33 research outputs found

    Niemann-Pick Type C Disease

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    Intractable Epilepsy.

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    A 16-Year-Old Male With Frequent Nocturnal Events During Slow Wave Sleep on a Polysomnogram

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    A 16-year-old male was referred by the primary care physician (PCP) for a second opinion. An initial evaluation in another sleep center suggested a working diagnosis of night terrors for the last two years. The child would wake up frequently screaming for few minutes before going back to sleep with no recollection of these events later. A video during the polysomnography (PSG) showed the patient having one of his typical events. He was eventually diagnosed with Sleep-related Hypermotor Epilepsy (SHE) seizures. This case highlights the importance of differentiating parasomnia and seizures, particularly for the sleep medicine providers that incorporate providers from different academic backgrounds. We will discuss the clinical challenges to make the distinction for the referring providers and demonstrate the importance of video-PSG to establish the diagnosis

    Staring Spells in a Pediatric Patient

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    Vtesse VTS301 Study. Prospective, Randomized, Double-Blind, Sham-Controlled Trial of

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    The purpose of this research study is to determine if a drug called 2-hydroxypropyl- β-cyclodextrin (VTS-270) will keep your child with NPC1 from getting sicker

    A 10-Year-Old with Frequent, Disruptive, and Unexplained Night Awakenings

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    A 10-year-old female presented to the sleep clinic for a second opinion about her epilepsy diagnosis. She had been treated with antiepileptic medication but her events persisted. The child would wake up several times every night speaking nonsense words, appear confused to her family, and then go back to sleep. A video of the polysomnography (PSG) showed the patient having two of her typical events. The patient was eventually diagnosed with confusional arousal (CoA) secondary to obstructive sleep apnea (OSA). The nocturnal events resolved after her OSA was treated. This case highlights an atypical clinical presentation for a type of parasomnia like CoA that was misdiagnosed and treated for seizures. It will illustrate OSA and its mechanisms as a potential occasional treatable cause for CoA. It also demonstrates the importance of video- PSG in the work-up of CoA
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