A case of galactosemia misdiagnosed as cow’s milk intolerance

Abstract

We report on a female patient affected by galactosemia in whom the diagnosis was obscured by the concomitant presence of manifestations suggesting a cow’s milk intolerance. This case exemplifies the problems in reaching a correct diagnosis in patients with metabolic diseases.

Atypical late presentation of galactosemia

“…In our patient the suspected diagnosis of milk allergy was supported by the presenting gastrointestinal symptoms, response to dietary change, and lack of typical examination findings for galactosemia. Furthermore, the maintenance of a galactose-restricted diet into childhood may have masked development of overt manifestations of galactosemia; a similar case was reported by Della Casa et al 7 In our case, newborn screening for galactosemia was introduced after the younger brother's diagnosis. Newborn screening for galactosemia is now available in many countries and is based on evaluation of GALT activity and (or) total galactose levels.…”

Fulminant Skin Abscesses and Hepatic Failure: A Notorious Disease Hidden in Plain Sight

“…Diagnostic dilemmas often arise when galactosemia cases clinically mirror alternate diagnoses such as cow milk protein allergy, inborn errors of bilirubin metabolism, and immunodeficiency syndromes with sepsis. Galactosemia may co-exist/ trigger conditions like hemophagocytic lymphohistiocytosis [4][5][6][7]. Our reported case demonstrates a unique clinical presentation of galactosemia in the form of large, widespread, and recurrent skin abscesses, which have not been previously reported as per our extensive literature review.…”