A case of visceral myopathy with ATCG2 gene mutation misdiagnosed as Hirschsprung disease

Abstract

Objective To discuss the clinical features, differential diagnosis and complication treatment of a patient with genetic visceral myopathy. Methods Medical history, physical examination and laboratory results of the patient were collected in detail. The pathology of previous surgery was reviewed. The patient's peripheral blood DNA was extracted and submitted for whole-exome sequencing. Subsequent Sanger sequencing was used to complete the pedigree verification of the mutation site. Results The patient was a young female presented with repeated incomplete intestinal obstruction since early childhood. She used to be misdiagnosed as Hirschsprung's disease for a long period and underwent multiple gastrointestinal segment resections. Her intestinal obstruction symptoms were temporarily relieved by surgeries, but severe diarrhea, mucus and bloody stools and malnutrition gradually occurred after the last operation. The patient had bacterial overgrowth in small intestinal tract and followed by intestinal opportunistic infections secondary to chronic intestinal pseudo-obstruction. The symptoms improved after anti-infection and enteral element diet treatment. Further pathological consultation and whole-exome gene sequencing confirmed the diagnosis of visceral myopathy related to ATCG2 R148L mutation. Conclusions Patients with early onset of chronic intestinal pseudo-obstruction and have poor response to conventional treatment are recommended to perform genetic test. The patients with hereditary visceral myopathy are susceptible to opportunistic intestinal infection. Attentions should also be paid to the prevention and treatment of complications to avoid unnecessary surgery.

Keywords

• chronic intestinal pseudo-obstruction|intestinal opportunistic infections|visceral myopathy|hirschsprung disease