Clinical study of neonatal convulsions and inherited metabolic diseases
PENG Wan-Lei1, DAI Wei2, CHEN Juan1, TANG Jun1, WANG Hua1
PENG Wan-Lei1, DAI Wei2, CHEN Juan1, TANG Jun1, WANG Hua1 (1.Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, Chengdu 610041, China; 2.Department of Clinical Laboratory, West China Second University Hospital , Sichuan University, Sichuan, Chengdu 610041, China)
Abstract: Objective To explore the etiology and related factors of neonatal convulsions and provide evidence for clinical diagnosis and treatment. Methods From January 2013 to June 2016, in the West China Second University Hospital, 81 patients who were diagnosed with neonatal convulsions and 79 ones who were screened for genetic metabolic diseases were included. A retrospective study was conducted to analyze the basic conditions, etiology, outbreak, prognosis and the hereditary metabolic results of these cases. Results The primary cause of neonatal convulsions was intracranial hemorrhages, which were 19 cases (23.5%, 19/81). There were 31 cases of patients with metabolic disorders, including 13 cases of electrolyte disturbance (16.0%, 13/81), 12 cases of hypoglycemia (14.8%, 12/81), 6 cases of metabolic acidosis and other metabolic disorders (7.4%, 6/81). In the 81 cases with neonatal convulsions, 9 cases screened inherited metabolic disease, and 4 cases were diagnosed de?nitively. 1 case lost to follow-up after giving up treatment. 1 case showed psychomotor retardation. 2 cases were recovery with no convulsions after treatment. Among the 79 genetic metabolic diseases screening cases, 8 cases was con?rmed, 4 cases showed different degrees of neurological sequelae, and 2 cases were with abnormal physical development. Conclusions The causes of neonatal convulsions are complex and associated with intracranial hemorrhage, hypoxic ischemicencephalopathy (HIE), metabolic disorders and genetic metabolic diseases. The screening of genetic metabolic diseases should be strengthened, so as to identify and treat the possible metabolic diseases in the early stage, then to prevent the neurological injury progressing.
2018, Vol. 6 
