RESUMO
Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized by array-CGH. This is the smallest 2q24.2q24.3 region of overlap described in the literature encompassing only 9 genes (SLC4A10, DPP4, GCG, FAP, IFIH1, GCA, KCNH7, FIGN, GRB14). We focused our attention on SLC4A10, DPP4, and KCNH7, genes associated with neurological features. Our patients presented similar features: intellectual disability, developmental and language delay, hypotonia, joint laxity, and dysmorphic features. Only patient 2 showed profound deafness and also carried a heterozygous mutation of the GJB2 gene responsible for autosomal recessive deafness 1A (DFNB1A: OMIM 220290). Could the disruption of a gene present in the 2q24.2q24.3 deleted region be responsible for her profound hearing loss?
Assuntos
Surdez , Deficiência Intelectual , Deleção Cromossômica , Surdez/genética , Dipeptidil Peptidase 4/genética , Feminino , Humanos , Deficiência Intelectual/genética , Helicase IFIH1 Induzida por Interferon/genética , Hipotonia Muscular/genéticaRESUMO
A 54-year-old woman presented with fever, spasmodic torticollis, ptosis, and chemosis in her left eye. CT venous angiography revealed cavernous sinus thrombosis (CST) and left internal jugular vein thrombosis (IJVT) (figure, A), cervical MRI detected a retropharyngeal abscess and epidural empyema (figure, B and C), and chest X-ray showed multiple pulmonary opacities (figure, D). The clinical/radiologic picture, due to anaerobic septicemia, was consistent with Lemierre syndrome (LS), the so-called "forgotten disease."(1) Extensive neuroimaging studies are mandatory to detect an abscess in the neck of patients with CST and IJVT for early diagnosis and treatment. LS is still relevant today.