The significance of skin and facial behaviors characteristics in identifying the etiology of childhood epilepsy / 中华实用儿科临床杂志

ABSTRACT

Objective:To explore the significance of skin and facial behaviors characteristics identifying the etiology of childhood epilepsy.Methods:Clinical data of 53 epilepsy children with skin and facial behaviors treated in the inpatient/outpatient of Children′s Hospital of Nanjing Medical University from August 2013 to August 2019 were retrospectively analyzed.Relevant case reports were reviewed through literature review.Results:All 53 children were diagnosed with epilepsy, including 28 cases diagnosed as tuberous sclerosis with the clinical clue of depigmentation spots, 5 cases diagnosed as cerebrovascular hemangioma with the clinical clue of crimson nevus, 5 cases diagnosed as mitochondrial brain disease combined with lactic acidosis and stroke like attack with the clinical clue of hairy and thin body, 5 cases diagnosed with Menkes disease with the clinical clue of sparse and curling hair and white skin, 1 case diagnosed as Alexandria disease with the clinical clue of large head circumference, 1 case diagnosed as giant cerebral leukodystrophy combined with subcortical cysts with the clinical clue of large head circumference, 1 diagnosed as type Ⅰ glutaric acidemia with the clinical clue of large head circumference, 2 cases diagnosed as Angelman syndrome with the clinical clue of happy face and mental retardation, 2 cases diagnosed as Rett syndrome with the clinical clue of stereotyped hand behavior, 1 case diagnosed as Aicardi-Goutières syndrome with the clinical clue of skin pigmentation and loss of spots, 1 case diagnosed as microdeletion of chromosome 1 with the clinical clue of wide eye distance and tooth loss, and 1 case diagnosed as neurofibromatosis with the clinical clue of café-au-lait-spots.Supported by the above characteristics, all cases had a clear diagnosis by imaging or genetic testing.Conclusions:characteristics of skin and facial behaviors is of great significance in the diagnosis of epilepsy etiology, and proficiency in the skin and facial behavior characteristics of childhood neurological diseases is conducive to the etiological diagnosis of epilepsy.