ICNC Abstracts, ICNC 2018

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Aicardi-Goutières Syndrome - expanding the phenotypic spectrum.
Ami Shah, Snehal Mallakmir, Rashid Merchant, Mitusha Verma

Last modified: 2018-09-09


Aicardi- Goutières syndrome (AGS) is an early onset encephalopathy with variable manifestations involving other systems. So far seven causative genes with autosomal recessive and dominant inheritance are recognised.

We report two boys with AGS, born of consanguineous marriage with different genotypes. Both presented in infancy with encephalopathy and leukodystrophy, intracranial calcifications and corpus callosum atrophy on neuroradiology. Negative TORCH titres in both and ZIKA virus PCR in second child ruled out intrauterine infections (IUI). Child with homozygous RNASEH2C mutation, a proposed founder mutation in Asian population, presented at 2.5 months with seizures, spasticity and nystagmus. CSF studies revealed leucocytosis with raised interferon alpha and neopterin as reported in literature. He didn't show skin manifestation or other systemic abnormality. At 5 years he had a non-progressive course. Second child showed a homozygous TREX1 variation. Consistent with earlier reports of this mutation, he had early onset in first month with irritability, severe developmental delay, hepatomegaly and sterile pyrexia, but didn’t have seizures, thrombocytopenia and thyroid abnormalities. He developed skin lesions resembling lupus, histologically diagnosed as mastocytosis.

The case descriptions help to expand the spectrum of phenotypic genotypic correlation and highlight overlapping presentations. Further follow up is necessary to see their evolution. Recent reports have suggested a Lupus erythematosus phenotype in AGS due to systemic autoimmunity resulting from activation of the innate immune system. Thus it should be considered as a differential not only in intracranial calcifications, IUI and early encephalopathy but also in infants with lupus like symptoms.



Encephalopathy; Aicardi-Goutieres Syndrome; Lupus erythematosus

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