Resumen

MARTINEZ PEREZ, Lianet et al. Severe neurological disorders in an infant with megaloblastic anemia. Rev Cubana Hematol Inmunol Hemoter [online]. 2018, vol.34, n.1, pp. 75-82. ISSN 1561-2996.

Megaloblastic anemia is a madurative disorder of erythroid and myeloid precursors caused by deficiency of vitamin B₁₂ and/or folic acid. It is rare in childhood and its prevalence is unknown because it is a rare disease.We report the case of a 14 month old infant with a normal psychomotor development (DPM) until 7 months after which began to lose the gained skills and had severe neurological disorders to such a degree of being studied by neurology by a progressive central nervous system disease. At physical examination pale skin and mucous membranes, loss of bilateral cocleopalpebral reflexes, no visual reflection of the 4 limbs hypertonia, hyperreflexia were found. Laboratory tests were performed reporting hemoglobin of 76 g/L, genetic tests to search for inborn errors of metabolism,mitochondrial diseases and other diseases as Tay Sachs, Gangliosidosis type 1, metachromatic leukodystrophy, all were negative. The dosage of vitamin B₁₂ was 91 pg/mL, and megaloblastic anemia was diagnosed. At the beginning of the treatment with vitamin B₁₂ there was a rapid clinical recovery, the severe neurological disorders were completely reversing. Vitamin B₁₂ deficiency should be suspected in infants with anemia and neurological disorders especially if the mother´s feeding before and during pregnancy and lactation is not adequate.

Palabras clave : megaloblastic anemia; vitamin B₁₂ deficiency; neurological disorders.

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