ABSTRACT
We reported a case of microcephaly-capillary malformation(MIC-CAP)caused by STAMBP gene variant,in order to improve the clinical diagnosis and treatment.The patient is a 3-month-old male with recurrent convulsions and the main clinical manifestations are multiple forms of seizures,microcephaly,multiple small capillary malformations in the skin,and generalized hypotonia.The genetic test showed that a heterozygous variant in the STAMBP gene was present in the child.Both parents were heterozygous carriers.He was administrated various anti-seizure medications and ketogenic diet,but still had frequent seizures.He then underwent corpus callosotomy,and was followed up until he was 4 years and 10 months old.The post operational outcome was grade IV on Engel's classification.Based on the clinical data of 22 patients in literature,in addition to severe psychomotor retardation,microcephaly,and cutaneous capillary malformations,early-onset drug-refractory epilepsy is also a major feature of MIC-CAP syndrome,which is clinically rare and has a poor prognosis;Callosotomy may help to reduce seizures in the short term.However,the long-term outcome is poor.STAMBP gene is the main responsible gene for this syndrome.
ABSTRACT
Objective To investigate the clinical application and effect of pick-stab skill in eyebrow embroidery.Methods From July 2015 to January 2016,36 cases were selected to receive eyebrow embroidery with pick-stab skill in our department,including 1 male and 35 females.The cosmetic outcomes,complications and satisfaction rate were observed in these cases.Results In these 36 cases,14 cases were colored in one time,19 cases were colored twice,and 3 cases were more than 3 times.All patients were followed up for 6 months.The color of the eyebrow was natural,and the blue color was not existed.Conclusions The pick-stab skill in eyebrow embroidery is worthy in clinic with better cosmetic effect,higher success rate and safety.