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Regression of white matter hypodensities with age in Aicardi–Goutierés syndrome: a case report

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Abstract

Background

Aicardi–Goutierés syndrome (AGS) is a severe and progressive familial encephalopathy that is characterized by acquired microcephaly, intracranial calcification, white matter lesions, and chronic lymphocytosis with elevated levels of interferon-α in the cerebrospinal fluid. Although the degree of calcification and the severity of brain atrophy are variable, typically, the brain lesions appear to progress on successive examinations.

Case report

We report a 7-year-old male patient who showed relative regression of white matter lesions with nonprogression of basal ganglia calcification and atrophy on follow-up magnetic resonance imaging and computed tomography scans.

Results

Magnetic resonance spectroscopy findings were normal. This, to our knowledge, is the first case report, which describes relative regression of the white matter changes in AGS.

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References

  1. Aicardi J, Goutierés F (1984) A progressive familial encephalopathy in infancy, with calcification of the basal ganglia, and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49–54

    Article  PubMed  CAS  Google Scholar 

  2. Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB (1995) The Aicardi–Goutierés syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J Med Genet 32(11):881–844

    Google Scholar 

  3. Polizi A, Pavone P, Parano E, Incorpora G, Ruggieri M (2001) Lack of progression of brain atrophy in Aicardi–Goutierés syndrome. Pediatr Neurol 24(4):300–302

    Article  Google Scholar 

  4. Goutierés F, Aicardi J, Barth PG, Lebon P (1998) Aicardi–Goutierés syndrome: an update and results of interferon-alpha studies. Ann Neurol 44(6):900–907 (Dec)

    Article  PubMed  Google Scholar 

  5. Blau N, Bonafe L, Krageloh-Mann I, Thony B, Kierat L, Hausler M, Ramaekers V (2003) Cerebrospinal fluid pterins and folates in Aicardi–Goutieres syndrome: a new phenotype. Neurology 61(5):642–647 (Sep 9)

    PubMed  CAS  Google Scholar 

  6. Schwarz KB, Ferrie CD, Woods CG (2002) Two siblings with a new Aicardi–Goutieres-like syndrome. Dev Med Child Neurol 44(6):422–425 (Jun)

    Article  PubMed  CAS  Google Scholar 

  7. Kato M, Ishii R, Honma A, Ikeda H, Hayasaka K (1998) Brainstem lesion in Aicardi–Goutierés syndrome. Pediatr Neurol 19(2):145–147

    Article  PubMed  CAS  Google Scholar 

  8. Harrington MG, MacPherson P, McIntosh WB et al (1981) The significance of the incidental finding of basal ganglia calcification on computed tomography. J Neurol Neurosurg Psychiatry 44:1168–1170

    PubMed  CAS  Google Scholar 

  9. Ostergaard JR, Christensen T, Nehen AM (1999) A distinct difference in clinical expression of two siblings with Aicardi–Goutierés syndrome. Neuropediatrics 30(1):38–41

    Article  PubMed  CAS  Google Scholar 

  10. Verrips A, Hiel JA, Gabreels FJ, Wesseling P, Rotteveel JJ (1997) The Aircardi–Goutierés syndrome: variable clinical expression in two siblings. Pediatr Neurol 16(4):323–325

    Article  PubMed  CAS  Google Scholar 

  11. McEntagart M, Kamel H, Lebon P, King MD (1998) Aicardi–Goutierés syndrome: an expanding phenotype. Neuropediatrics 29(3):163–167

    PubMed  CAS  Google Scholar 

  12. Barth PG, Walter A, van Gelderen I (1999) Aicardi–Goutierés syndrome: a genetic microangiopathy? Acta Neuropathol (Berl) 98(2):212–216

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Division of Pediatric Neurology, Department of Pediatrics, Dr. Balabhai Nanavati Hospital & Research Center, Mumbai, 400 056, India

    Sanjeev V. Kothare & Sameeer Gadani

  2. Division of Neuro-radiology, Department of Radiology, Dr. Balabhai Nanavati Hospital & Research Center, Mumbai, 400 056, India

    Sona A. Pungavkar, Deepak P. Patkar, Nisha I. Sainani & Martand H. Naik

Authors
  1. Sanjeev V. Kothare
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  2. Sona A. Pungavkar
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  3. Deepak P. Patkar
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  4. Nisha I. Sainani
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  5. Martand H. Naik
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  6. Sameeer Gadani
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Corresponding author

Correspondence to Sona A. Pungavkar.

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Kothare, S.V., Pungavkar, S.A., Patkar, D.P. et al. Regression of white matter hypodensities with age in Aicardi–Goutierés syndrome: a case report. Childs Nerv Syst 22, 1503–1506 (2006). https://doi.org/10.1007/s00381-006-0112-9

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  • DOI: https://doi.org/10.1007/s00381-006-0112-9

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