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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Case of the Week

Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada

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December 24, 2015
  • Description
  • Legends
  • Diagnosis
  • Brain Teaser
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Aicardi-Goutières Syndrome

  • Background:
    • Aicardi-Goutières syndrome (AGS) is an inherited encephalopathy characterized by acquired microcephaly, basal-ganglia calcification, leukodystrophy, cerebral atrophy, and CSF with chronic lymphocytosis and raised interferon-alpha. Mutations in ADAR, SAMHD1, IFIH1, TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes have been reported.
  • Clinical Presentation:
    • AGS usually manifests with severe intellectual and motor delay. Patients present with extreme irritability, intermittent fever, loss of skills, slowing of head growth, spasticity, and dystonia.
  • Key Diagnostic Features:
    • Diagnosis is made by characteristic neuroimaging findings — basal ganglia and subcortical calcifications on CT abnormal white matter signal on MRI — associated with mild CSF lymphocytosis.
    • The neuroradiologic presentation usually remains substantially stable with time.
    • Molecular analysis is necessary to confirm the type of AGS (in the present case, a p. Ala177Thr homozygous mutation in RNASEH2B gene).
  • Differential Diagnosis:
    • The main differential diagnoses are congenital TORCH infections (toxoplasmosis, rubella, CMV, herpes virus [HSV1 and HSV2]). The predominant localization of the calcifications in the basal ganglia, the negative TORCH investigations, and lack of retinopathy helps to make the differential diagnosis
    • Congenital HIV encephalopathy, Cockayne syndrome, diffuse cerebral microangiopathy, carbonic anhydrase II deficiency, autosomal dominant basal ganglia calcification, and hyperparathyroidism should also be considered.
  • Treatment:
    • There is no available treatment at the moment

Suggested Reading

  1. Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Annals Neurol 1984;15:49–54, 10.1002/ana.410150109
  2. Manyam BV. What is and what is not ‘Fahr's disease’. Parkinsonism Relat Disord 2005;11:73–80, 10.1016/j.parkreldis.2004.12.001
  3. Uggetti C, La Piana R, Orcesi S, et al. Aicardi-Goutières syndrome: neuroradiologic findings and follow-up. AJNR Am J Neuroradiol 2009;30:1971–76

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American Journal of Neuroradiology: 46 (5)
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