RESUMO
Partial monosomy 10p is a rare chromosomal disorder characterised by frontal bossing, micrognathia, congenital heart defects, vesicoureteral abnormalities, and developmental delay. This is the first report to describe seizures not associated with hypocalcaemia, as well as cortical atrophy and decreased white matter volume on magnetic resonance imaging, in a patient with documented partial monosomy 10p. The neuroradiographic abnormalities found in this patient provide a first step towards understanding the aetiology of the developmental delay and ventriculomegaly associated with this chromosomal abnormality.
Assuntos
Encéfalo/patologia , Aberrações Cromossômicas/fisiopatologia , Deleção Cromossômica , Cromossomos Humanos Par 10/fisiologia , Convulsões/fisiopatologia , Atrofia , Transtornos Cromossômicos , Deficiências do Desenvolvimento/genética , Feminino , Lobo Frontal/patologia , Humanos , Hipocalcemia/fisiopatologia , Recém-Nascido , Recém-Nascido Prematuro , Cariotipagem , Imageamento por Ressonância Magnética , Gravidez , Complicações na Gravidez , Convulsões/genética , Convulsões/terapia , Tomografia por Raios X , Infecções Urinárias/fisiopatologia , Infecções Urinárias/terapiaRESUMO
We describe a child with transient erythroblastopenia of childhood and breath-holding spells. The spells resolved after oral iron supplementation but before the anemia resolved. The physiologic role of iron in autonomic nervous system regulation and its potential role in the treatment of breath-holding spells are discussed.
