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Open Access A formula-fed infant with profound dehydration, cerebral venous sinus thrombosis, and intracranial hemorrhage

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Background:

Chronic food protein‐induced enterocolitis syndrome (FPIES) is a cell-mediated gastrointestinal food hypersensitivity described almost exclusively in infants fed cow’s milk or soy formula. A timely diagnosis is challenging due to a number of factors, including broad differential diagnoses, absence of specific biomarkers, and delayed symptom onset.

Objective:

This report aimed to highlight how the severity of presentation can further impede a timely diagnosis in chronic FPIES.

Methods:

A case of presumed chronic FPIES to soy with previously unreported complications of intracranial hemorrhage and cerebral venous sinus thrombosis was described.

Results:

We reported a case of a female infant fed a soy formula who presented during the third week of life with intermittent and progressive emesis, diarrhea, and lethargy, which culminated in severe dehydration, with early hospital course complications of seizures, intracranial hemorrhage, and cerebral venous sinus thrombosis. Although not recognized until weeks into the hospital course, many of the presenting symptoms and laboratory abnormalities were characteristic of chronic FPIES. An ultimate consideration of FPIES led to transition to amino acid‐based formula and gradual resolution of gastrointestinal symptoms. Close outpatient follow-up was essential in facilitating subsequent age-appropriate solid food introduction.

Conclusion:

The severity of presentation in FPIES can represent an additional barrier to a timely diagnosis. Early consideration of this entity in the differential diagnosis of patients with typical FPIES features, regardless of the additional presence of atypical and severe complications, may help with more timely recognition and intervention. In addition, there is an increased need for close follow-up as an outpatient in severe FPIES cases.

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Keywords: FGA gene; FPIES; dehydration; diagnostic delay; food protein-induced enterocolitis syndrome; intracranial hemorrhage; oral food challenge; sinus venous thrombosis; skin prick test; soy

Document Type: Case Report

Affiliations: 1: From the Allergy and Immunology Unit, Massachusetts General Hospital, Boston, Massachusetts 2: Allergy and Immunology Division, Icahn School of Medicine at Mount Sinai, New York, New York 3: Pediatric Critical Care Medicine, Weill Cornell Medicine, New York, New York 4: Allergy and Immunology, NYU Grossman School of Medicine, New York, New York 5: Allergy and Immunology, Weill Cornell Medicine, New York, New York

Publication date: April 1, 2021

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