In Context
Lifeline Chris McDermott is a reader in neurology at the University of Sheffield, UK, where he is co-director of the Motor Neuron Disease Care and Research Centre. He leads a research group whose goal is to develop the evidence base for symptom management in patients motor neuron disease.
See Articles page 702
What has been the greatest achievement of your career? The opportunity to work in partnership with people living with motor neuron disease, so as to develop solutions to the problems they face on a daily basis. And the greatest embarrassment? My trousers falling down in the operating room during surgery and having to continue the procedure in only my underwear. What do you think is the most neglected field of science or medicine at the moment? Palliative care, particularly in the last few months of life. What inspires you? The refusal to accept that just because something cannot be cured, there is nothing to be done. If you had not entered your current profession, what would you have liked to do? Be a pop star, starship captain, or historian. Who was your most influential teacher, and why? Mr Wooton, when I was 11 years old, made me see that anything was possible. How do you relax? By laughing, eating, and travelling with friends and family. What is your greatest regret? Neither learning to play the piano nor learning to speak a foreign language when I was younger. What is your favourite film and why? Pride is my current favourite. It made me laugh, cry, and indulge in childhood nostalgia. How would you improve the public’s understanding of research? With a scripted reality show. What was your first experiment as a child? Does sandwich spread taste the same as mayonnaise? Conclusion: no.
690
Focal point The road to Vogt’s triad The characterisation of tuberous sclerosis has been a cumulative process, possibly owing to its multisystem manifestations.1 Even though many of the signs and symptoms could be identified in isolated case reports, most notably by von Recklinghausen in 1862,2 the first clear description is credited to Désiré-Magloire Bourneville.3 In 1880, Bourneville treated a 15-year-old girl with a history of seizures, psychomotor retardation, and “confluent vascularpapulous eruption of the nose, the cheeks, and forehead”. Post-mortem examination revealed hard, dense, tuber-like lesions in the cerebral gyri, which Bourneville named sclérose tubéreuse des circonvolutions cérébrales. In 1885, Felix Balzer and Pierre Eugène Ménétrier reported a case of what they referred to as adenoma of the sebaceous glands of the face and scalp.4 Five years later, this description was also used by the Scottish dermatologist John James Pringle to describe the butterfly-pattern facial rash of a 25-year-old woman who also presented with subnormal intelligence and rough lesions on the arms and legs. Pringle believed the facial glands to be the source of the problem, leading to the eponym Pringle’s adenoma sebaceum. We now know that the papules are neither adenoma nor derived from the sebaceous glands, and they are referred to as facial angiofibroma.5 It was the German paediatric neurologist Heinrich Vogt, in 1908, who consolidated these different aspects—the facial rash, the intellectual deficits, the seizures—of tuberous sclerosis into a unifying diagnostic classification, known as Vogt’s triad of epilepsy, mental insufficiency, and adenoma sebaceum.4 Vogt’s diagnostic triad defined the condition for the next 60 years, until it was superseded by the monograph published by Manuel Gómez in 1979, which described for the first time the full clinical spectrum of tuberous sclerosis complex.6
Steven Goodrick 1
What was the most memorable comment you ever received from a referee? This is the paper we have been waiting for.
2
If you were Bill Gates, how would you spend your fortune? I would set up a foundation to fund the world’s best researchers and incentivise industry to facilitate advances in treating people with motor neuron disease.
4
3
5 6
Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis. Lancet Neurol 2015; 14: 733–45. Jay V. Historical contributions to paediatric pathology: tuberous sclerosis. Pediatr Dev Pathol 2004; 2: 197–98. Bourneville DM. Sclérose tubéreuse des circonvolutions cérébrales. Arch Neurol 1880; 1: 81–91. Curatolo P, ed. Tuberous sclerosis complex: from basic science to clinical phenotypes. London: MacKeith Press, 2003. Pringle JJ. A case of congenital adenoma sebaceum. Br J Dermatol 1890; 2: 1–14. Gómez MR. Tuberous sclerosis, 1st edn. New York: Raven Press, 1979.
www.thelancet.com/neurology Vol 14 July 2015
Lifeline Chris McDermott is a reader in neurology at the University of Sheffield, UK, where he is co-director of the Motor Neuron Disease Care and Research Centre. He leads a research group whose goal is to develop the evidence base for symptom management in patients motor neuron disease.
See Articles page 702
What has been the greatest achievement of your career? The opportunity to work in partnership with people living with motor neuron disease, so as to develop solutions to the problems they face on a daily basis. And the greatest embarrassment? My trousers falling down in the operating room during surgery and having to continue the procedure in only my underwear. What do you think is the most neglected field of science or medicine at the moment? Palliative care, particularly in the last few months of life. What inspires you? The refusal to accept that just because something cannot be cured, there is nothing to be done. If you had not entered your current profession, what would you have liked to do? Be a pop star, starship captain, or historian. Who was your most influential teacher, and why? Mr Wooton, when I was 11 years old, made me see that anything was possible. How do you relax? By laughing, eating, and travelling with friends and family. What is your greatest regret? Neither learning to play the piano nor learning to speak a foreign language when I was younger. What is your favourite film and why? Pride is my current favourite. It made me laugh, cry, and indulge in childhood nostalgia. How would you improve the public’s understanding of research? With a scripted reality show. What was your first experiment as a child? Does sandwich spread taste the same as mayonnaise? Conclusion: no.
690
Focal point The road to Vogt’s triad The characterisation of tuberous sclerosis has been a cumulative process, possibly owing to its multisystem manifestations.1 Even though many of the signs and symptoms could be identified in isolated case reports, most notably by von Recklinghausen in 1862,2 the first clear description is credited to Désiré-Magloire Bourneville.3 In 1880, Bourneville treated a 15-year-old girl with a history of seizures, psychomotor retardation, and “confluent vascularpapulous eruption of the nose, the cheeks, and forehead”. Post-mortem examination revealed hard, dense, tuber-like lesions in the cerebral gyri, which Bourneville named sclérose tubéreuse des circonvolutions cérébrales. In 1885, Felix Balzer and Pierre Eugène Ménétrier reported a case of what they referred to as adenoma of the sebaceous glands of the face and scalp.4 Five years later, this description was also used by the Scottish dermatologist John James Pringle to describe the butterfly-pattern facial rash of a 25-year-old woman who also presented with subnormal intelligence and rough lesions on the arms and legs. Pringle believed the facial glands to be the source of the problem, leading to the eponym Pringle’s adenoma sebaceum. We now know that the papules are neither adenoma nor derived from the sebaceous glands, and they are referred to as facial angiofibroma.5 It was the German paediatric neurologist Heinrich Vogt, in 1908, who consolidated these different aspects—the facial rash, the intellectual deficits, the seizures—of tuberous sclerosis into a unifying diagnostic classification, known as Vogt’s triad of epilepsy, mental insufficiency, and adenoma sebaceum.4 Vogt’s diagnostic triad defined the condition for the next 60 years, until it was superseded by the monograph published by Manuel Gómez in 1979, which described for the first time the full clinical spectrum of tuberous sclerosis complex.6
Steven Goodrick 1
What was the most memorable comment you ever received from a referee? This is the paper we have been waiting for.
2
If you were Bill Gates, how would you spend your fortune? I would set up a foundation to fund the world’s best researchers and incentivise industry to facilitate advances in treating people with motor neuron disease.
4
3
5 6
Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis. Lancet Neurol 2015; 14: 733–45. Jay V. Historical contributions to paediatric pathology: tuberous sclerosis. Pediatr Dev Pathol 2004; 2: 197–98. Bourneville DM. Sclérose tubéreuse des circonvolutions cérébrales. Arch Neurol 1880; 1: 81–91. Curatolo P, ed. Tuberous sclerosis complex: from basic science to clinical phenotypes. London: MacKeith Press, 2003. Pringle JJ. A case of congenital adenoma sebaceum. Br J Dermatol 1890; 2: 1–14. Gómez MR. Tuberous sclerosis, 1st edn. New York: Raven Press, 1979.
www.thelancet.com/neurology Vol 14 July 2015
