PROFESSOR JEAN AICARDI (1926-2015)

by Prof. John BP Stephenson

Internationally renowned French Child Neurologist who wrote his textbooks in English

PROFESSOR JEAN AICARD (1926-2015)

Jean Aicardi was arguably the greatest child neurologist of the modern era. His name will live on in the two separate conditions that he described, Aicardi syndrome and Aicardi-Goutières syndrome. His name will also live on through his several textbooks, all written in English, and through his friends, colleagues and pupils (over 100 fellows trained with him) throughout the world. Most of his work was done in Paris, but in later years he also held posts in Miami, Florida, USA (as Visiting Scientist), at the Institute of Child Health (as Honorary Professor of Child Neurology), and in Great Ormond Street Hospital (Honorary Consultant Neurologist), London, UK. Isabelle Rapin, in her report, “The International Child Neurology Association: the first 25 years” (http://icnapedia.org/explore/articles/the-icna/entry/2007/07/08/icna-first-25-years-isabelle-rapin) wrote that Jean Aicardi was “one of the most peripatetic child neurologists the world has yet seen, thanks in part to his prowess in multiple languages and to the fact that his retirement from the Hôpital des Enfants-Malades in Paris gave him the freedom to serve as Visiting Professor in London, Miami, Sydney and elsewhere and to visit all the continents one or more times during his presidency (of ICNA).”

Jean François Marie Aicardi was born on 8th November 1926 in Rambouillet 50 km from Paris, the 7th of 9 children. He writes1 that at school at the Lycée Hoche in Versailles he was “an average student with no burning interest in any particular subject, notably not maths”. However, a vague attraction to biology led him to think of medicine as a career. Despite many difficulties he seems to have become more and more excited by his medical education and finally earned the MD from the University of Paris for a thesis on convulsive disorders in the first year of life.

He was inspired to do neurology by Professor Raymond Garcin and to do child neurology by Professor Stéphane Thieffry. After his MD he spent an inspirational year as research fellow at Harvard Medical School and the Children’s Hospital Medical Center in Boston. Not only did he get to know people like Cesare Lombroso, but most importantly, he assimilated North American research methods and their rigour. Thereafter he re-joined Thieffry in Paris in what was to be the first child neurology unit in France, and a unit of great productivity over many years, both at Hôpital des Enfants Malades and Hôpital Saint-Vincent DePaul. However, it was only when Aicardi joined INSERM (Institut National de la Santé et de la Recgerche Médicale - National Institute of Health and Medical Research) that his career was assured and he was able to write and to collaborate internationally. At INSERM he was Mâitre de Recherche 1969-1991 and Directeur de Recherche 1986-1991.

Aicardi’s best known papers described his two new syndromes. Aicardi syndrome2,3 consists of infantile spasms, eye defects – mainly chorioretinal lacunae, white “holes” - and agenesis of the corpus callosum and is almost entirely confined to girls (except in Kleinfelters). Aicardi-Goutières syndrome (AGS) – described with Françoise Goutières4, with whom he wrote over 60 papers between 1966 and 2007 – is best known as an infantile encephalopathy, but has proved to be of extraordinary interest on a wider scale. The 7 genes5 (so far) for AGS are involved in pathways that converge on type 1 interferon, a protein involved in innate immunity. Thus it comes about that AGS resembles both congenital viral infections (including HIV) and also auto-immune disorders in particular systemic lupus erythematosus.

Rett syndrome was another condition confined to females to which Aicardi made a major contribution6. Actually, Rett syndrome was re-discovered in many countries in the early 1980s, but it was Bengt Hagberg, Jean Aicardi  and Karin Dias who really put it on the map6. Then, everyone flocked to Baltimore for the 1985 Rett workshop,  and the rest is history.

Aicardi’s textbooks have been hugely popular and both Diseases of the nervous system in childhood  and Epilepsy in children have run to three editions, as yet. He was also the founding editor and editor-in-chief of the journal Epileptic disorders that includes videos of patients to accompany the written word.

His academic honours were numerous, but one should note especially Aicardi’s receipt of the Hower Award of the Child Neurology Society in 1986; of this he said “I would first like to thank the Child Neurology Society for the honor that it has bestowed on me. I am aware of the prestige which is attached to the Hower Award and I deeply value this distinction, especially as I realize that it is the first time the Award has been given to a non-American child neurologist. In addition to honouring me, the Child Neurology Society wanted to demonstrate that neuro-pediatrics has no geographic, political or linguistic borders and that the care of neurologically disabled children requires the efforts of all men and women of good will across lands and oceans.”7

Aicardi was a man without hubris. As an eminent child neurologist from the USA wrote recently “I was so impressed by how someone of his stature and accomplishment seemed so modest. I have come to believe, largely from this encounter, that truly accomplished people have no real need to tout themselves: a valuable life lesson for all of us.”

Jean married Jeanne early in his career and they lived in a flat in Boulevard Beaumarchais, a flat that she made particularly beautiful. Sadly, Jeanne pre-deceased him.

Professor Jean Aicardi MD (Paris), FRCP (London), HonFRCPCH (UK), child neurologist and epileptologist, was born on 8th November 1926. He died on 3rd August 2015, aged 88.

  1. Aicardi J. Jean Aicardi: my circuitous path to becoming a French child neurologist and Epileptologist. J Child Neurol 2012; 28(3): 409-415.
  2. Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroenceph Clin Neurophysiol 1965; 19:609-610 (Abstract)
  3. Aicardi J, Chevrie JJ, Rousselie F. [Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities]. Arch Fr Pediatr 1969;26(10):1103-20.
  4. AIcardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 984;15(1):49-54.
  5. Crow YJ et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A2015; 167A(2): 296-312.
  6. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases. Ann Neurol 1983; 14(4): 471-479.
  7. Aicardi J. The future of child neurology. J Child Neurol 1987; 2(2): 152-159.
Jean Aicardi – 3rd from the left in the front row – at the 1985 Baltimore workshop on Rett syndrome.

Jean Aicardi – 3rd from the left in the front row – at the 1985 Baltimore workshop on Rett syndrome.