Case 01 (2023): Neonatal lupus syndrome manifested by metabolic disease: a case report
10.3760/cma.j.cn113903-20230921-00225
- VernacularTitle:病例01（2023）：以代谢病为主要表现的新生儿狼疮综合征1例
- Author:
Junting LI
1
;
Xiaojuan TANG
;
Laishuan WANG
;
Hua WANG
;
Zheng CHEN
;
Ana HOU
;
Youguo CHEN
;
Min LI
;
Qin HUANG
;
Fangcan SUN
;
Bing HAN
;
Xin DING
Author Information
1. 苏州大学附属儿童医院新生儿科，苏州 215025
- Keywords:
Metabolic diseases;
Lupus erythematosus, systemic;
Amino acid metabolism, inborn errors;
Infant, newborn
- From:
Chinese Journal of Perinatal Medicine
2023;26(11):950-954
- CountryChina
- Language:Chinese
-
Abstract:
This paper reports a case of neonatal lupus syndrome manifested by metabolic disease. A male neonate was admitted to the Children's Hospital of Soochow University due to poor response and vomiting for 1 day. Based on the clinical symptoms, including the patterned skin and a full anterior fontanelle, and a result of leukocytosis, neonatal sepsis was considered. Lysinuric protein intolerance was not excluded from the genetic metabolic disorders screening. The patient was positive for lupus-related autoantibodies and antinuclear antibodies, which were also found in his mother and elder sister. He had no functional variant of the SCL7A7 gene, a gene related to lysinuric protein intolerance, thereby the diagnosis of neonatal lupus syndrome manifested by metabolic disorders was confirmed. After treatment with methylprednisolone, the patient recovered well with no specific change in blood genetic metabolism at re-examination. Monthly follow-up after discharge found decreased antibody titers.
