Dados do Trabalho

Título

Transition of care from pediatrics to adult care in a patient with Congenital Central Hypoventilation Syndrome

Introdução

A 22-year-old female with a history of congenital central hypoventilation syndrome (CCHS) diagnosed when she was 4 years-old, the same age she was tracheostomized. The patient was successfully decannulated at age 12 and is currently under nocturnal non-invasive ventilation (NIV) via a nasal mask. She transitioned to adult care at age 14. She reported to have gained 16 kg since then. The patient's adherence to NIV is suboptimal. A split-night PSG was ordered and revealed a pattern suggestive of hypoventilation and a apnea-hypopnea index (AHI) of 26 events/hour. The patient was advised on the need for weight loss to control comorbidities, as well as the importance of continuing daily use of NIV.

Objetivo

Report a CCHS case transitioned from pediatrics to adulthood care.

Métodos

A literature review was conducted by searching the PubMed databases

Resultados

CCHS is a rare autosomal dominant disorder with an estimated incidence of 1 in 200,000 live births. It is characterized by sleep-related hypoventilation, typically associated with the PHOX2B gene mutation. In general, the diagnosis is established in childhood, primarily within the first month of life. Currently, with a better understanding of the disease and improved therapeutic support, patient survival has increased, with a higher percentage of patients reaching adulthood. Patients require lifelong ventilatory support to achieve normocapnia and SpO2 ≥ 95%. Generally, adult patients adapt well to the exclusive use of NIV during nighttime. Additionally, patients should be monitored for symptoms suggestive of dysautonomia. An annual 72-hour holter monitoring is recommended due to the increased risk of electrophysiological abnormalities, as well as an echocardiogram to monitor pulmonary hypertension. An annual ophthalmologic evaluation is recommended due to the higher prevalence of pupillary abnormalities, convergence insufficiency, strabismus and ptosis. Active investigation into the presence of gastrointestinal symptoms, such as constipation or reflux, should be conducted. Patients should be counseled on the risks associated with the use of sedative drugs and alcohol, particularly in adolescents. Women of childbearing age should receive genetic counseling and maternity support with specialized care.

Conclusões

Although rare, CCHS is associated with increasing survival rates, highlighting the importance of ensuring a seamless transition from pediatric to adolescent and adult care.

Palavras -chave

Congenital Central Hypoventilation Syndrome, Genetics