Literature DB >> 7810287

Cockayne syndrome: a case report.

F C O'Brien, B Ginsberg.   

Abstract

A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. Although the underlying abnormality appears to be autosomal recessive inheritance or metabolic (possibly thymic) dysfunction, there is no consensus on etiology. The multiple organ involvement carries significant implications for the anesthetist. Intubation can be technically difficult, and care of the skin can be problematic. Essential hypertension, hepatic deficiencies, osteoporosis, deafness, blindness, and other effects of premature aging may be encountered making perioperative management a challenge.

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Year:  1994        PMID: 7810287

Source DB:  PubMed          Journal:  AANA J        ISSN: 0094-6354


  1 in total

1.  Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis.

Authors:  Tawhida Y Abdel Ghaffar; Ezzat S Elsobky; Solaf M Elsayed
Journal:  Orphanet J Rare Dis       Date:  2011-04-08       Impact factor: 4.123

  1 in total

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