Désiré-Magloire Bourneville and his contributions to pediatric neurology.

Désiré-Magloire Bourneville ought to be thought of as the father of Pediatric Neurology for his significant contributions to the field. He worked as a physician, politician, writer, and editor. He was the first to describe the autosomal dominant genetic condition known as "tuberous sclerosis complex", after conducting an autopsy on a young female patient, where the main finding in the central nervous system was multiple dense tubers. The patient had refractory epilepsy and intellectual disability. His work was based on the study of epilepsy and idiocy, and he was also an advocate of public health and social medicine education; creating day hospital programs for children with this type of neurologic disease.

Désiré-Magloire Bourneville and his contributions to pediatric neurology / Désiré-Magloire Bourneville y sus aportes a la neurología pediátrica

ABSTRACT Désiré-Magloire Bourneville ought to be thought of as the father of Pediatric Neurology for his significant contributions to the field. He worked as a physician, politician, writer, and editor. He was the first to describe the autosomal dominant genetic condition known as "tuberous sclerosis complex", after conducting an autopsy on a young female patient, where the main finding in the central nervous system was multiple dense tubers. The patient had refractory epilepsy and intellectual disability. His work was based on the study of epilepsy and idiocy, and he was also an advocate of public health and social medicine education; creating day hospital programs for children with this type of neurologic disease.

RESUMEN Désiré-Magloire Bourneville debería ser considerado como el padre de la Neurología Pediátrica por sus importantes contribuciones en este campo. Trabajó como médico, político, escritor y editor. Hizo las primeras descripciones de la condición genética autosómica dominante conocida como "Complejo de esclerosis tuberosa", después de realizar una autopsia en una paciente joven, en la que el principal hallazgo en el sistema nervioso central fueron múltiples lesiones tipo tubérculos. La paciente tenía epilepsia refractaria y discapacidad intelectual como síntomas asociados. Su trabajo se basó en el estudio de la epilepsia y la idiotez, a su vez fue un defensor de salud pública y la educación en medicina social; creando programas de hospital diurno para niños con diferentes tipos de enfermedades neurológicas.

Professor Manuel Rodríguez Gómez and the tuberous sclerosis complex paradigm.

OBJECTIVE: The authors present an historical review of aspects of the life of Professor Manuel R. Gómez, a Spanish neuropediatrician, who graduated in Havana and is known internationally for his work while he was in charge of Pediatric Neurology at the Mayo Clinic in Rochester, USA. RESULTS: His main contribution was related to the tuberous sclerosis complex, demystifying the Vogt triad previously used as a diagnostic criterion, and he was considered the "father of the tuberous sclerosis complex " in the USA.

Professor Manuel Rodríguez Gómez and the tuberous sclerosis complex paradigm / Professor Manuel Rodríguez Gómez e o paradigma da Esclerose Tuberosa

ABSTRACT The authors present an historical review of aspects of the life of Professor Manuel R. Gómez, a Spanish neuropediatrician, who graduated in Havana and is known internationally for his work while he was in charge of Pediatric Neurology at the Mayo Clinic in Rochester, USA. His main contribution was related to the tuberous sclerosis complex, demystifying the Vogt triad previously used as a diagnostic criterion, and he was considered the "father of the tuberous sclerosis complex " in the USA.

RESUMO Os autores apresentam uma revisão histórica sobre aspectos da vida do professor Manuel R. Gómez, neuropediatra espanhol, formado em Havana e conhecido internacionalmente pelo seu trabalho à frente do serviço de Neurologia Pediátrica da clínica Mayo em Rochester, EUA. Sua principal contribuição esteve relacionada com o complexo esclerose tuberosa desmitificando a tríade de Vogt até então usada como critério diagnóstico da doença, pelo que foi considerado o 'pai do complexo esclerose tuberosa' nos EUA.

Tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable. Most individuals have seizures, commonly including infantile spasms, and there is variable intellectual disability and autism. Neonates can present with cardiac failure due to intracardiac rhabdomyomas. The likelihood of renal angiomyolipomas increases with age, and renal disease is the most common cause of death in adults with TSC. Pulmonary involvement occurs predominantly in women and carries a high morbidity and mortality. TSC is inherited as an autosomal dominant trait, but spontaneous mutations are common. A mutation of either TSC1 on chromosome 9 or TSC2 on chromosome 16 leads to dysfunction of hamartin or tuberin, respectively. These two proteins form a functional complex that modulates the mammalian target of rapamycin (mTOR) pathway. Medications that inhibit mTOR are being used to treat TSC-related tumors, and current studies are investigating whether these agents could alleviate other TSC complications. Consensus statements guide identification and optimal management of many of the TSC-related complications at diagnosis and throughout the lifespan. A multidisciplinary approach is necessary for optimal management of individuals with TSC.

[Bourneville's medico-social work]. / L'oeuvre médico-sociale de Bourneville.

Bourneville's disease is well known but his medical social work is particularly unrecognised. However, he provoked many shifts in hospital policy, medical and paramedical studies, regional organization providing for the welfare of mothers-to-be and infants. He has been at the avant-garde for the treatment of mental illness of infants or children.

[Koenen, Kothe and peri-ungual fibroma in tuberous sclerosis]. / Koenen, Kothe und die periungualen Fibrome bei tuberöser Sklerose.

The periungual fibromas in tuberous sclerosis are also known as Koenen tumors. Joannes Henricus Maria Koenen was born on March 10, 1893, in Eindhoven and died in Bois-le-Duc May 29, 1956. From 1910 to 1918 he studied medicine at the University of Amsterdam. Then he worked as a physician at the "Coude-water" asylum in Rosmalen and from 1929 in the "Voorburg" asylum in Vught. In 1932 he published his publication concerning a family with tuberous sclerosis in which photographs of periungual fibromas are shown. His thesis in 1933 at the University in Leiden was titled "Imbecility in children. Its Importance in pedagogic and social regard, by reason of an investigation in some communities in Noord-Brabant". Later he was appointed director of a state mental institution. The periungual fibromas in tuberous sclerosis were first described by Richad Kothe in Munich in 1903.

History of the tuberous sclerosis complex.

How the concept of the tuberous sclerosis complex (TSC) has developed over a period of time spanning 160 years has come form simple clinical observations, pathological studies and technological advances of imaging methods. It all began with PFO Rayer's color plate of a drawing of a patient who apparently had facial angiofibroma, published in the year 1835, and continued with von Recklinghausen's report of cardiac myomas and cerebral sclerosis in a newborn who had died minutes after birth. The seminal contribution was provided by D.M. Bourneville who, in 1880, reported and named as tuberous sclerosis the neuropathological findings in a young patient with seizures, hemiplegia, and mental subnormality who also had renal tumors. We now know that TSC is a hamartomatosis, and thanks to studies of recent years using positional cloning and DNA analysis, we are beginning to understand the biological mechanisms of these disorders which include NF1, NF2 and von Hippel-Lindau disease. Unique to TSC is that it is both phenotypically and genotypically heterogeneous. One of two suspected genes found in chromosome 16 by positional cloning has been cloned (TSC2). Another one that was discovered earlier in chromosome 9 (TSC1) has not yet been characterized. The gene product from TSC2 has been named tuberin.

The early history of tuberous sclerosis.

The early history of tuberous sclerosis can be traced from European wax models of the skin lesions in the 1830s to its recognition as a systemic disease by the early 1900s. There are various origins for the terms used for tuberous sclerosis, including Pringle's disease, Bourneville's disease, adenoma sebaceum, and epiloia. Since these terms are confusing and inaccurate, we urge that they no longer be used.