Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series
Abstract Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX2B genes. We present five cases from three generations within the same family with varying degrees of...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-08-01
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| Series: | Respirology Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/rcr2.999 |
| _version_ | 1811221772569149440 |
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| author | Vishal Saddi Ganesh Thambipillay Marina Pimenta Bradley Martin Gregory Blecher Arthur Teng |
| author_facet | Vishal Saddi Ganesh Thambipillay Marina Pimenta Bradley Martin Gregory Blecher Arthur Teng |
| author_sort | Vishal Saddi |
| collection | DOAJ |
| description | Abstract Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX2B genes. We present five cases from three generations within the same family with varying degrees of phenotypic expression of the PHOX2B gene mutation. The cases were diagnosed following identification of CCHS in index case at birth. This case series underscores the importance of screening first‐degree relatives of individuals with confirmed CCHS and alerts the clinicians to maintain a high degree of suspicion in asymptomatic family members given the high degree of phenotypic variability of CCHS. |
| first_indexed | 2024-04-12T08:06:11Z |
| format | Article |
| id | doaj.art-ede6a20b51754970b3e4666f4af570b2 |
| institution | Directory Open Access Journal |
| issn | 2051-3380 |
| language | English |
| last_indexed | 2024-04-12T08:06:11Z |
| publishDate | 2022-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Respirology Case Reports |
| spelling | doaj.art-ede6a20b51754970b3e4666f4af570b22022-12-22T03:41:11ZengWileyRespirology Case Reports2051-33802022-08-01108n/an/a10.1002/rcr2.999Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case seriesVishal Saddi0Ganesh Thambipillay1Marina Pimenta2Bradley Martin3Gregory Blecher4Arthur Teng5Department of Sleep Medicine Sydney Children's Hospital Randwick New South Wales AustraliaDepartment of Sleep Medicine Sydney Children's Hospital Randwick New South Wales AustraliaDepartment of Sleep Medicine Sydney Children's Hospital Randwick New South Wales AustraliaDepartment of Sleep Medicine Sydney Children's Hospital Randwick New South Wales AustraliaDepartment of Sleep Medicine Sydney Children's Hospital Randwick New South Wales AustraliaDepartment of Sleep Medicine Sydney Children's Hospital Randwick New South Wales AustraliaAbstract Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX2B genes. We present five cases from three generations within the same family with varying degrees of phenotypic expression of the PHOX2B gene mutation. The cases were diagnosed following identification of CCHS in index case at birth. This case series underscores the importance of screening first‐degree relatives of individuals with confirmed CCHS and alerts the clinicians to maintain a high degree of suspicion in asymptomatic family members given the high degree of phenotypic variability of CCHS.https://doi.org/10.1002/rcr2.999BPAPCCHSinfantsPHOX2btracheostomy |
| spellingShingle | Vishal Saddi Ganesh Thambipillay Marina Pimenta Bradley Martin Gregory Blecher Arthur Teng Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series Respirology Case Reports BPAP CCHS infants PHOX2b tracheostomy |
| title | Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series |
| title_full | Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series |
| title_fullStr | Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series |
| title_full_unstemmed | Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series |
| title_short | Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series |
| title_sort | three generations of a family diagnosed with congenital central hypoventilation syndrome a case series |
| topic | BPAP CCHS infants PHOX2b tracheostomy |
| url | https://doi.org/10.1002/rcr2.999 |
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