Francoise Goutières
Françoise Goutières French pediatric neurologist.
- 1968 – MD. Thesis: Contribution à l’étude des épilepsies myoclonies progressives
- Neuropediatric Unit, Hôpital des Enfants Malades, Paris, France
- Hôpital Saint Vincent de Paul, Service du Professeur Thieffry
Medical Eponyms
Aicardi-Goutières syndrome (1984)
Aicardi-Goutières syndrome is a form of Leukodystrophy (AGS). It is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-alpha in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular process in relation to elevated interferon-alpha. A genetic defect in the regulation of its synthesis may be the causal factor of the disorder.
First described in 1984 by Goutières and Jean Aicardi (1926-2015) who reported on eight infants from five families suffering from an early onset familial encephalopathy with chronic CSF lymphocytosis and basal ganglia calcifications, mimicking an intrauterine infectious process but with negative TORCH investigations
Major Publications
- Goutières F. Contribution à l’étude des épilepsies myoclonies progressives : à propos de 3 observations personnelles dont 2 anatomo-cliniques. Thèse. Méd. Paris. 1968. N° 522
- Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15(1):49-54 [Aicardi-Goutières syndrome]
- Arzimanoglou A, Goutières F. Trends in Child Neurology. A Festschrift for Jean Aicardi. 1996
- Aicardi J, Goutières F. Systemic lupus erythematosus or Aicardi-Goutières syndrome?. Neuropediatrics. 2000;31(3):113.
- Goutières F. Aicardi-Goutières syndrome. Brain Dev. 2005;27(3):201-206. [Aicardi-Goutières syndrome]
- Rice G, Patrick T, Parmar R, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007;81(4):713-725
References
Biography
- Bibliography. Goutières, Franco̧ise. WorldCat Identities
Eponym
- Crow YJ, Livingston JH. Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection. Dev Med Child Neurol. 2008;50(6):410-416
- Aicardi-Goutières syndrome 1 (AGS 1). OMIM
Graduated from Cardiff Medical School in 2017 with MBBCh and BSc in Psychology and Medicine. Currently working as a doctor in the emergency department at Sir Charles Gairdner Hospital in Perth, Australia.
BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Associate Professor Curtin Medical School, Curtin University. Emergency physician, Sir Charles Gairdner Hospital. Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |