O que é a Síndrome de Cockayne?

O que é a Síndrome de Cockayne?

Quais são as principais características de SC?

Como se herda SC?

Quais são as chances de ter outros filhos com SC?

Where does the name come from?

O que é a Síndrome de Cockayne?    

A Síndrome de Cockayne (SC) é uma forma rara de nanismo. Ela é genética e herdada de forma recessiva.

A SC tipo I ou a SC clássica são as manifestaçoes mais comuns, nas quais a criança é basicamente normal no seu primeiro ano de vida apresentando sintomas da doença no segundo ano de vida.

Na SC tipo II apresentam-se sintomas prematuros, ocorrendo durante o primeiro ano de vida. Uma forma mais amena de SC tem sido identificada, nas quais a crianca possui somente algumas características da doença.

Quais são as principais características de SC?   

Segue-se uma lista das características mais comuns apresentadas por crianças com SC. Nenhuma criança tem que apresentar necessariamente todas as características desta lista.

-Primeiro ano de vida normal, apresentando características da doença no seu segundo ano de vida

-Nanismo

-Microcefalia (cabeça pequena)

-Desenvolvimento neurológico retardado (progressivo)

-Deficiência mental (progressivo)

-Andar vacilante

-Propensão a queimaduras de sol

-Retinopatia e/ou cataratas (progressiva)

-Perda de audição (progressiva)

-Cáries dentárias

-Aparência facial típica:

-Rosto miúdo

-Olhos fundos

-Nariz em forma de bico

-Maxilares projetados

-Perda da gordura subcutânea

-Envelhecimento prematuro

-Curta expectativa de vida

Como se herda SC?    

A SC vêm de um gene recessivo, portanto ambos os pais têm que ser portadores para ter um filho com SC.

Quais são as chances de ter outros filhos com SC?

Se o casal é portador do gene, já tendo um filho com SC, a chance de ter outro filho com SC é de 1 para 4, ou seja 25% de chance.

Edward Alfred Cockayne was educated at Charterhouse School and Balliol College, University of Oxford, where he excelled in the natural sciences. He was an intern at the St. Bartholomew’s Hospital, London, and qualified in medicine in 1907. Cockayne became a member of the Royal College of Physicians in 1909, fellow in 1916, and in 1912 received his doctorate from the University of Oxford.

During World War I Cockayne served in the Royal Navy and was at Archangel during the Russian revolution. After demobilisation in 1919 he was outpatient physician at the Middlesex Hospital and the Hospital for Sick Children, Great Ormond Street, becoming full physician at these hospitals in 1924 and 1934, respectively. He remained at the Hospital for Sick Children for the rest of his career.

Cockayne combined paediatrics with general practice and was particularly interested in endocrinology and rare, genetic children’s diseases - the latter was to become a lifelong interest in hereditary diseases, and in 1933 he published his monograph Inherited Abnormalities of the Skin and its Appendages. This was the first book to be exclusively concerned with the genodermatoses and it contained numerous pedigrees which had been culled from the literature. Cockayne’s stated purpose in writing the book was to draw the attention of dermatologists and geneticists to this potentially fruitful field of research.

Cockayne was a bird-like, slightly built man with an unpredictable temper. He was widely acknowledged as a superb diagnostician but had little interest in treatment or undergraduate teaching. was a bachelor and it is said that he had many acquaintances and admirers but no close friends.

Cockayne's great interest besides his medical work was in entomology. He built up a massive collection of butterflies and moths and in 1943 became president of the Royal Society of Entomology. After his retirement in 1947 he transferred his collection of insects from his flat to the Walter Rothschild Zoological Museum at Tring, Hertfordshire, 33 miles from London, where he became assistant curator. His name is perpetuated in the Cockayne Suite at the Royal Society of Medicine. For his service to entomology he was awarded the Order of the British Empire.


Bibliography

• Inherited Abnormalities of the Skin and its Appendages. 1933.
  This was the first book to be exclusively concerned with the genodermatoses, containing an extensive collation of pedigrees from the literature.
  
  This was the first book to be exclusively concerned with the genodermatoses, containing an extensive collation of pedigrees from the literature.
  
  
• V. A. McKusick:
  Genetics and dermatology, or if I were to rewrite Cockayne's Inherited Abnormalities of the Skin.
  Journal of Investigative Dermatology, Baltimore, 1973, 60: 343-359.
  This work also provides biographical information on Cockayne, including his important contributions to entomology.