There was actually no child neurology in postwar France.  It was not until 1952 that the first French unit of child neurology opened in the Hôpital des Enfants Malades.  It evolved from a special unit designed for the care of children with poliomyelitis into a full neurological service under the direction of Stéphane Thieffry, who was the first pediatrician in France to dedicate himself entirely to child neurology. Thieffry’s unit attracted neuropathologists, electroencephalographers, and some young French pediatricians of worth who were interested in neuropediatrics, among whom the most outstanding were Gilles Lyon and Jean Aicardi.

In the early 1950s, Aicardi was preparing his thesis on convulsive disorders in the first year of life and was impressed and fascinated by the works of Henri Gastaut.  He first met Gastaut, as well as Joseph Roger, in 1960 in Marseilles on the occasion of a symposium on infantile spasms.  Their ideas, as well as those of Collette Dreyfus-Brisac, a pionneer in the field of electroencephalography in childhood, and Jean Bancaud, who, together with Jean Talairach and their coworkers, developed stereoelectroencephalography and stereotactic neurosurgery of epilepsy, were to play a significant part in the development of Aicardi's thinking in the field of epileptology.

A deciding event of Aicardi’s life was his visit to Harvard Medical School and the Children's Hospital Medical Center in Boston as a research fellow in 1955-56.  Not only did he have the opportunity to increase his knowledge of child neurology and meet personalities such as Charles Janeway, William Lennox, and Cesare Lombroso, but, above all, he discovered the dynamic and rigorous style of American research, a process that he adopted for his own.

Returning to Paris, Aicardi became the pediatrician of the Department of Infantile Surgery at the Hôpital des Enfants Malades, where he remained until 1964 while continuing his interest in child neurology.  He then worked as an assistant to Thieffry from 1964 to 1979 in the Department of Child Neurology at the Hôpital Saint Vincent de Paul.  In 1968 he joined the Institut National de la Santé et de la Recherche Médicale (INSERM) and still belongs to this organisation as a research director.  He returned with his team to the Hôpital des Enfants Malades in 1979 to create and run a new unit of child neurology, of which he is still in charge.

In 1970 Aicardi was invited to Oxford, England, by the late Ronald MacKeith in order to participate in the first meeting of the European Study Group in Child Neurology, an exclusive group of The Spastics Society, an organisation that has played an important role in the development of child neurology in Europe.  This group became the European Federation of Child Neurology Societies in 1973 and has branches in most European countries.

  Aicardi has been actively involved in the development of the French-speaking branch of the European Federation, of which he has served as general secretary.  This branch includes Belgium, France, Italy, Luxembourg, North Africa, Portugal, and Spain.  He is currently its president, and is also a member of the Council of the International Child Neurology Association, as well as a member of many scientific societies in Europe, America, and Australia.  He was awarded the Cornelia de Lange Medallion from the Dutch Society of Child Neurology in 1985 and the Hower Award from the American Child Neurology Society in 1986.  Through his work, he has become known throughout the world.  His scientific relations with foreign colleagues have turned into solid friendships, and a great number of patients and students have come to him from all parts of the world.

  Although Alcardi keeps himself up-to-date on all the basic aspects of neurosciences he has always remained a clinician while collaborating closely with electroencephalographers, neuroradiologists, neurosurgeons, pathologists, and biologists.  His scientific works include more than 250 original papers, to say nothing of many guest lectures and papers he has given at international meetings or congresses.  Approximately one-half of his works deal with childhood epilepsy, while many are devoted to brain malformations, progressive encephalopathies, and to almost every aspect of child neurology for example, acute encephalitis (Aicardi et al, 1977).  Childhood epilepsy has, however, always consumed a great deal of Aicardi's activity.  He published the results of more than twenty-five years of work and thought in this field in a significant book, Epilepsy in Children (Alcardi, 1986).

  Jean Aicardi was among the first to be concerned with epilepsy in the first year of a child's life, particularly infantile spasms.  As early as 1957, he made the distinction between cryptogenic and symptomatic forms of infantile spasms, a distinction that has important prognostic implications (Thieffry and Aicardi, 1959).  This concept was to be applied to a variety of other childhood epilepsies.  He and his team continued to study this disorder, especially the etiology, prognosis, and treatment with ACTH or corticosteroids.  Extension of this work led him to study the so-called epilepetic encephalopathies, particularly Lennox-Gastaut syndrome (Chevrie and Aicardi, 1972) and the myoclonic epilepsies of childhood (Aicardi and Chevrie, 1972), of which he contributed to the nosological clarification. He also described a cryptogenic myoclonic epilepsy and an early myoclonic encephalopathy.

  His works on status epilepticus (Aicardi and Chevrie, 1970) and febrile convulsions (Aicardi and Chevrie, 1976) showed the potential role of prolonged motor epileptic seizures, whatever their etiology, even if febrile convulsions are most often involved, in the genesis of some acquired encephalopathies in childhood, especially acquired hemiplegia. He participated actively in studies on the prophylaxis and emergency treatment of febrile convulsions and status epilepticus.

  In the field of the epilepsies with partial seizures, Aicardi supplemented the knowledge of benign epilepsy of childhood with rolandic spikes, and showed that the form of epilepsy with occipital spike-wave complexes suppressed by eye-opening was not a homogeneous entity with an always-favorable outcome. He also described an atypical partial benign epilepsy, which is often mistaken for Lennox-Gastaut syndrome although certain electroclinical features and prognosis completely differentiate each from the other (Aicardi and Chevrie, 1982).

  Working on progressive encephalopathies, Aicardi’s main purpose has always been to go beyond the post-mortem diagnosis obtained from neuropathological data. Because many of the diseases are genetic disorders, he used clinical, electrophysiological, and biochemical features, as well as electron microscopic and biochemical data from muscle, skin, or conjunctival biopsies in order to establish an early diagnosis, often making genetic conseling or prenatal diagnosis possible (Arsenio-Nunes, Goutières, and Aicardi, 1981).

  Among progressive encephalopathies he was interested especially in neuronal ceroid lipofuscinoses, infantile neuroaxonal dystrophy (Castelain and Aicardi, 1979), mitochondrial encephalopathies and Rett syndrome (Hagber et al., 1983). Andreas Rett had described this syndrome in Vienna in 1966, but this description had strangely gone unnoticed. Work by Aicardi and his colleagues beginning in 1980 permitted his discovery, and, in collaboration with Rett and European and American workers, international studies have enhanced our understanding of this disorder. It is now suspected that Rett syndrome, which exclusively affects females, represents approximately 30 to 35 percent of progressive encephalopathies in girls.  More than seven hundreds cases have been published.  This disease begins between six and thirty-six months of age with intellectuel regression and severe behavioral disorders.  Afterwards, loss of purposeful hand use, microcephaly, epileptic seizures, ataxia, as well as a pyramidal syndrome appear in the course of the next two to three decades.  The etiology is still unknown, but Rett syndrome is likely to be a genetic disorder linked to the X chromosome.  Two other new progressive encephalopathies were described by Alcardi.  The first is a familial encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytoses (Aicardi and Goutières, 1984).  The second is an ataxia with ocular motor apraxia mimicking ataxiatelangiectasia (Aicardi et al, 1988).

  The most important contribution of Aicardi in the field of brain malformations was the description in 1965, and again in 1969, of a new morbid entity known at present as Aicardi syndrome, of which more than two hundred cases have been published (Aicardi, Chevrie, and Rousselie, 1969).  Symptomatology of this syndrome includes in a female infant, or at least in a subject with two X chromosomes: infantile spasms, funduscopic lesions known as choroidal lacunae, modified hypsarrhythmia with suppression-burst activity and a split-brain pattern, costo-vertebral malformations, corpus callosum agenesis, intraventricular heterotopias, and often cystic abnormalities of the choroid plexus.  The only pathogenic hypothesis compatible at the moment with the available data is that of a dominant mutation occurring de novo on an X chromosome, a mutation precociously lethal for the male conceptus.  This mutation might be located on the short arm of an X chromosome.

  Jean Aicardi has also studied the clinical and radiological features, as well as the possible genetic etiology, of several other brain malformations, notably Walker-Warburg syndrome (Bordarier, Aicardi, and Goutières, 1984), Joubert syndrome, the syndrome of absence of the septum pellucidum with porencephalies, and the syndrome of the pseudomonoventricle due to a malformation of the septum pellucidum with frontal horn agenesis.

  This short essay can hardly convey the extent of Jean Aicardi’s knowledge and capacity for work.  His passion for child neurology has always allowed him to continue his scientific investigations despite countless difficulties.  He is currently writing a new book that promises to be a personal survey of every field of child neurology.

                                                          Jean-Jacques Chevrie (written in 1989)

 

REFERENCES

· Aicardi, J. 1986.  Epilepsy in Children.  New York: Raven Press.

· Aicardi, J., et al. 1988.  Ataxia-Ocular Motor Apraxia: A Syndrome Mimicking Ataxia-Telangiectasia.  Ann Neur 24:497-502.

· Aicardi, J., and J. J. Chevrie. 1970.  Convulsive Status Epilepticus in Infants and Children.  A Study of 239 Cases.  Epilepsia 11:187-97.

· Aicardi, J., and J. J. Chevrie. 1971. Myoclonic Epilepsies of Childhood.  Neuropàdiatrie 3:177-90.

· Aicardi, J., and J. J. Chevrie. 1976. Febrile Convulsions.  Sequelae and Mental Retardation.  In Brain Dysfunction in Infantile Febrile Convulsions, 247-57.  Ed.  M. A. B. Brazier and F. Coceani.  New York: Raven Press.

· Aicardi, J., and J. J. Chevrie. 1982.  Atypical Partial Benign Epilepsy of Childhood.  Dev Med Child Neur 24:281-92.

· Aicardi, J., J. J. Chevrie, and E Roussélie. 1969.  Le syndrome spasmes en flexion, agénésie calleuse, anomalies choriorétiniennes.  Arcb fran péd 26:1103-20.

· Aicardi, J., and F. Goutières. 1984.  A Progressive Familial Encephalopathy in Infancy with Calcifications of the Basal Ganglia and Chronic Cerebrospinal Fluid Lymphocytosis.  Ann Neur 15:49-54.

· Aicardi, J., et al. 1977.  Acute Measles Encephalitis in Children with Immunodepression.  Ped 59:232-39.

· Arsenio-Nufies, M. L., F. Goutières, and J. Aicardi. 1981.  An Ultramicroscopic Study of Skin and Conjunctival Biopsies in Chronic Neurological Disorders. Ann Neur 9:163-73.

· Bordarier, C., J. Aicardi, and E Goutières. 1984.  Congenital Hydrocephalus and Eye Abnormalities with Severe Developmental Defects: Warburg's Syndrome. Ann Neur 16:60-65.

· Castelein, P., and J.Aicardi. 1979.  Infantile Neuroaxonal Dystrophy.  Brain 102:727-48.

· Chevrie, J. J., and J. Aicardi. 1972.  Childhood Epileptic Encephalopathy with Slow Spike-Wave: A Statistical Study of 80 Cases.  Epilepsia 13:259-71.

· Hagberg, B., et al. 1983.  A Progressive Syndrome of Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use in Girls: Rett's Syndrome: Report of 35 Cases.  Ann Neur 14(4):471-78.

· Thieffry, S., and J. Aicardi. 1959.  Les spasmes en flexion du nourrisson. 36 observations.  Etude critique.  Sem Hôp Paris 34:1167-78.