Meconium peritonitis in multiple intestinal atresia with combined immune deficiency caused by a TTC7A mutation: A case report

• Published in: SAGE open medical case reports Vol. 12; p. 2050313X241227129
• Main Authors: Chen, Jiongfei, Chen, Meiwen, Lin, Ya, Li, Xiangjuan
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01.01.2024; Sage Publications Ltd
• Subjects: Case Report; Feces; Fetuses; Mutation; Peritonitis; gastrointestinal diseases; tetratricopeptide repeat domain 7A; severe combined immunodeficiency; Peritonitis; fetus
• ISSN: 2050-313X; 2050-313X
• DOI: 10.1177/2050313X241227129

Multiple intestinal atresia with combined immune deficiency is a severe autosomal recessive disorder caused by the tetratricopeptide repeat domain 7A (TTC7A) gene deficiency, which is characterized by extensive intestinal defects with immune deficiency. This report describes a fetus with TTC7A deficiency who developed meconium peritonitis in utero. Evidence suggests that patients with TTC7A deficiency present with intestinal defects as early as in utero. In this case, intestinal abnormalities were considered during the prenatal examination at week 28, and chromosome and genetic tests were performed. The results indicated that the fetus had a TTC7A complex heterozygous mutation. The male infant underwent surgical treatment after birth and developed severe infection and sepsis, which confirmed the presence of multiple intestinal atresia with combined immune deficiency. Our case suggests an association between meconium peritonitis and the TTC7A gene deficiency, indicating the possibility of severe intestinal defects and immune deficiencies after birth and guiding subsequent fetal treatment choices.