Zeitschrift für Neonatalbiologie

Abstrakt

Avoiding a tracheostomy in a newborn with congenital central hypoventilation syndrome

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

We reported a male newborn who required ventilatory support shortly after birth. Information about his then 156-month-old brother with clinically diagnosed congenital central hypoventilation syndrome (CCHS) and ventilatory support by noninvasive ventilation (NIV) since 103 months of age prompted us to perform genetic testing. Early diagnosis of moderate-type CCHS by genetic testing in this patient and his brother, as well as requests from the patient's family, encouraged us to continue NIV and avoid tracheostomy in this patient. The 45-month-old patient, with a developmental quotient (DQ) of 83, was doing well and required only nocturnal NIV. This patient never required emergency hospitalization for respiratory problems, whereas his 203-month-old brother required emergency room admission 16 times, once before and once after NIV. NIV therefore appeared to reduce the risk of emergency hospital admission, which caused great satisfaction in the family.