hydroxocobalamin and Failure-to-Thrive

We describe 2 children with cobalamin G disease, a disorder of vitamin B

Topics: Anemia, Megaloblastic; Blood Chemical Analysis; Blood Transfusion; Child, Preschool; Disease Progression; Early Diagnosis; Failure to Thrive; Hematologic Tests; Humans; Hydroxocobalamin; Infant; Injections, Intramuscular; Male; Prognosis; Risk Assessment; Severity of Illness Index; Thrombotic Microangiopathies; Treatment Outcome; Vitamin B 12 Deficiency

Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels.. Herein, we describe the findings at presentation of four patients who were diagnosed to have transcobalamin II deficiency with novel mutations.. These patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106+1516-1222+1231del).. Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, failure to thrive, diarrhea, and vomiting.. Amaç: Transkobalamin II eksikliği nadir bir kalıtsal B12 vitamini bozukluğudur. Defektin B12 vitamininin transportu ile ilgili olması nedeniyle hastalar normal ya da yüksek B12 vitamini düzeylerine eşlik eden yüksek homosistein ve metilmalonik asit düzeylerine sahiptir. Gereç ve Yöntemler: Bu çalışmada transkobalamin II eksikliği tanısı alan dört hasta sunulmuştur. Bu hastalarda daha önce bildirilmemiş yeni mutasyonlar saptanmıştır. Bulgular: Hastaların ikisinde aynı büyük delesyon olduğu görülmüştür (homozigot c.1106+1516-1222+1231del). Sonuç: Pansitopeni, büyüme geriliği, ishal ya da kusması olan tüm bebeklerde transcobalamin II eksikliği ayırıcı tanıda düşünülmelidir.

Topics: Anemia, Megaloblastic; beta-Thalassemia; Bone Marrow; Chromosomes, Human, Pair 22; Codon, Nonsense; Consanguinity; Failure to Thrive; Female; Folic Acid; Frameshift Mutation; Genotype; Humans; Hydroxocobalamin; Infant; Male; Mutation; Mutation, Missense; Pancytopenia; Sequence Deletion; Transcobalamins; Vitamin B 12; Vomiting

We report case of an infant who presented with failure to thrive and developmental delay at 4 months of age. He was diagnosed to have vitamin B12 deficiency and antibodies to intrinsic factor secondary to undiagnosed maternal pernicious anemia. The child was treated with hydroxocobalamin and now at 2 years of age, he is developing and growing within normal range. We review the literature on this rare cause of cobalamin deficiency in infants. We highlight the factors determining the outcome and situations where raised index of suspicion could help in recognizing this preventable cause of developmental delay and learning difficulties.

Topics: Adult; Anemia, Pernicious; Early Diagnosis; Failure to Thrive; Female; Humans; Hydroxocobalamin; Infant; Male; Treatment Outcome; Vitamin B 12 Deficiency; Vitamin B Complex

We report the case of a 7 month-old girl that presented with acute anemia, generalized muscular hypotonia and failure to thrive. Laboratory evaluation revealed cobalamin deficiency, due to a vegan diet of the mother. The clinical triad of an acquired floppy baby syndrome with megaloblastic anemia and failure to thrive is pathognomic for infantile cobalamin deficiency. Neurological abnormalities are often irreversible and may be associated with delayed myelinization in the MRI. A normal cobalamin level in maternal serum and absence of anemia do not exclude subclinical deficiency. If cobalamin deficiency is suspected, e.g. in pregnant women on vegan diet, urinary methylmalonic acid excretion and plasma homocysteine levels should be determined and cobalamin substitution should be started at an early stage to avoid potentially irreversible damage of the fetus.

Topics: Anemia, Megaloblastic; Bone Marrow Examination; Diagnosis, Differential; Diet, Vegetarian; Failure to Thrive; Female; Follow-Up Studies; Humans; Hydroxocobalamin; Infant; Injections, Intravenous; Pregnancy; Pregnancy Complications; Time Factors; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency