P3.G139: Consumed by Consumption: Diagnostic and Treatment Challenges in a Case of Pediatric Disseminated Tuberculosis

Introduction: Tuberculosis (TB) persists as a significant public health challenge in the United States (US), with an annual incidence of 2.5 per 100,000. In New Orleans, the incidence in 2022 was 4.1 per 100,000. The diverse manifestations of TB, particularly its extrapulmonary forms, pose challenges to timely diagnosis. This is especially true in children, who represent only 4% of US TB cases. Delayed diagnosis can lead to severe complications and mortality. There is a critical need for more literature to aid in early recognition of this potentially fatal disease. Here, we present a case of a 16-month-old female with disseminated tuberculosis.

Case Description: A previously healthy 16-month-old female born in the US to immigrant parents presented to the emergency room with a several month history of refusal to walk, decreased oral intake, fevers and weight loss. Clinical examination revealed abdominal distension, irritability and bilateral lower extremity weakness with hyperreflexia. The initial differential diagnosis encompassed neurologic, infectious, rheumatologic, and oncologic disorders.

Extensive diagnostic work-up revealed hypoenhancing liver and diffuse dilatation of the small bowel on abdominal computed tomography (CT) imaging. Brain magnetic resonance imaging (MRI) depicted scattered enhancing nodular foci, concerning for infectious, inflammatory, or metastatic processes. Cerebrospinal fluid studies were unremarkable and blood tests demonstrated evidence of inflammation and malnutrition. A purified protein derivative (PPD) test was negative, however, she had multiple positive tuberculosis interferon-gamma release assays (IGRA), prompting the initiation of anti-TB therapy. The patient’s parents were subsequently diagnosed with and treated for latent TB.

She was started on rifampin, isoniazid, pyrazinamide, and ethambutol (RIPE) therapy with a steroid taper for central nervous system involvement. Despite initial improvement, she had persistent poor oral intake and weakness, which necessitated conversion of her anti-TB therapy to an intravenous regimen and surgical intervention for gastrostomy tube placement. She was found to have extensive granulomas in the abdomen during the procedure, which required exploratory laparotomy and partial small bowel resection (Figure 1). Subsequently, she was transitioned to an oral antibiotic regimen monitored with serum drug levels, which led to a significant improvement and near return to baseline.

Discussion: This case highlights how pediatric TB, especially when extrapulmonary, can mimic more common diseases processes. This can lead to delays in appropriate treatment. It underscores the difficulty in diagnosing pediatric TB given it is generally smear negative, and because current diagnostic tests have significant limitations. Furthermore, it illustrates the challenges in managing pediatric extrapulmonary TB, particularly in cases complicated by extensive disease burden.

Conclusion: Clinicians should maintain a high index of suspicion for extrapulmonary TB in children presenting with nonspecific symptoms, even in the absence of obvious exposure history. Further research is needed to refine diagnostic strategies and optimize management approaches, ensuring prompt diagnosis and effective treatment of pediatric TB.