Aicardi-Goutieres Syndrome-A Case Report

Abstract

Aicardi Goutieres Syndrome is an early-onset leukoencephalopathy with a presumed immune pathogenesis caused by inherited defects in nucleic acid metabolism. It is an inflammatory disorder resulting from mutation of multiple genes. Majority of the affected individuals experience physical as well as intellectual disability. Here we discuss a case of A 2-year old girl of consanguineous marriage diagnosed as Aicardi Goutieres Syndrome who was presented with the sudden loss of motor and cognitive skills after an acute febrile illness. This syndrome was diagnosed by clinical exome sequencing and RNAEH 2A mutant gene identification. J Bangladesh Coll Phys Surg 2022; 40: 132-135

Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS)

“…CANDLE, SAVI, and AGS are monogenic disorders caused by pathogenic genetic defects [ 1 , 2 ]. Autosomal recessive loss-of-function (LOF) mutations in the proteasome subunit beta type 8 ( PSMB8 ) cause Nakajo-Nishimura syndrome (NNS) with nodular erythema, elongated and thickened fingers, and emaciation [ 1 , 3 , 4 ], and CANDLE [ 1 , 4 , 5 ].…”

“…Although AGS is a monogenic disorder, it is genetically heterogenous and caused by mutations in seven genes encoding nucleic-acid-processing enzymes and cytosolic nucleic acid sensor. AGS is characterized by unexplained fevers, hepatosplenomegaly, encephalopathy and white matter disease, “chilblains” or cold-induced acral dermatosis, systemic and pulmonary hypertension, and early-onset, monophasic, congenital infection-like syndrome [ 1 , 2 , 9 , 10 ]. Moreover, the cerebrospinal fluid shows chronic lymphocytosis and increased IFN-α levels [ 10 ].…”