ESPE Abstracts

Background: Pycnodysostosis is an autosomal recessive disease characterized by short stature, osteosclerosis, increased bone fragility. In these patients maxillary and mandibular hypoplasia, flattening of the mandibular angle, long soft palate, narrow palate structure can lead to pharyngeal narrowing and obstructive sleep apnea syndrome (OSAS).

Objective and hypotheses: Our aim was to evaluate sleep disordered breathing in children with pycnodysostosis.

Method: Demographic data, pediatric sleep questionnaire (PQ16) scores, polysomnography results and treatments of pycnodysostosis patients who were followed by Pediatric Endocrinology Department in Marmara University were evaluated.

Results: Mean age of the eight patients (seven girls and one boy) in the study was 12.2±4.2 years, mean age at diagnosis was 6.5±4 years. Habitual snoring was reported in 7 (87%) and apnea during sleep was reported in 3 (37.5%) patients. Two patients had adenoidectomy and one had tonsillectomy. Four patients (50%) received GH. Mean PQ16 score was 0.41±0.19 (normal <0.33). Polysomnography revealed OSAS in six patients (75%). Two (25%) had severe and 4 (50%) had mild OSAS. OSAS was detected in five of six patients with PQ16 score >0.33. One of the two patients with PQ16 score <0.33 had mild OSAS. Obstructive apnea hypopnea index (OAHI) ranged between 0 and 15.1 (median 2.9) (1–5; mild, 5–10; moderate, >10; severe), central apnea index ranged between 0–2.1 (median 0.4). Mean SpO2 value was 94.5±1.6% and lowest SpO2 value was 90.5±3.5%. BPAP was started in three patients. Control PSG was planned for other patients during follow-up.

Conclusion: Sleep related breathing disorders are frequent in pycnodysostosis and although PQ16 can be used to screen, polysomnography should be offered to all patients with pycnodysostosis.