Abstract

Abstract Introduction Achondroplasia is a short stature autosomal dominant skeletal dysplasia. Children with Achondroplasia are at risk for multiple medical comorbidities including sleep disordered breathing due to midface hypoplasia and craniocervical junction compression. Recent guidelines from American Academy of Pediatrics on health supervision of children with achondroplasia recommend routine clinical screening for symptoms of obstructive sleep apnea (OSA) and craniocervical junction compression in which case a polysomnogram should be considered. Report of case(s) The patient is a now 15 month old male who was initially seen in sleep medicine clinic at age 4 months for snoring and respiratory distress while awake. Polysomnogram 2 days later demonstrated severe OSA. The study demonstrated an oAHI of 25.1/hour, O2 nadir of 77%, and TcCO2 with evidence of significant hypoventilation with TcCO2 max of 67mmHg. This was adequately treated with supplemental oxygen. The patient subsequently presented to the emergency department at age 7 months with hypoxemic respiratory failure and signs of right heart failure and was started on CPAP. Echocardiogram demonstrated significant pulmonary hypertension. Subsequent CPAP titration study during admission demonstrated adequate treatment of OSA and his pulmonary hypertension significantly improved with the patient requiring no pulmonary hypertension treatment at discharge. At age 9 months, the patient was again admitted with hypoxemic respiratory failure and subsequent brain MRI demonstrated foramen magnum stenosis requiring subsequent surgical decompression. He was discharged on CPAP, however, was not tolerating this at home. Therefore, repeat polysomnogram was obtained that demonstrated severe OSA that was not responsive to supplemental oxygen. The patient was then started on BPAP therapy which he has since been tolerating well. Conclusion Children with achondroplasia are at increased risk for sleep disordered breathing and craniocervical junction compression. Our patient experienced significant complications from OSA at a young age. His sleep apnea worsened significantly in a short period making it unresponsive to previous treatment recommendations. There is a need for further studies to determine better screening guidelines for craniocervical junction narrowing and OSA. This case highlights the dynamic nature of sleep disordered breathing in achondroplasia and need for close follow up and monitoring of symptoms at all clinical encounters. Support (if any)

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