Dados do Trabalho

Título

Obstructive sleep apnea in an adult individual with Robin Sequence: case report

Introdução

Robin Sequence (RS) is a rare craniofacial anomaly (between 1: 8,500 and 1: 30,000 live births) related to mutations in the SOX9, COL, TCOF1, PLOR1C and POLR1D genes. Clinically, it presents as a triad characterized by micrognathia, glossoptosis and airway obstruction, associated or not with cleft palate. Severe micro- and retrognathia, observed in neonates, remain in adulthood in a considerable number of cases, resulting in an extremely convex facial pattern. When associated with the occurrence of tonic dysfunctions of the peripharyngeal muscles and glossoptosis, retrognathia may lead to obstructive sleep apnea (OSA)

Objetivo

To report the case of an adult patient with Robin Sequence (RS) seen at the Sleep Studies Unit (Laboratory of Physiology HRAC-USP)

Métodos

17-year-old male patient with a repaired isolated cleft palate, with complaints of loud snoring and excessive daytime sleepiness. Physical examination revealed a BMI of 21,5 (eutrophy), cervical circumference = 32cm (reference value <40cm) and abdominal circumference = 66cm (reference value <94cm)

Resultados

The main polysomnographic results, using EMBLA N7000 system, were: number of arousals = 21, arousal index = 1,2, numbers of apnea/hypopnea = 50, apnea/hypopnea index = 10.1 (mild OSA), mean duration of apneas = 21s , mean SatO2 = 94,6%, lowest SatO2 = 88%, reduced sleep efficiency (59%), increased REM sleep latency (328min), and REM sleep reduction (15min–3%)

Conclusões

Although this young individual does not present anthropometric characteristics that predispose to OSA, a (mild) apnea condition was detected, probably due to the presence of craniofacial conditions imposed by the anomaly and which justify the respiratory complaints frequently observed in this population.

Palavras-chave

Pierre Robin Syndrome, Glossoptosis, Sleep Apnea, Obstructive, Polysomnography