ABSTRACT
El Síndrome de Aicardi-Goutieres (SAG) se caracteriza por una encefalopatía genética, progresiva, de inicio temprano, que se asocia a un proceso inflamatorio. Además del SNC, puede afectar a la piel, con erupciones tipo sabañones, y presentar microcefalia, talla baja, disfunción hepática, disfunción tiroidea, reactantes de fase aguda elevados, anticuerpos autoinmunes positivos y asociaciones para enfermedades sistémicas autoinmunes como él LES. El SAG presenta locus heterogénicos, con mutaciones identificadas en los genes que codifican el exonucleasa TREX1 3´â5´ y las tres subunidades del complejo de endonucleasa RNASEH2. Se presenta el caso de una paciente de 2 años de edad, con retraso del desarrollo psicomotor, sin otras manifestaciones sistémicas, diagnosticada como SAG, con variante c.529G(A (p.Ala177Thr) con efecto patogénico en homocigosis en el gen RNASEH2B.
Aicardi-Goutieres Syndrome (AGS) is characterized by an early-onset, progressive, genetic encephalopathy associated with an inflammatory process. In addition to the CNS, it can affect the skin, with chilblain-like eruptions, and present with microcephaly, short stature, liver dysfunction, thyroid dysfunction, elevated acute phase reactants, positive autoimmune antibodies, and associations for autoimmune systemic diseases such as SLE. SAG presents heterogeneous loci, with mutations identified in the genes encoding the TREX1 3'â5' exonuclease and the three subunits of the RNASEH2 endonuclease complex. We present the case of a female 2-year-old patient, with delayed psychomotor development, without other systemic manifestations, diagnosed as SAG, with variant c.529G>A (p.Ala177Thr) with a pathogenic effect in homozygosis in the RNASEH2B gene.
ABSTRACT
The clinical, imaging, genetic, therapeutic and prognostic features of a case of pediatric stroke who was finally diagnosed with Aicardi-Goutières syndrome (AGS) in Xi′an International Medical Center Hospital on October 24, 2021 were reported. A 10-year-old boy was admitted to the hospital due to weakness of the right limb for more than 10 hours. The pre-hospital CT showed multiple patchy calcifications in the bilateral frontal lobe and the right parietal lobe cortex-medullary junction. The physical examination on admission had chilblains on the hands, feet and face. National Institutes of Health Stroke Scale Score was 4 points. Brain magnetic resonance imaging showed acute brainstem infarction, no abnormality in magnetic resonance angiography, ultrasound and electrocardiogram of heart and neck vessels were normal, cerebrospinal fluid biochemistry and routine examination were normal, blood routine, biochemistry, coagulation, autoantibody series, thyroid function, tumor markers, human immunodeficiency virus and syphilis examinations were normal. After oral administration of aspirin anti-platelet aggregation and rehabilitation exercises, the muscle strength returned to normal and the patient was discharged. One month later, the result of genetic testing was reported as AGS caused by TREX1 gene mutation, and the mutation site is c.58G>A. AGS is a rare autoimmune hereditary encephalopathy with a large heterogeneity of clinical manifestations. When a hereditary disease was suspected, genetic testing should be done.
ABSTRACT
Objective To explore the clinical characteristics, imaging and genetic features of Type 4 Aicardi-Goutières syndrome (AGS). Methods The clinical data were collected, genetic changes were tested using next generation sequencing, and relevant literatures were reviewed. Results A 5 months old girl present with recurrent fever, intelligence and motor developmental delay, epilepsy, microcephaly, spasticity, cerebrospinal fluid pleocytosis. Brain MRI displayed cerebral atrophy and white matter lesions. Brain CT displayed intra-cranial multiple calcifications. Two missense mutations were identified in RNASEH2A,c.199G>C was a novel mutation,and c.322C>T was a known pathogenic mutation.Conclusions RNASEH2A gene mutations can lead to type 4 AGS.