Aicardi-Goutières syndrome: clinical, laborchemical and neuroradiological findings in the first two years of life of an early diagnosed patient

Abstract

Introduction: Aicardi-Goutières syndrome (AGS) is a rare progressive encephalopathy. AGS is caused by homozygous mutations of at least 4 genes. The clinical syndrome is characterised by acquired microcephaly, bilateral basal ganglia calcifications, early loss of myelin, chronic cerebrospinal fluid (CSF) lymphocytosis and high interferon-alpha levels in plasma and in CSF. Case report: We report of a 5-month–old male patient who presented with irritability, feeding difficulties, psychomotor delay and trunk hypotonia. The patient showed a paroxysmal movement disorder characterized by crying spells with hypertonia and limb dystonia, occasionally triggered by acustic/tactile stimuli and lasting for several hours. Imaging revealed diffuse leucodystrophy without calcifications. Abnormal CSF findings included lactic acidosis, high protein content, lymphocytosis and extremely high neopterin and tetrahydrobiopterin combined with normal 5-methyltetrahydrofolate levels. The high titer of interferon-alpha in serum and CSF in the absence of any signs of infection pointed towards the diagnosis, which was established by the identification of pathogenic mutations in the AGS3/AYP1-gene (D39Y/D115fs).