Canavan’s disease
http://www.100md.com
《神经病学神经外科学杂志》
304 Beverley Road, Analby, Hull HU10 7BG, UK; jmspearce@freenet.co.uk
Keywords: Canavan’s disease; historical note
Myrtelle May Canavan (1879–1953) described a progressive familial spongy degeneration of the cerebral white matter.1 Since van Bogaert and Bertrand2,3 also described the condition, and established its nosology, it is known as Canavan’s disease or, van Bogaert–Bertrand2,4 syndrome.
Myrtelle Canavan was an American neuropathologist, born 24 June 1879 in St Johns, Michigan.5 She graduated MD, at the Michigan State College, and the Women’s Medical College of Pennsylvania in 1905. She married Dr James Francis Canavan. In 1907, while working as laboratory assistant at Danvers State Hospital, Massachusetts, Elmer Ernest Southard, Bullard Professor of Neuropathology, fostered her interest in neuropathology, a field still in its infancy. They published several papers together.
She became resident pathologist at the Boston State Hospital in 1910 and four years later was appointed pathologist to the Massachusetts Department of Mental Diseases where she investigated the neuropathological basis of mental illnesses. After Southard’s death in 1920, she became acting director of the laboratories of the Boston Psychopathic Hospital, and, in 1924, was appointed Associate Professor of Neuropathology at Boston University and Curator of the Warren Anatomical Museum at Harvard Medical School. Over the next 21 years, Canavan enhanced the collection of the museum, acquiring some 1500 specimens for research and teaching.
It was in 1931 when she published the paper about a child aged 16 and a half months,1 suffering from what she regarded as a variant of Schilder’s disease. She showed the characteristic myelin vacuolation in subcortical white matter and giant mitochondria with dense filamentous granules and extensive myelin destruction. She described a disease of either sex. It has a predilection for Ashkenazi Jews, but occurs in other races. It usually becomes evident between the ages of three and nine months. An early sign is hypotonia and lack of head control. The clinical picture is of a quiet apathetic fair haired baby with a drooping head. Megalencephaly, spasticity, mental and motor retardation, and optic atrophy, with parenchymal cerebral degeneration, end in a decerebrate state. Many die in infancy, but some survive into adolescence. Studies have shown aspartoacylase deficiency that causes N-acetylaspartic acid to accumulate and damage cerebral myelin, with excess N-acetylaspartate in plasma and urine.6 Canavan’s disease is inherited as an autosomal recessive trait, with a mutation at chromosome 17, which synthesises aspartoacylase.
Canavan was an excellent mentor; she was the cynosure for the neuropathologist Louise Eisenhardt, who in 1959 could boast training 70% of the certified neurosurgeons. She retired as curator in 1945 without achieving a faculty appointment at Harvard. In her later years she developed Parkinson’s disease, and died in 1953.
References
Canavan MM. Schilder’s encephalitis periaxialis diffusa. Report of a case in a child aged sixteen and one-half months. Arch Neurol Psychiatry 1931;25:299–308.
van Bogaert LI, Bertrand I. Sur une idiotie familiale avec dégénérescence spongieuse du névraxe (Note préliminaire). Acta neurologica et psychiatrica belgica 1949;49:572–87.
van Bogaert L , Bertrand I. Spongy degeneration of the brain in infancy. Springfield, Illinois: Charles Thomas, 1967.
van Bogaert L . Familial spongy degeneration of brain (complementary study of family R). Acta Psychiatrica et Neurologica Scandinavica 1963;39:107–13.
Obituary. JAMA 1953;153:1295.
Matalon R , Michals K, Sebesta D, et al. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavn disease. Am J Med Gen 1988;29:463–71.(J M S Pearce)
Keywords: Canavan’s disease; historical note
Myrtelle May Canavan (1879–1953) described a progressive familial spongy degeneration of the cerebral white matter.1 Since van Bogaert and Bertrand2,3 also described the condition, and established its nosology, it is known as Canavan’s disease or, van Bogaert–Bertrand2,4 syndrome.
Myrtelle Canavan was an American neuropathologist, born 24 June 1879 in St Johns, Michigan.5 She graduated MD, at the Michigan State College, and the Women’s Medical College of Pennsylvania in 1905. She married Dr James Francis Canavan. In 1907, while working as laboratory assistant at Danvers State Hospital, Massachusetts, Elmer Ernest Southard, Bullard Professor of Neuropathology, fostered her interest in neuropathology, a field still in its infancy. They published several papers together.
She became resident pathologist at the Boston State Hospital in 1910 and four years later was appointed pathologist to the Massachusetts Department of Mental Diseases where she investigated the neuropathological basis of mental illnesses. After Southard’s death in 1920, she became acting director of the laboratories of the Boston Psychopathic Hospital, and, in 1924, was appointed Associate Professor of Neuropathology at Boston University and Curator of the Warren Anatomical Museum at Harvard Medical School. Over the next 21 years, Canavan enhanced the collection of the museum, acquiring some 1500 specimens for research and teaching.
It was in 1931 when she published the paper about a child aged 16 and a half months,1 suffering from what she regarded as a variant of Schilder’s disease. She showed the characteristic myelin vacuolation in subcortical white matter and giant mitochondria with dense filamentous granules and extensive myelin destruction. She described a disease of either sex. It has a predilection for Ashkenazi Jews, but occurs in other races. It usually becomes evident between the ages of three and nine months. An early sign is hypotonia and lack of head control. The clinical picture is of a quiet apathetic fair haired baby with a drooping head. Megalencephaly, spasticity, mental and motor retardation, and optic atrophy, with parenchymal cerebral degeneration, end in a decerebrate state. Many die in infancy, but some survive into adolescence. Studies have shown aspartoacylase deficiency that causes N-acetylaspartic acid to accumulate and damage cerebral myelin, with excess N-acetylaspartate in plasma and urine.6 Canavan’s disease is inherited as an autosomal recessive trait, with a mutation at chromosome 17, which synthesises aspartoacylase.
Canavan was an excellent mentor; she was the cynosure for the neuropathologist Louise Eisenhardt, who in 1959 could boast training 70% of the certified neurosurgeons. She retired as curator in 1945 without achieving a faculty appointment at Harvard. In her later years she developed Parkinson’s disease, and died in 1953.
References
Canavan MM. Schilder’s encephalitis periaxialis diffusa. Report of a case in a child aged sixteen and one-half months. Arch Neurol Psychiatry 1931;25:299–308.
van Bogaert LI, Bertrand I. Sur une idiotie familiale avec dégénérescence spongieuse du névraxe (Note préliminaire). Acta neurologica et psychiatrica belgica 1949;49:572–87.
van Bogaert L , Bertrand I. Spongy degeneration of the brain in infancy. Springfield, Illinois: Charles Thomas, 1967.
van Bogaert L . Familial spongy degeneration of brain (complementary study of family R). Acta Psychiatrica et Neurologica Scandinavica 1963;39:107–13.
Obituary. JAMA 1953;153:1295.
Matalon R , Michals K, Sebesta D, et al. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavn disease. Am J Med Gen 1988;29:463–71.(J M S Pearce)