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2026, Number 2

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Rev Mex Pediatr 2026; 93 (2)

Diagnosis of neonatal hemochromatosis through fundus examination

Rivera-Comparán EA, Rodríguez-Páez IV, Peregrino-Bejarano L, Siordia-Reyes G, Vázquez-Lara Y

Language: Spanish
References: 15
Page: 77-81
PDF size: 1916.71 Kb.


ABSTRACT

Introduction: neonatal hemochromatosis (NH) is a rare disease characterized by severe liver damage secondary to gestational alloimmune liver disease. The diagnosis of NH requires the demonstration of extrahepatic hemosiderosis by biopsy or imaging studies. Objective: to present a patient with NH in order to improve the identification of similar cases and to propose fundus examination as part of the diagnostic process, as an alternative for detecting iron deposits in the retina. Clinical case: a four-month-old female patient with hypoglycemia since birth, who progressed to failure to thrive, hepatomegaly, ascites, coagulopathy, thrombocytopenia, and hyperferritinemia. Fundus examination revealed pigmentary changes localized in the macular area and in the equatorial and peripheral retina of both eyes. The patient died of septic shock. Autopsy revealed hepatic cirrhosis with ductal proliferation, cholestasis, and hemosiderosis, as well as iron deposits in the spleen and pancreas. Conclusions: fundus examination is a non-invasive method that can contribute to the early diagnosis of NH.


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