Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1995 Nov;32(11):881–884. doi: 10.1136/jmg.32.11.881

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

J L Tolmie 1, P Shillito 1, R Hughes-Benzie 1, J B Stephenson 1
PMCID: PMC1051740  PMID: 8592332

Abstract

Aicardi-Goutières syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest, intracerebral calcification, and white matter disease in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised level of cerebrospinal fluid interferon-alpha (IFN-alpha). Diagnosis requires the presence of progressive encephalopathy with onset shortly after birth, and characteristic clinical neurological and neuroimaging signs together with chronic CSF lymphocytosis. The syndrome has superficial resemblance to the neurological sequelae of congenital infection, thus a rigorous search for microbiological and serological evidence of embryopathic infections should be carried out in each case.

Full text

PDF
881

Images in this article

881Image
on p.881
882Image
on p.882
882Image
on p.882

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aicardi J., Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984 Jan;15(1):49–54. doi: 10.1002/ana.410150109. [DOI] [PubMed] [Google Scholar]
  2. Babbitt D. P., Tang T., Dobbs J., Berk R. Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children. Am J Roentgenol Radium Ther Nucl Med. 1969 Feb;105(2):352–358. doi: 10.2214/ajr.105.2.352. [DOI] [PubMed] [Google Scholar]
  3. Billard C., Dulac O., Bouloche J., Echenne B., Lebon P., Motte J., Robain O., Santini J. J. Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases. Neuropediatrics. 1989 Feb;20(1):12–19. doi: 10.1055/s-2008-1071258. [DOI] [PubMed] [Google Scholar]
  4. Black D. N., Watters G. V., Andermann E., Dumont C., Kabay M. E., Kaplan P., Meagher-Villemure K., Michaud J., O'Gorman G., Reece E. Encephalitis among Cree children in northern Quebec. Ann Neurol. 1988 Oct;24(4):483–489. doi: 10.1002/ana.410240402. [DOI] [PubMed] [Google Scholar]
  5. Black D. N., Watters G. V., Andermann E., Dumont C., Kabay M. E., Kaplan P., Meagher-Villemure K., Michaud J., O'Gorman G., Reece E. Encephalitis among Cree children in northern Quebec. Ann Neurol. 1988 Oct;24(4):483–489. doi: 10.1002/ana.410240402. [DOI] [PubMed] [Google Scholar]
  6. Boltshauser E., Steinlin M., Boesch C., Martin E., Schubiger G. Magnetic resonance imaging in infantile encephalopathy with cerebral calcification and leukodystrophy. Neuropediatrics. 1991 Feb;22(1):33–35. doi: 10.1055/s-2008-1071412. [DOI] [PubMed] [Google Scholar]
  7. Burn J., Wickramasinghe H. T., Harding B., Baraitser M. A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet. 1986 Aug;30(2):112–116. doi: 10.1111/j.1399-0004.1986.tb00578.x. [DOI] [PubMed] [Google Scholar]
  8. Bönnemann C. G., Meinecke P. Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis--another case of the Aicardi-Goutières syndrome. Neuropediatrics. 1992 Jun;23(3):157–161. doi: 10.1055/s-2008-1071333. [DOI] [PubMed] [Google Scholar]
  9. Bönnemann C. G., Meinecke P., Reich H. Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity. J Med Genet. 1991 Oct;28(10):708–711. doi: 10.1136/jmg.28.10.708. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Chitayat D., Silver K., Azouz E. M. Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis. Am J Med Genet. 1992 Jun 1;43(3):517–523. doi: 10.1002/ajmg.1320430304. [DOI] [PubMed] [Google Scholar]
  11. Diament A. J., Machado L. R., Cypel S., Ramos J. L. Síndrome de calcificaçes dos gânglios da base, leucodistrofia e pleocitose linfomonocitária crônica do líquido cefalorraqueano: registro de um caso. Arq Neuropsiquiatr. 1986 Jun;44(2):185–190. doi: 10.1590/s0004-282x1986000200011. [DOI] [PubMed] [Google Scholar]
  12. HALLERVORDEN I. Uber diffuse symmetrische Kalkablagerungen bei einem Krankheitsbild mit Mikrocephalie und Meningoencephalitis. Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1950;184(7):579–600. doi: 10.1007/BF00344938. [DOI] [PubMed] [Google Scholar]
  13. Ishitsu T., Chikazawa S., Matsuda I. Two siblings with microcephaly associated with calcification of cerebral white matter. Jinrui Idengaku Zasshi. 1985 Sep;30(3):213–217. doi: 10.1007/BF01876471. [DOI] [PubMed] [Google Scholar]
  14. JERVIS G. A. Microcephaly with extensive calcium deposits and demyelination. J Neuropathol Exp Neurol. 1954 Apr;13(2):318–329. doi: 10.1097/00005072-195404000-00002. [DOI] [PubMed] [Google Scholar]
  15. Lebon P., Badoual J., Ponsot G., Goutières F., Hémeury-Cukier F., Aicardi J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci. 1988 Apr;84(2-3):201–208. doi: 10.1016/0022-510x(88)90125-6. [DOI] [PubMed] [Google Scholar]
  16. Lyon G., Robain O., Philippart M., Sarliève L. Leucodystrophie avec calcifications strio-cérébelleuses, microcéphalie et nanisme. Rev Neurol (Paris) 1968 Aug;119(2):197–210. [PubMed] [Google Scholar]
  17. Mehta L., Trounce J. Q., Moore J. R., Young I. D. Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. J Med Genet. 1986 Apr;23(2):157–160. doi: 10.1136/jmg.23.2.157. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Patton M. A., Giannelli F., Francis A. J., Baraitser M., Harding B., Williams A. J. Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. J Med Genet. 1989 Mar;26(3):154–159. doi: 10.1136/jmg.26.3.154. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Pfeffer L. M., Constantinescu S. N., Wang C. Transmembrane signaling by IFN-alpha. Prog Mol Subcell Biol. 1994;14:242–259. doi: 10.1007/978-3-642-78549-8_14. [DOI] [PubMed] [Google Scholar]
  20. Razavi-Encha F., Larroche J. C., Gaillard D. Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Neuropediatrics. 1988 May;19(2):72–79. doi: 10.1055/s-2008-1052405. [DOI] [PubMed] [Google Scholar]
  21. Reardon W., Hockey A., Silberstein P., Kendall B., Farag T. I., Swash M., Stevenson R., Baraitser M. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet. 1994 Aug 1;52(1):58–65. doi: 10.1002/ajmg.1320520112. [DOI] [PubMed] [Google Scholar]
  22. Troost D., van Rossum A., Veiga Pires J., Willemse J. Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologic and neuropathological studies--a separate neurodevelopmental entity. Neuropediatrics. 1984 May;15(2):102–109. doi: 10.1055/s-2008-1052350. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES