Anemia Due to Familial Vitamin B12 Deficiency: About 3 Cases

Abstract

Vitamin B12 deficiency is a rare pathology in the paediatric population, most often due in our Moroccan context to a deficiency in intake. However, in rarer cases, it may be the result of an inborn anomaly in cobalamin transport or metabolism. A well-codified diagnostic approach can clarify the nature of the deficiency and adapt therapeutic options. We report 03 pediatric cases of three brothers treated for vitamin B12 deficiency. Diagnosed at 8, 4 and 3 years of age, they all presented with a severe anemic syndrome and delayed stature, two of them had seizures, and the elder brother was also delayed at school. Given the familial nature of the disease and the presence of proteinuria in 2 patients, Imerslund-Grasbëck disease was suspected in our patients. Treatment was based on parenteral vitamin B12 supplementation, with good clinical and biological progression in our patients. Vitamin B12 deficiency is a metabolic emergency and should be considered in the presence of hematological and neurological disorders. Although Imerslund-Gräsbeck disease is rare, it should be suspected and proteinuria investigated.