Catathrenia, also known as sleep-related groaning, is a relatively rare sleep disorder with characteristics consistent with loud groaning on expiration during sleep. Organic causes of catathrenia are unknown and the decision of whether or not to treat is unclear. Limited research is available concerning appropriate treatment and none of the literature focuses primarily on pediatrics. We report a series of three, male pediatric cases with catathrenia that were treated with continuous positive airway pressure (CPAP) while identifying and comparing clinical symptoms, polysomnogram findings, treatment, and patient response to treatment. Catathrenia may be associated with abnormal nocturnal oxygenation and ventilation and may lead to negative clinical daytime symptoms which may warrant treatment. If catathrenia leads to sleep disruption and negative daytime symptoms, treatment with CPAP should be considered.

Introduction Sleep disturbances following traumatic brain injury (TBI) are commonly diagnosed and can affect up to 70% of individuals, with many occurring after mild injuries such as concussions.1 Patients can experience a variety of sleep problems such as sleep-wake disturbances, infrequent parasomnias, and periodic limb movement disorders. While periodic limb movements (PLMs) can occur in pediatric patients, they are rare compared to their adult counterparts. Literature is limited regarding the presence of PLMs post-concussion in the pediatric population. We describe an unusual case of PLMs in the setting of mild TBI in a pediatric patient. Report of Cases: A 6-year-old male with a past medical history significant for adeno-tonsillar hypertrophy and chronic cough was brought to the emergency department by ambulance after being found facedown secondary to a fall at school. Physical examination findings were significant for dried blood at the nares with an abrasion to the anterior nasal bridge. No other signs of trauma were noted, and his Glasgow Coma Scale (GCS) was 15. Computerized Tomography (CT) scan of the head was negative for any acute intracranial abnormality. He was diagnosed with a mild TBI and sent home with concussion precautions. Prior to his concussion, at the age of 4, he was diagnosed with obstructive sleep apnea (OSA) via polysomnography (PSG). Moderate OSA was noted with an apnea hypopnea index (AHI) of 8.1 per hour leading to adenotonsillectomy. Five weeks after his concussion, an evaluation by the pediatrician revealed complaints of restless sleep and worsened emotional lability prompting a referral to the sleep clinic. By comparison, the patient’s post-TBI PSG at age 6 showed no evidence of sleep-disordered breathing (AHI of 1.48 per hour) but with new periodic limb movements and an elevated PLM index of 6.56 per hour. An iron panel is pending. Conclusion PLMs in the setting of pediatric TBI is a rarely diagnosed entity and, to our knowledge, has never been reported in the literature. Our case suggests that clinicians should have a high level of suspicion for sleep problems post-TBI and consider PSG to assess for PLMs which can affect recovery and the overall quality-of-life of the pediatric patient. Support (If Any) Viola-Saltzman M, Watson NF. Traumatic brain injury and sleep disorders. Neurol Clin. 2012;30(4):1299-1312. doi:10.1016/j.ncl.2012.08.008

Introduction Chiari malformation (CM) occurs when a portion of the cerebellum herniates through the foramen magnum. CM is categorized as two types. Type 1 involves the cerebellar tonsils and type 2 involves the cerebellum and brain stem. Those with CM can be asymptomatic to having debilitating neurologic symptoms such as dysphagia, tinnitus, emesis, balance difficulty, muscle weakness, and/or headache. Central sleep apnea (CSA) and obstructive sleep apnea (OSA) have been associated with CM. It is postulated that the sleep disordered breathing (SDB) is due to compression of the medulla which houses the breathing center and cranial nerves that play a role in nocturnal breathing. OSA has been thought to be related to muscle weakness of the lower airway in those with CM. After resolving CM with surgical decompression, residual OSA is common requiring treatment with positive airway pressure therapy. Report of Cases: A 3-year-old male with a history of OSA and tonsillar hypertrophy. Polysomnography (PSG) was performed after tonsillectomy and adenoidectomy indicating severe OSA (oAHI 17.7/hr) and CSA (CSAI 29.9/hr). A titration study was conducted and bilevel positive airway pressure spontaneous/timed (BPAP ST) 10/6 cmH2O with a backup rate of 12 breaths per minute was utilized further resolving his SDB and daytime sleepiness. After months of BPAP ST therapy, he presented to an urgent care with symptoms of somnolence, emesis, and nystagmus of the left eye. Magnetic resonance imaging of the brain revealed a 2 cm herniation of the cerebellar tonsils indicating CM type 1. Neurosurgery performed surgical decompression without complication. Post-operative PSG indicated significant improvement of OSA (oAHI of 3.45/hr) and resolution of CSA (0.9/hr). BPAP ST therapy was discontinued with the resolution of his daytime sleepiness and SDB. Conclusion This case demonstrates a patient with severe OSA and CSA due to an undiagnosed CM type 1. OSA and CSA are associated with CM; however, residual OSA typically exists status post decompression and can require positive airway pressure therapy for treatment. Our case demonstrates the need for consideration of CM in patients with complex sleep apnea and that surgical decompression can improve both OSA and CSA in these patients. Support (If Any)

Introduction Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder with characteristic facial dysmorphisms, upper airway structural abnormalities, and varying degrees of intellectual and neurologic deficits. Affected patients can have many sleep problems including chronic insomnia and obstructive sleep apnea; however, there is no literature indicating central sleep apnea as a common sleep disorder in this patient population. We describe a patient with CdLS with an unusual presentation of both severe obstructive and central sleep apnea. Report of case(s) The patient is a 12-year-old female with CdLS, global developmental delay, repaired bilateral cleft-palate, and oropharyngeal dysphagia. She was referred for diagnostic polysomnography for evaluation of snoring. Physical examination findings were significant for distinctive features of the head and face including microcephaly, micrognathia, and synophrys. Neurologically, the patient was non-verbal and wheelchair bound. Pre-evaluation screening indicated no concerns from the caregiver regarding problems with sleep initiation, maintenance, or daytime symptoms. Polysomnography (PSG) at age 7 years revealed severe obstructive and central sleep apnea with an apnea-hypopnea index (AHI) of 78.2/hr. The majority of these were central events (68.44/hr). There were no epileptiform foci recorded. Bilevel Positive Airway Pressure (BPAP) in Spontaneous/Timed (S/T) mode was titrated during the study which resolved all central events. Magnetic resonance imaging of the brain was obtained indicating mild hypoplasia of the corpus callosum. Since the initial PSG, 5 additional routine studies were conducted and progressive worsening of central sleep apnea was noted with the highest recorded AHI of 108.8/hr (central events: 81.4/hr). Apneic events were fairly managed with BPAP in ST mode. Conclusion Sleep-disordered breathing in CdLS is an increasingly diagnosed entity. While previous literature indicates airway obstruction as a common cause for sleep apnea in children with CdLS, our case suggests that clinicians should consider central causes of sleep apnea in these patients. Given the sub-clinical progression of sleep apnea in this case study, routine follow up PSGs should be considered. Further research is necessary to increase knowledge of the incidence and management of central sleep apnea in children with CdLS. Support (if any):