Background: Celiac crisis (CC) is a rare, life-threatening manifestation of often undiagnosed or inadequately treated celiac disease (CeD). We report a case of a 14-month-old infant presenting with extraintestinal features of CC, including electrolyte derangement, hypoalbuminemia, malnutrition, and neurological dysfunction complicated by intussusception.
Case Presentation: A 14-month-old previously healthy female presented with marked abdominal pain, distension, lethargy, regression of motor skills, and vomiting in the absence of diarrhea over one month. Her weight had declined over four months, falling from the 50th to 22nd percentile. Preliminary abdominal ultrasound suggested intussusception vs. volvulus.
Diagnostic work-up revealed elevated tissue transglutaminase IgA (128 U/mL; upper limit of normal, 7 U/mL), hypoalbuminemia (2.6 g/dL), hypophosphatemia (3.0 mg/dL), anemia (hemoglobin 11.5 g/dL), low vitamin D-25-OH (9 ng/mL), and low zinc (56 mcg/dL). Stool studies showed elevated alpha-1-antitrypsin (1.13 mg/g) and fecal calprotectin (149 mcg/g). Abdominal x-ray demonstrated air-fluid levels, prompting a computed tomography scan that revealed several short-segment small bowel-small bowel intussusceptions.
Histopathology showed increased intraepithelial lymphocytes (>40 per 100 epithelial cells) and marked villus atrophy of the duodenum, confirming CeD with Marsh-Oberhuber 3B classification.
The infant’s symptoms, nutritional status, and neurological function improved by day three of starting a gluten-free diet, and normalized at one-month follow-up.
Discussion: We present the youngest known presentation of suspected CC in North America. Despite having extraintestinal manifestations seen in CC, the infant’s lack of diarrhea and slow progression of gastrointestinal symptoms would be atypical for CC under current diagnostic criteria. Revising guidelines could broaden the clinical spectrum of CC, allow stratification by severity, and better account for potential comorbidities, such as intussusception.
Conclusion: CC is a severe consequence of unrecognized CeD in children that should be clinically assessed given the mortality risk. Further studies are needed to clarify distinct phenotypes of infantile-onset CeD linked to more severe CC.