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Título

MICROGNATHIA AND OBESITY AS DETERMINANT FACTORS FOR SEVERE OBSTRUCTIVE APNEA IN A TREACHER COLLINS SYNDROME INDIVIDUAL.

Introdução

Treacher Collins syndrome (TCS) is a rare congenital malformation which includes zygomatic arch and mandibular hypoplasia, choanal atresia, cleft palate and airway narrowing.

Objetivo

This study aimed at evaluating, by means of polysomnography, the sleep of an individual diagnosed with TCS.

Métodos

Female patient, 18y, with Treacher Collins Syndrome, regularly registered at HRAC / USP. High-intensity snoring, breathing pauses during sleep, excessive daytime somnolence, lip cyanosis and mouth breathing during sleep were symptoms referred. Berlin questionnaire indicated high risk for obstructive sleep apnea (OSA). Anthropometric assessment reveled a grade III obesity: BMI=42, cervical circumference=41cm (ref. value<36cm) and abdominal circumference=113cm (ref. value<80cm). Common craniofacial features of TCS were observed such as zygomatic hypoplasia, micro- and retrognathia, represented by the cephalometric angles SNB=70° (ref. value = 80°±2°) and ANB=-13° (ref. value = 2°±2°) denoting a class II skeletal pattern. She underwent a type 1 polysomnography examination at the Sleep Studies Unit (Laboratory of Physiology HRAC-USP) using an EMBLA N7000 system.

Resultados

The main polysomnographic results were: number of arousals=12, arousal index=5,3, numbers of apnea/hypopnea=629, apnea/hypopnea index=77,5 (severe OSA), mean duration of apneas=47,4s, mean SatO2=86,9%, lowest SatO2=58% (22% below 80%). 3D tomographic analysis (Dolhpin Imaging) of the airways was also performed and the pharyngeal volume and minimal cross-sectional areas corresponded to 12cm3 (ref. values = 20±5cm3) and 40,7mm2 (ref. values = 108±40mm2), respectively.

Conclusões

Micrognathia, as a result of TCS, and obesity were determinant factors for the occurrence of a severe OSA condition in this patient. This case evidences the importance of multiprofessional follow-up for individuals with TCS and enforces the importance of pharyngeal dimensions in the genesis of OSA, probably due to the combination of two important risk factors, obesity and the craniofacial malformation itself.

Palavras-chave

Sleep Apnea, Obstructive, Mandibulofacial Dysostosis, Polysomnography, Tomography

Sleep Apnea, Obstructive, Mandibulofacial Dysostosis, Polysomnography, Tomography.

Área

Relato de Caso

Instituições

Hospital de Reabilitação Anomalias Craniofaciais - HRAC - USP - - Sao Paulo - Brasil

Autores

Leide Vilma Fidélis da Silva, Alexandre Almeida Ribeiro, Mariana Mendes Silva, Sergio Henrique Kiemle Trindade, Cristiano Tonello, Ivy Kiemle Trindade-Suedam