomy, but had a relapse after four months. Three cases used ketogenic diet, including one case with epileptic seizure reduction, one case with development progress. All five cases had developmental delays. The exon gene sequencing of four cases was found normal. KRAS gene mutation was found in brain tissue of one patient.Conclusions:ECCL is a rare clinical disease that often involves the nervous system, skin and eyes. The seizures of the patients are often difficult to control and have development delays. Surgery may be necessary to control the seizures. ECCL is thought to be somatic mutations, which are hard to detect in the blood and can be found in affected tissues.
ABSTRACT
<p><b>OBJECTIVE</b>To explore the influence of verbal working memory load on associative neural networks.</p><p><b>METHODS</b>Twenty-one subjects were required to complete a verbal delayed matching-to-sample task under the condition of low (3 items) or high (5 items) working memory load (WML). The 19-channels event-related potentials (ERP) were analyzed with statistical parametric mapping.</p><p><b>RESULTS</b>A significant difference in working memory capacity (WMC) was found between low WML and high WML groups [2.48∓0.30 vs 3.30∓0.76; t(20)=5.950, P=0.000]. Statistical parametric mapping revealed that during the encoding stage, the effects of WML appeared in succession in the right ventral attention network (rVAN), the dorsal attention network, and the language areas in the left hemisprere. During the maintenance stage, the effects WML occured in the rVAN acompanied by either DAN or left frontal-temporal regions. CONCLUSIONS;onclusions When the WML is beyond the WMC, the rVAN may participate in the prevention of interference among items and in the activation of long-term memory.</p>