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Type presentatieE-poster
TitelA rare cause of acute diplopia in children
DoelTo inform and raise awareness among ophthalmologists about a rare cause of acute diplopia in children.
MethodesWe describe two pediatric patients who presented with double vision due to an unilateral adduction deficit and in which the diagnosis of deficiency of human adenosine deaminase 2 (DADA2) was made. We briefly describe this disease and we suggest a flow-chart to differentiate in children with a sudden eye movement abnormality.
ResultatenADA2 deficiency is a rare congenital disorder caused by biallelic deleterious mutations in the gene encoding ADA2. Patients present with a multitude of clinical symptoms (vasculopathy ranging from skin to central nervous system manifestations, ischemic or hemorrhagic stroke, immunodeficiency with hypogammaglobulinaemia, and cytopenia [a low number of memory B cells]). We present 2 children who had a similar presentation with an adduction deficit of one eye. In both patients, MRI confirmed the suspected stroke in the midbrain at the level of the oculomotor nucleus. In highly suspicious cases, genetic analysis should be promptly performed to exclude DADA2 as a possible underlying cause.
ConclusieIf a child is presenting with a sudden eye movement abnormality, we must be aware of the possibility of an ischemic insult due to an underlying genetic disorder such as DADA2, knowing that a delay in diagnosis is disadvantageous for the prognosis. Due to its widely variable presentation, the correct diagnosis is not always easily made. We suggest a flow chart to use in clinical practice when a child presents with sudden ocular motility abnormalities.
BelangenverstrengelingNee
Auteur 1
NaamVERYSER
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Auteur 2
NaamMEYTS
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Auteur 3
NaamCASTEELS
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Auteur 4
NaamDEMAEREL
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Auteur 5
NaamDESOMER
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Auteur 6
NaamCASSIMAN
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