Journal de biologie néonatale

Abstrait

Avoidance of Tracheostomy in a Newborn of Congenital Central Hypoventilation Syndrome

Yosuke Kaneshi, Akira Sudo, Kazutoshi Cho, Tatsuo Satomi, Masaya Uchida, Takeo Nakajima, Satoshi Hattori and Hisanori Minakami

We experienced a term male neonate who required respiratory support soon after birth. Information on his brother aged 156 months at that time with clinically diagnosed Congenital central hypoventilation syndrome (CCHS) and respiratory support by noninvasive ventilation (NIV) since 103 months old prompted us to perform genetic testing. An early diagnosis of moderate type CCHS with genetic test in this patient and his brother in addition to demand of the patient’s family encouraged us to continue NIV and avoid tracheostomy in this patient. The patient aged 45 months with Developmental Quotient (DQ) of 83 managed to do well requiring nocturnal NIV alone. This patient had never required an emergent admission to the hospital for respiratory problems, while his brother aged 203 months required it 16 times and once before and after the NIV, respectively. Thus, the NIV appeared to reduce the risk of emergent admission to the hospital. This conveyed great satisfaction in their family.