Encephalopathy of Infancy with Intracerebral Calcification and Chronic Spinal Fluid Lymphocytosis - Another Case of the Aicardi-Goutières Syndrome

Abstract

Another case of the Aicardi-Goutières syndrome is presented. The female child was diagnosed at 4 months of age, when irritability, lack of fixation and dystonic movements were noted. Also, extensive intracerebral calcification was found on computed tomography. Nuclear magnetic resonance imaging confirmed extensive white matter disease. Repeated examination of the spinal fluid revealed chronic spinal fluid lymphocytosis. This condition belongs to the encephalopathies of infancy with intracranial calcification of genetic aetiology and unknown pathogenesis. Differentiation against other presumed entities in this group, as well as the wider differential diagnosis, are discussed.

Key words

Encephalopathy of infancy - Microcephaly - Intracranial calcification - Chronic spinal fluid lymphocytosis - White matter disease - Magnetic resonance imaging - Autosomal recessive inheritance