Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report

Iron deficiency is a common cause of anemia (IDA) in infancy and can be associated with neurocognitive impairments. Iron-refractory IDA (IRIDA) has recently been described as an inherited cause of IDA due to loss-of-function mutations in the TMPRSS6 gene. IRIDA is characterized by a lack of response...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2016-07, Vol.138 (1), p.1-1
Main Authors: Arsenault, Valérie, Mailloux, Chantal, Bonnefoy, Arnaud, Lemyre, Emmanuelle, Pastore, Yves
Format: Article
Language:English
Subjects:
Anemia
Anemia, Iron-Deficiency - complications
Anemia, Iron-Deficiency - diagnosis
Anemia, Iron-Deficiency - physiopathology
Anemia, Iron-Deficiency - psychology
Child, Preschool
Cognition & reasoning
Cognition disorders
Cognitive disorders
Humans
Iron
Iron deficiency anemia
Male
Neurocognitive Disorders - diagnosis
Neurocognitive Disorders - etiology
Neuropsychological Tests
Pediatrics
Prognosis
Vitamin deficiency
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Summary:Iron deficiency is a common cause of anemia (IDA) in infancy and can be associated with neurocognitive impairments. Iron-refractory IDA (IRIDA) has recently been described as an inherited cause of IDA due to loss-of-function mutations in the TMPRSS6 gene. IRIDA is characterized by a lack of response to iron replacement. Here we report a new case of IRIDA with its biological parameters and its functional consequences, including neuropsychological impact. The latter was evaluated by the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition and subtests. We report a 5-year-old French Canadian boy who was incidentally diagnosed with a severe microcytic anemia at 2 years of age (hemoglobin 52 g/L, mean corpuscular volume 50 fL). Except mild pallor, he was asymptomatic of his anemia. Although he had a slight response to intravenous iron therapy, his hemoglobin remained A and maternally inherited c.1807G>C mutations were eventually identified. The patient had normal development and growth. Neuropsychological evaluation revealed excellent performance, with high Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition scores (ie, 82nd percentile for both global intelligence and general ability index). In conclusion, TMPRSS6 c.1807G>C in conjunction with c.1324G>A results in IRIDA. In contrast to the usual form of IDA, IRIDA may not be associated with neuropsychological deficits.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2015-3608