2011, Number 4
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Rev Mex Anest 2011; 34 (4)
DiGeorge syndrome. Anesthetic conduct 309 Soledad Bellas, M.D., Felisa Marín, M.D.
Bellas S, Marín F, Sepúlveda A
Language: Spanish
References: 10
Page: 309-312
PDF size: 93.19 Kb.
ABSTRACT
Background: 22q11.2 Deletion syndrome is a condition of abnormality development, characterized by a three-megabase microdeletion in chromosome 22q11. This problem is associated with a variety of phenotypes clinicians, including DiGeorge syndrome, which is characterized by cardiovascular, oropharyngeal, immunological, endocrine and neurological disorders.
Case report: We report a 12-month age diagnosed as having DiGeorge syndrome who underwent inhalational general anesthesia for the channeling of a central line run by ultrasound.
Discussion: We studied the potential problems for the conduct Anesthesia for patients diagnosed with DiGeorge syndrome.
REFERENCES
Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler PJ. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet 1993;45:308-312.
Thomas JA, Graham JM. Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician. Clinical Pediatrics 1997:253-266.
Oskarsdottir S, Vujic M, Fasth A. Incidence and prevelence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004;89:148-151.
Kirby ML. Cellular and malecular contribution of the cardiac neural crest to cardiovascular development. Trends Cardiovasc Med 1993;3:18-23.
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798-804.
Momma K, Matsuoka R, Tkao A. Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr Cardiol 1999;20:97-102.
Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet 1993;45:313-319.
Bristow JD, Bernstein HS. Counseling families with chromosome 22q11 deletions: the catch in CATCH-22. J Am Coll Cardiol 1998;32:499-501.
Roubertie A, Semprino M, Chaze AM, Rivier F, Humbertclaude V, Cheminal R. Neurological presentation of three patients with 22q11 deletion (CATCH 22q11.2 deletion syndrome). Brain and Development 2001;23:810-814.
Flashburg MH, Dunbar BS, August G, Watson D. Anesthesia for surgery in an infant with DiGeorge syndrome. Anesthesiology 1983;58:479-481.