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Título

Young patient with Prader-Willi Syndrome and Obstructive Sleep Apnea-Hypopnea Syndrome - case report

Introdução

The Prader-Willi syndrome is a genetic disorder caused by loss of function of some genes. As a consequence, patients can present craniofacial alterations, hypotonia, hyperphagia and mental retardation. The first three are directly related to the development of respiratory disorders as hypoventilation and Obstructive Sleep Apnea-Hypopnea Syndrome (OSAHS). The OSAHS is less seen in children, but patients with Prader-Willi syndrome shows a high prevalence of this disorder, demanding closer follow up to initiate treatment as soon as possible, reducing daytime symptoms and preventing future cardiovascular and other complications.

Objetivo

To get attention on the importance of knowing the correlation between Prader-Willi syndrome and OSAHS in childhood, as well as the possible approaches (surgical or not) for better assist infant patients.

Métodos

A male 10 years-old patient, carrier of Prader-Willi syndrome, morbid obesity, hepatic steatosis and arterial hypertension, was referred to the otorrorinolaringology service due to snoring and apnea witnessed by the mother. During the first attendance at this service, was observed STOP-BANG= 4 scale, Epworth= 19/21, cervical circumference= 38, II-degree septal deviation in Cottle’s IV area, adenoid hypertrophy with 40% of cavun obstruction and III-degree tonsils. It was indicated whole-night polysomnography (Type 1), which showed an apnea and hypopnea index (AHI) of 7/hour and sleep fragmentation. Given the OSAHS polysomnographic diagnosis, it was decided to perform septoplasty and adenotonsillectomy, followed by a new polysomnography.

Resultados

After surgical procedure, patient was submitted to a new whole-night polyssonography in wich was observed an 1,53 AHI, a significant decrease in arousal, snoring and daytime sleepiness.

Conclusões

In patients with Prader-Willi syndrome we should always observe the possible association with OSAHS. Identifying the presence of apnea or hypopnea through the study, as well as asking for symptoms such as excessive daytime sleepiness, is essential for the proper treatment of the patient. In patients with Prader-Willi syndrome we should always observe the possible association with OSAHS. It is essential for proper patient management that this respiratory disturb and its symptoms be identified.

Palavras-chave

Prader-Willi Syndrome, Obstructive Sleep Apnea-Hypopnea Syndrome, Apneia, genetic, child

Área

Relato de Caso

Autores

Daniel Villela Silva