Anesthetic implications of undiagnosed late onset central hypoventilation syndrome in a child: from elective tonsillectomy to tracheostomy

Mahmoud, Mohamed; Bryan, Yvon F.; Gunter, Joel B.; Kreeger, Renee Nierman; Sadhasivam, Senthilkumar

doi:10.1111/j.1460-9592.2007.02284.x

Cited by 32 publications

(18 citation statements)

References 16 publications

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“…To our knowledge, the child and family reported here represent the first description of a kindred with later‐onset CCHS and the 20/24 PHOX2B genotype. Individuals with CCHS are very sensitive to central nervous system (CNS) depressants (8,9), so it is likely that anesthetic exposure tipped the precarious balance of our patient with OSA and subtle hypoventilation, thus triggering acute respiratory decompensation and seizures. This report emphasizes the need for increased clinical awareness of the later presentation CCHS in childhood and adulthood, maintaining a high index of suspicion in clinical care.…”

Section: Discussionmentioning

confidence: 99%

Later‐onset congenital central hypoventilation syndrome due to a heterozygous 24‐polyalanine repeat expansion mutation in the PHOX2B gene

et al. 2008

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Section: Discussionmentioning

confidence: 99%

Later‐onset congenital central hypoventilation syndrome due to a heterozygous 24‐polyalanine repeat expansion mutation in the PHOX2B gene

et al. 2008

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“…Though the term ''congenital'' as used in CCHS historically connoted presentation in the newborn period, patients presenting with later-onset CCHS (LO-CCHS) have been described. [18][19][20][21][22][23][24][26][27][28]57,72 With increased awareness of CCHS, discovery that PHOX2B is the disease-defining gene for CCHS, and recent availability of diagnostic tests for PHOX2B mutations, an increase in diagnosis of LO-CCHS with presentation in later infancy, childhood, and adulthood is anticipated.…”

Section: Autosomal Dominant Inheritance Of Cchs and The Phox2b Mutationmentioning

confidence: 99%

Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

Weese‐Mayer

Rand

Berry‐Kravis

et al. 2009

Pediatric Pulmonology

102

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Summary. The modern story of CCHS began in 1970 with the first description by Mellins et al., came most visibly to the public eye with the ATS Statement in 1999, and continues with increasingly fast paced advances in genetics. Affected individuals have diffuse autonomic nervous system dysregulation (ANSD). The paired-like homeobox gene PHOX2B is the disease-defining gene for CCHS; a mutation in the PHOX2B gene is requisite to the diagnosis of CCHS. Approximately 90% of individuals with the CCHS phenotype will be heterozygous for a polyalanine repeat expansion mutation (PARM); the normal allele will have 20 alanines and the affected allele will have 24-33 alanines (genotypes 20/24-20/33). The remaining $10% of individuals with CCHS will have a non-PARM (NPARM), in the PHOX2B gene; these will be missense, nonsense, or frameshift. CCHS and PHOX2B are inherited in an autosomal dominant manner with a stable mutation. Approximately 8% of parents of a CCHS proband will be mosaic for the PHOX2B mutation. A growing number of cases of CCHS are identified after the newborn period, with presentation from infancy into adulthood. An improved understanding of the molecular basis of the PHOX2B mutations and of the PHOX2B genotype/CCHS phenotype relationship will allow physicians to anticipate the clinical phenotype for each affected individual. To best convey the remarkable history of CCHS, and to describe the value of recognizing CCHS as a model for translational and transitional autonomic medicine, we present this review article in the format of a chronological story, from 1970 to the present day.

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“…Trakeostomi ve mekanik ventilasyon desteği hipoventilasyon dönemlerinde zorunludur. 4 Bu olguda hipoventilasyon tanısı sonrasında iki aylıkken trakeostomi açılmış olması, postoperatif dönem için güvende olmamızı sağladı.…”

Section: Discussionunclassified

Haddad Syndrome and Anesthesia: Case Report

Güçlü¹,

Bermede²,

Alanoğlu³

et al. 2015

Turkiye Klinikleri J Anest Reanim

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Anesthetic implications of undiagnosed late onset central hypoventilation syndrome in a child: from elective tonsillectomy to tracheostomy

Cited by 32 publications

References 16 publications

Later‐onset congenital central hypoventilation syndrome due to a heterozygous 24‐polyalanine repeat expansion mutation in the PHOX2B gene

Later‐onset congenital central hypoventilation syndrome due to a heterozygous 24‐polyalanine repeat expansion mutation in the PHOX2B gene

Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

Haddad Syndrome and Anesthesia: Case Report

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