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Título

AICARDI-GOUTIERES DISEASE WITH A NEW MUTATION: A CASE REPORT

Apresentação do caso único

Y.S.C.L., 5 years old, she was born at term to consanguineous parents (first cousins), with no history of
peripartum complications.
Until she was six months old, she had adequate neuropsychomotor development until she
began to show a regression in development associated with significant hypotonia and low
weight gain, and was referred to a specialized center for child neurology.
A child neurology assessment revealed movement disorders classified on examination as
cervical dystonia and dystonia in four limbs. The neurological examination also revealed
other motor alterations: spasticity associated with appendicular hypertonia and axial
hypotonia.
An investigation into inborn errors of metabolism was carried out, with a normal profile of
acylcarnitines and organic acids in the urine.
CT scans showed small foci of calcifications in the basal
nuclei bilaterally.
The patient was referred for an exome scan which showed a homozygous mutation (2
copies) of the ADAR gene (variant of uncertain significance).
He evolved with loss of head support, maintenance of motor deficits and dystonia, with a
significant degree of dysphagia and low weight gain.

Discussão

The patient's gene in question is ADAR - the
gene that encodes the enzyme responsible for the specific deamination of RNA
adenosines. This gene is associated with Aicardi-Goutières syndrome type 6, as well as a
correlation with phenotypic presentation with acute bilateral striatal necrosis and
symmetrical alterations in the caudate and putamen with edema evolving to later
retraction and the possibility of refractory dystonia. Reports in the literature relate this
gene to the spectrum of late-onset Aicardi-Goutièrez syndrome (around the first year of
life).
The most common neuroimaging findings are calcifications in the basal ganglia, seen
especially on CT scans. Magnetic resonance imaging scans can show white matter
alterations compatible with a leukodystrophic pattern, cerebral, cerebellar and brainstem
atrophies, striatal necrosis and even intracranial vasculopathies.

Comentários finais

It is worth pointing out that although the result of the patient reported in this paper is a
variant of uncertain significance, given the clinical correlation and imaging findings
compatible with the syndrome elucidated in this discussion, the diagnosis is clear and a
review of the exome findings is necessary in order to possibly reclassify the mutation in
question.

Referências

1 - Crow YJ. Aicardi-Goutières Syndrome. 2005 Jun 29 [Updated 2016 Nov 22]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

Palavras Chave

dystonia; aicardi syndrome; calcification