Intestinal tuberculosis with multiple intestinal perforations in a 5-month-old infant: The role of metagenomic next-generation sequencing: a case report and literature review

RATIONALE: Intestinal tuberculosis (ITB) is a chronic infectious disease caused by Mycobacterium tuberculosis complex and is relatively rare in infants. However, severe complications such as intestinal perforation can pose significant clinical challenges. We report the clinical features, diagnosis, and therapeutic management of intestinal perforation caused by ITB in an infant. PATIENT CONCERNS: A 5-month-old male infant presented with fever and abdominal distension, which progressed to intestinal obstruction and multiple perforations involving the distal ileum and appendiceal region. The clinical presentation was atypical. DIAGNOSES: The diagnosis was established through surgical exploration and metagenomic next-generation sequencing (mNGS).Conventional investigations, including the tuberculin skin test using purified protein derivative and interferon-gamma release assay, were negative. mNGS of peritoneal drainage fluid detected mycobacterium tuberculosis complex with 2868,520 sequence reads, and Ziehl-Neelsen staining of mesenteric nodule specimens was positive for acid-fast bacilli. INTERVENTIONS: The infant underwent surgical intervention for the intestinal perforations, followed by the standard four-drug anti-TB regimen (rifampicin, isoniazid, pyrazinamide, and ethambutol) together with linezolid, imipenem, and amikacin. OUTCOMES: The infant showed substantial clinical improvement, with weight gain and encouraging developmental progress; although the ileostomy remains in situ, closure is planned after full nutritional recovery. To our knowledge, this is among the youngest reported cases of postnatally acquired primary ITB presenting with multiple intestinal perforations in an infant without a known history of TB exposure. LESSONS: In infants with severe unexplained intra-abdominal infection and inconclusive conventional TB investigations, mNGS may facilitate the early diagnosis of ITB. Timely surgical intervention combined with anti-TB therapy may improve outcomes in these critically ill patients.