Study of clinical manifestations and etiologies of megaloblastic anemia in children

Megaloblastic anemia (MA) is a rare pathology in childhood due, in the majority of cases, to a deficiency of folic acid and/or vitamin B12 (cobalamin). This study aims to determine the epidemiological, clinical, and paraclinical profiles of MA in children and to specify its etiologies, therapeutic modalities, and treatment responses.

This is a retrospective descriptive study of MA cases in children carried out in the General Pediatrics Department of the Hedi Chaker University Hospital of Sfax over a period of 42 years, from January 1979 to December 2021. We included all the patients under 16 years old with a myelogram showing megaloblastosis. The selected patients' demographic characteristics, physical signs, laboratory findings, and treatment responses were recorded.

Twenty cases of MA were collected, including 11 boys and 9 girls. The incidence of MA in children was 0.014%. The median age at diagnosis was 3.37 years. The clinical presentation was anemic syndrome with pallor and asthenia in all the cases. Neurological manifestations were noted in 2 cases and digestive disorders in 10 cases. Seven infants had psychomotor delays. On admission, all our patients had anemia with an average value of 5.6 g/dl. It was macrocytic in 19 cases. The blood count also revealed leukopenia (7 cases), thrombocytopenia (10 cases), and pancytopenia (5 cases). The myelogram showed megaloblastosis in all the cases and sideroblasts in one. A brain MRI was performed on five patients, and it showed abnormalities in three cases. The etiological investigations revealed a vitamin B12 deficiency secondary to a maternal Biermer's disease (6 cases), malnutrition (3 cases), Imerslund's disease (3 cases), congenital deficiency in transcobalamin II (3 cases), Biermer's disease (1 case), giardiasis (1 case), folic acid deficiency secondary to a poor dietary intake (1 case), mitochondrial cytopathy with vitamin B12-Folic acid deficiency (1 case), and Pearson syndrome (1 case). Our treatment included symptomatic measures, replacement therapy, and etiological treatment. Favorable evolution was noted in 11 cases. Five patients had neurological sequelae, and one patient died.

Our study highlights the rarity and heterogeneity of the etiological contexts of MA in children. Early diagnosis and therapeutic support can improve the long-term neurological prognosis.