Catherine Annie Neill (1921 – 2006) was an English pediatric cardiologist.
Born and trained in England, but essentially spent her entire post-graduate career in the United States at the Johns Hopkins Hospital.
Pioneer and leading expert on paediatric cardiology. Co-author of many of the early papers on the surgery for paediatric cardiac abnormalities, and undertook early descriptive studies of cholesterol abnormalities in children.
Studied many pulmonary-vein malformations and named ‘scimitar syndrome’. Was an active collaborator for decades in the Baltimore – Washington Infant Study of risk factors for congenital heart disease.
- Born 3 September 1921 in Highgate, London the daughter of Sir Thomas Neill, who pioneered the introduction of national health insurance in 1911
- 1938-1944 Medical school at the Royal Free Hospital School of Medicine, London; MB BS, MRCS, LRCP (1944)
- 1945-1950 House physician, then registrar at the Queen Elizabeth hospital for children in Hackney, London. Diploma in child health (DCH) in 1946 followed by MD and MRCP in 1947.
- 1950 – Paediatric cardiology fellowship at Toronto’s Hospital for Sick Children, Canada
- 1951-1954 Paediatric cardiology fellowship at Johns Hopkins, training with Helen B. Taussig at Johns Hopkins
- 1954-1956 Queen Elizabeth Hospital for Children, London
- 1956-1989 Johns Hopkins
- 1970 – FRCP
- 1989 – Retired
- 1990 – Returned to work as professor of pediatrics and senior consultant for pediatric cardiology
- 1993 – Professor Emeritus of Pediatric Cardiology. Officially retired, but continued to volunteer in the Johns Hopkins medical archives, organising the papers of the institution’s founders
- Died 23 February 2006
Neill-Dingwall syndrome [Cockayne syndrome]
Cockayne syndrome (CS) is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. ‘Cachectic dwarfism’ describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient.
Two distinct types of CS have been identified. CS type A (CSA) the classic and most common form as described [OMIM #216400]. CS type B (CSB) is more severe and characterized by the early onset of symptoms. [OMIM #133540]
First described in 1936 by Edward Alfred Cockayne (1880-1956) in his publication “Dwarfism with retinal atrophy and deafness”. In 1946, Cockayne followed up the patients and reported new clinical features of progressive hearing loss, visual dysfunction and joint contractures.
The condition is sometimes referred to as Neill-Dingwall syndrome. In 1950, Catherine A. Neill and Mary M. Dingwall described the disease in two brothers, and noted the presence of intracranial calcification. They described a progeria-like syndrome characterized by dwarfism, microcephaly, severe mental retardation, and ‘pepper-and-salt’ chorioretinitis. Death from early atherosclerosis occurred, as in progeria. Examination of the brain showed massive pericapillary calcification in the putamina, thalami and cerebellar white matter superficial to the dentate nuclei.
Scimitar syndrome (1960)
Neill was the first to ascribe the name scimitar syndrome in 1960. The term arose because of the curved-sword appearance on a radiograph of pulmonary veins from an abnormally developed right lung that drain into the inferior vena cava. This landmark paper also described the familial occurrence in father and daughter of the syndrome and made the clinical distinction between two groups of patients.
- Neill CA, Dingwall MM. A syndrome resembling progeria: A review of two cases. Arch Dis Child. 1950;25(123):213-223. [Neill-Dingwall syndrome]
- Neill CA. Development of the pulmonary veins; with reference to the embryology of anomalies of pulmonary venous return. Pediatrics. 1956;18(6):880-887.
- Neill CA, Ferencz C, Sabiston DC, Sheldon H. The familial occurrence of hypoplastic right lung with systemic arterial supply and venous drainage “scimitar syndrome”. Bull Johns Hopkins Hosp. 1960;107:1-21. [scimitar syndrome]
- Ferencz C, Rubin JD, McCarter RJ, Neill CA, et al. Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study. Am J Epidemiol. 1985;121(1):31-36.
- Ferencz C, Neill CA, et al. Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study. J Pediatr. 1989;114(1):79-86.
- Neill CA, Clark EB, Clark C. The Heart of a Child: What Families Need to Know about Heart Disorders in Children. 1992 [2e. 2001]
- Neill CA, Clark EB. Tetralogy of Fallot. The first 300 years. Tex Heart Inst J. 1994;21(4):272-279.
- Neill CA. Helen Brooke Taussig. J Pediatr. 1994;125(3):499-502
- Neill CA, Clark EB. The Developing Heart: A ‘History’ of Pediatric Cardiology 1995
- Oransky I. Catherine Neill. Lancet 2006; 367(9519): 1312
- Olson B. Dr. Catherine A. Neill, 84, pediatric cardiology pioneer. Baltimore Sun. 26 Feb 2006
- Richmond C. Catherine Neill: Cardiologist who pioneered research into congenital heart defects. The Guardian 2 March 2006
- Biography: Catherine Annie Neill. Lives of the Fellows of the Royal College of Physicians of London. Munk’s Roll: Volume XII.
- Bibliography. Neill, Catherine A. WorldCat Identities
- Mulligan ME. History of scimitar syndrome. Radiology. 1999;210(1):288-290.
- Thiene G. Historical Notes. In: The Complete Reference for Scimitar Syndrome. 2017: 9-15
- Holt PD, Berdon WE, Marans Z, Griffiths S, Hsu D. Scimitar vein draining to the left atrium and a historical review of the scimitar syndrome. Pediatr Radiol. 2004;34(5):409-413
- Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936;11(61):1-8
- Cockayne EA. Dwarfism with Retinal Atrophy and Deafness. Arch Dis Child. 1946;21(105):52-54.
- Karikkineth AC et al. Cockayne syndrome: Clinical features, model systems and pathways. Ageing Res Rev. 2017;33:3-17.
- COCKAYNE SYNDROME A; CSA. OMIM 216400
BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Associate Professor Curtin Medical School, Curtin University. Emergency physician, Sir Charles Gairdner Hospital. Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |