there has been no description of chronic respiratory failure secondary to significant hypotonia . Sleep problems , including poor sleeping patterns and mixed sleep apnea , have been reported . 5 Pulmonary hypertension was described in a case of a 21-year-old patient with hypertrophic cardiomyopathy . 10
Hypoventilation is one of the main physiologic causes of hypoxemia . 11 Hypoventilation and alveolar underventilation can be related to groups of pathological disorders such as central and peripheral neuromuscular disorders , thoracic cage disorders , or exposure to several medications and substances . Decreased respiratory neuromuscular or thoracic cage function can be related both directly and indirectly to hypotonia secondary to genetic disorders . 12 Other causes of hypoventilation include gas exchange abnormalities related to pulmonary parenchymal causes or airway disorders . 11
CONCLUSION
We detailed the medical history of a child who suffered from severe laryngomalacia and respiratory failure secondary to CFC syndrome , which was resolved by establishing an airway access through tracheostomy and chronic bi-level ventilation . While laryngomalacia , muscle weakness , and hypotonia are reported to occur in patients with CFC syndrome , the literature lacks in sufficiently reported cases of severe laryngomalacia and respiratory failure requiring tracheostomy and long-term ventilation . Our case highlights the benefit of prompt management of critical airway and respiratory failure for the patient ’ s clinical stability and the ability to thrive .
REFERENCES
1 . Allanson JE , Annerén G , Aoki Y , et al . Cardio-facio-cutaneous syndrome : Does genotype predict phenotype ? Am J Med Genet Part C Semin Med Genet . 2011 ; 157 ( 2 ): 129-135 . doi : 10.1002 / ajmg . c . 30295 .
2 . Nava C , Hanna N , Michot C , Pereira S , Pouvreau N , Niihori T , Aoki Y , Matsubara Y , Arveiler B , Lacombe D , Pasmant E , Parfait B , Baumann C , Héron D , Sigaudy S , Toutain A , Rio M , Goldenberg A , Leheup B , Verloes A , Cavé H . Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS / MAPK signalling pathway : genotypephenotype relationships and overlap with Costello syndrome . J Med Genet . 2007 Dec ; 44 ( 12 ): 763-71 . doi : 10.1136 / jmg . 2007.050450 . Epub 2007 Aug 17 . PMID : 17704260 ; PMCID : PMC2652823 .
3 . Pierpont MEM , Magoulas PL , Adi S , et al . Cardio-facio-cutaneous syndrome : Clinical features , di-agnosis , and management guidelines . Pediatrics . 2014 ; 134 ( 4 ): e1149-e1162 . doi : 10.1542 / peds . 2013-3189 .
4 . Roberts A , Allanson J , Jadico SK , et al . The cardiofaciocutaneous syndrome . J Med Genet . 2006 ; 43 ( 11 ): 833-842 . doi : 10.1136 / jmg . 2006.042796 .
5 . Armour CM , Allanson JE . Further delineation of cardio-facio-cutaneous syndrome : Clinical fea-tures of 38 individuals with proven mutations . J Med Genet . 2008 ; 45 ( 4 ): 249-254 . doi : 10.1136 / jmg . 2007.054460 .
6 . Joyce S , Gordon K , Brice G , et al . The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome . Eur J Hum Genet . 2016 ; 24 ( 5 ): 690-696 . doi : 10.1038 / ejhg . 2015.175 .
7 . Yoon G , Rosenberg J , Blaser S , Rauen KA . Neurological complications of cardio-facio-cutaneous syndrome . Dev Med Child Neurol . 2007 ; 49 ( 12 ): 894-899 . doi : 10.1111 / j . 1469-8749.2007.00894 . x .
8 . Grebe TA , Clericuzio C . Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome : Identification of a severe phenotype . Am J Med Genet .
2000 ; 95 ( 2 ): 135-143 . doi : 10.1002 / 1096- 8628 ( 20001113 ) 95:2 < 135 :: AID- AJMG8 > 3.0 . CO ; 2-J .
9 . Reinker KA , Stevenson DA , Tsung A . Orthopaedic conditions in Ras / MAPK related disorders . J Pe-diatr Orthop . 2011 ; 31 ( 5 ): 599 – 605 .
10 . Roberts A , Allanson J , Jadico SK , et al . The cardiofaciocutaneous syndrome . J Med Genet . 2006 ; 43 ( 11 ): 833 – 842 . [ PMC free article ] [ PubMed ] [ Google Scholar ] [ Ref list ].
11 . Pierson DJ . Pathophysiology and clinical effects of chronic hypoxia . Respir Care . 2000 Jan ; 45 ( 1 ): 39-51 ; discussion 51-3 . PMID : 10771781 .
12 . Williams AJ . ABC of oxygen : assessing and interpreting arterial blood gases and acid-base bal-ance . BMJ . 1998 Oct 31 ; 317 ( 7167 ): 1213-6 . doi : 10.1136 / bmj . 317.7167.1213 . PMID : 9794863 ; PMCID : PMC1114160 .
West Virginia Medical Journal • December 2023 • 17