Désiré-Magloire Bourneville was a French physician, born in Garencières, Normandy
on October 21, 1840 ([Figure]). Bourneville was a well-known neurologist who initially described tuberous sclerosis
in 1880, after he noticed white “tubers” and cerebral sclerosis at necropsy in the
brains of patients with epilepsy and intellectual disability[1],[2],[3].
Figure Désiré-Magloire Bourneville (1840-1909). By Jesús Gómez.
Very little is known about his personal life. His childhood was spent in a modest
family. In his youth, he was inspired to study Medicine in Paris by a close family
friend and chief of service at the Hospice de Bicêtre, Dr. Louis Delasiauve (1804-1893), who later became his mentor. He married and had
a son, Marcel, an infantry sergeant, who died in hospital at age 27[1],[2]. Bourneville's wife died before him in 1906.
Bourneville had a prolific career, as a doctor, politician, writer, and editor. After
finishing his studies in Medicine in 1865, he started working as an intern in different
services. In 1868, he also worked with French neurologist, Jean Martin Charcot[1],[2],[4]. He presented his dissertation in 1870, entitled Études de thermométrie clinique dans l'hemorragie cérébrale et dans quelques autres
maladies de l'encéphale. He had profound, everlasting admiration for his two masters, who, by chance, died
in the same year in 1893[4].
It is important to mention that the term “medical intern” began in post-revolutionary
France. However, according to the Association Amicale des Anciens Internes en Médecine des Hçpitaux de Paris, for centuries before the appearance of the terms boarding school or intern doctor, young doctors were called compagnons internes, which referred to these doctors who supported the work of surgeons and doctors in
hospitals in Paris[5].
Bourneville's political career began after the constitution of the Third Republic
in 1875[3]. In 1876, he was elected a city counselor in Paris; continued as a counselor in
the Seine department in 1879, and culminated as a deputy in the national assembly.
While in office he was a fierce advocate of health system reforms and the expansion
of the hospitals in Paris, promoted global health coverage, and founded several public
nursing schools[3],[4].
As an editor, in 1860, Bourneville collaborated with the Journal des Maladies Mentales, and La Médecine Contemporaine. In 1873, he worked on the magazine Le Mouvement Médical and founded the magazine Progrès Médical. The latter was a bulletin that published the ideas of Charcot and his school[3],[4].
Bourneville was also very closely involved in public health, and pioneered the opening
of the first secular nursing school, which began in 1878, at La Salpêtrière Hospital.
In doing so, he turned La Salpêtrière into the first school for nonreligious nurses
and a multidisciplinary medical service where diseases of the nervous system were
treated and managed. Bourneville's work was considered to be based mainly on idiocy
and epilepsy[1],[2]. In 1879, Bourneville was appointed head of the service of the alienated at the
Hospice de Bicêtre, where epileptic patients and idiotic children were treated (by then the term idiocy
referred to “little abnormal children”)[4].
Bourneville became the director of the first school for patients with intellectual
disabilities. He worked in the pediatric facility at the Hospice de Bicêtre, with the title of Médecin des services d'aliénés, from 1879 to 1905. He also created the first day school for special education for
patients with intellectual disabilities and epileptic children in Paris[3].
In the early 20th century, he led a medical-pedagogical action movement that proposed that all children
with any type of disability should receive education. The movement succeeded and a
law was issued in 1909, which instituted reinforcement classes, in addition to those
given in elementary school. The governess who taught these lessons had to be a trained
nurse. All Bourneville's research papers were published in the article Recherches cliniques et thérapeutiques sur l’épilepsie, l'hystérie et l'idiotie
[3].
Bourneville's recognition started to fade in the early 1890s, and reached its lowest
point shortly after Charcot's death in 1893. In 1905, Bourneville retired and died,
isolated and impoverished, on May 28, 1909. He was cremated after a civil funeral
in Père-Lachaise Cemetery in Paris[3],[4],[6].
The first case of tuberous sclerosis that Bourneville attended was a 15-year-old girl
named Marie. Marie had severe epilepsy, neurodevelopmental delay, and a papular eruption
on her nose, cheeks and forehead. She had presented with seizures since infancy, had
learning difficulties, and she could neither walk nor talk. She was treated with multiple
strategies including: quinine, bromide of camphor, leeches behind the ears, and amyl
nitrite. None of them seemed to work and her seizures became progressively worse.
At the age of three, she was declared “a hopeless case”. Marie died in May 1879, and
a postmortem study revealed dense tubers in the cerebral gyri, henceforth known as
sclérose tubéreuse des circonvolutions cérébrales, determining them to be the cause of the seizures. In addition to these findings,
white-colored hard masses “the size of a walnut” were found in both kidneys. Not long
afterwards, in 1908, Heinrich Vogt (1875-1957) described the classic triad, that included
epilepsy, mental retardation, and sebaceous adenomas[3].
Today, tuberous sclerosis is known as a complex genetic condition characterized by
alterations in cellular growth and differentiation, involving different systems. It
is caused by a mutation of the hamartin and/or tuberin genes, TSC1 and TSC2, involving chromosomes 9 and 16, respectively[7]. Tuberous sclerosis complex is a heterogeneous genetic disorder, considered to have
an autosomal dominant pattern of inheritance, variable expression and complete penetrance,
with mainly neurologic and cutaneous manifestations. It affects many organs such as
the skin, heart, kidneys, and central nervous system. The prevalence is 1/5,000-10,000
live births[8],[9].
Some of the main features of this disease are cutaneous signs: among them facial angiofibromas,
previously known as sebaceous adenomas. These lesions were described in 1835 by Pierre
Francois Olive (1793-1867). He published an atlas of illustrations where he reported
a case with multiple facial erythematous angiofibromas[9],[10]. Major and minor criteria were established by the Tuberous Sclerosis Complex Consensus
Conference in 2012 ([Table])[8],[11],[12].
Table
Diagnostic criteria of the tuberous sclerosis complex[11].
|
Major features
|
Minor features
|
|
Hypomelanotic macules (≥ 3, at least 5 mm diameter)
|
“Confetti” skin lesions
|
|
Angiofibromas (≥ 3) or fibrous cephalic plaque
|
Dental enamel pits (≥ 3)
|
|
Ungual fibromas (≥ 2)
|
Retinal achromic patch
|
|
Shagreen patch
|
Intraoral fibromas (≥ 2)
|
|
Multiple retinal hamartomas (≥ 2)
|
Retinal achromic patch
|
|
Cortical dysplasia
|
Multiple renal cysts
|
|
Subependymal nodules
|
Nonrenal hamartomas
|
|
Subependymal giant cell tumor
|
|
|
Cardiac rhabdomyoma
|
|
|
Lymphangioleiomyomatosis
|
|
|
Angiomyolipomas (≥ 2) --
|
|
Bourneville's ideas and his deep political convictions regarding Medicine as a Social
Science are very much alive to this day[1],[2],[3],[4]. His care for children with physical or intellectual disability, and his strides
towards ensuring adequate care for them have also become a solid contribution to Pediatric
Neurology and Medicine[4].
