Literature DB >> 8771521

Congenital central hypoventilation syndrome: ocular findings in 37 children.

D S Goldberg1, I H Ludwig.   

Abstract

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare cause of central sleep apnea. Although ophthalmic abnormalities have been reported, the ocular findings have not been discussed in detail.
METHODS: We examined or obtained the records of 37 children with CCHS.
RESULTS: Twenty-seven patients were found to have abnormal pupils, most of which were miotic and reacted poorly to light. In 18 cases, the anterior surface of the iris was unusually smooth. Ten of the children with abnormal pupils also demonstrated light-near dissociation. Twenty had strabismus of various types, and 18 showed evidence of convergence insufficiency.
CONCLUSIONS: The high incidence of strabismus, pupillary abnormalities, and convergence insufficiency may be a result of neurologic defects in the midbrain.

Entities:  

Mesh:

Year:  1996        PMID: 8771521     DOI: 10.3928/0191-3913-19960501-11

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN: 0191-3913            Impact factor:   1.402


  18 in total

1.  Intermittent exotropia increasing with near fixation: a "soft" sign of neurological disease.

Authors:  P H Phillips; K J Fray; M C Brodsky
Journal:  Br J Ophthalmol       Date:  2005-09       Impact factor: 4.638

2.  Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome.

Authors:  Reshma Amin; Andrea Riekstins; Suhail Al-Saleh; Colin Massicotte; Allan L Coates; Ian MacLusky
Journal:  Can Respir J       Date:  2011 Mar-Apr       Impact factor: 2.409

3.  Novel neuropathologic findings in the Haddad syndrome.

Authors:  Nestor D Tomycz; Robin L Haynes; Edith F Schmidt; Kate Ackerson; Hannah C Kinney
Journal:  Acta Neuropathol       Date:  2009-10-21       Impact factor: 17.088

4.  Intermittent exotropia increasing with near fixation: a "soft" sign of neurological disease.

Authors:  P H Phillips; K J Fray; M C Brodsky
Journal:  Br J Ophthalmol       Date:  2005-12       Impact factor: 4.638

5.  Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

Authors:  Tomoyuki Shimokaze; Ayako Sasaki; Toru Meguro; Hisaya Hasegawa; Yuka Hiraku; Tetsushi Yoshikawa; Yumiko Kishikawa; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2015-06-11       Impact factor: 3.172

6.  Some congenital diseases may just show up later.

Authors:  Manju S Hurvitz; Rakesh Bhattacharjee
Journal:  J Clin Sleep Med       Date:  2020-11-15       Impact factor: 4.062

7.  Selectively diminished corpus callosum fibers in congenital central hypoventilation syndrome.

Authors:  R Kumar; P M Macey; M A Woo; R M Harper
Journal:  Neuroscience       Date:  2011-01-19       Impact factor: 3.590

8.  Central Alveolar Hypoventilation Syndromes.

Authors:  Hiren Muzumdar; Raanan Arens
Journal:  Sleep Med Clin       Date:  2008-12-01

Review 9.  Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

Authors:  Debra E Weese-Mayer; Casey M Rand; Amy Zhou; Michael S Carroll; Carl E Hunt
Journal:  Pediatr Res       Date:  2016-09-27       Impact factor: 3.756

Review 10.  Breathing with phox2b.

Authors:  Véronique Dubreuil; Jacques Barhanin; Christo Goridis; Jean-François Brunet
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2009-09-12       Impact factor: 6.237

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.