Sleep Disorders: Student/Resident Case Report Poster - Sleep Disorders |

Novel Case of Narcolepsy and Multifactorial Genetic Disturbances FREE TO VIEW

Kawanjit Sekhon, MD; Faraz Jaffer, MD; Safal Shetty, MD; Sairam Parthasarathy, MD
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Department of Internal Medicine, Banner University Medical Center, Tucson, AZ

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):1290A. doi:10.1016/j.chest.2016.08.1404
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SESSION TITLE: Student/Resident Case Report Poster - Sleep Disorders

SESSION TYPE: Student/Resident Case Report Poster

PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM

INTRODUCTION: Narcolepsy, characterized by excessive daytime sleepiness (EDS) and dysregulation of Rapid Eye Movement (REM) sleep has two recognized types. Narcolepsy type I is due to extensive loss of hypocretin-1 producing neurons in the hypothalamus and presence of cataplexy. Narcolepsy Type II patients have normal hypocretin-1 levels and no cataplexy. The underlying mechanism for type II narcolepsy is not well understood. We present a novel case of narcolepsy in a patient with multiple genetic disorders.

CASE PRESENTATION: 21-year-old male, presented with history of diffuse myalgia, fatigue, elevated creatinine kinase. He was diagnosed with mitochondrial myopathy following a muscle biopsy. His family history was significant for his mother with a history of cognitive decline and myalgia, prompting a genetic work up, leading to a diagnosis of Weaver syndrome, complex I deficiency, and DNMT1 deficiency. He experienced EDS, sleep paralysis and hypnogogic hallucinations without cataplexy over a 6-month period. Overnight polysomnogram done for evaluation of EDS showed a Sleep efficiency of 72%, Sleep latency of 19.5 minutes, REM latency 131 minutes, apnea hypopnea index (AHI) 3.0. The multiple sleep latency testing (MSLT) showed a mean sleep latency of 7 minutes with Sleep Onset Rapid eye movement (SOREM) seen in 4 of 5 naps. A diagnosis of narcolepsy without cataplexy was established. Sleep logs were suggestive of delayed sleep phase syndrome. He was started on Modafinil with improvement in symptoms.

DISCUSSION: Weaver syndrome is an overgrowth syndrome characterized by pre- and postnatal overgrowth with distinctive craniofacial appearance and circadian clock disturbances due to mutation of EZH2 gene.2 DNMT1 deficiency is associated with narcolepsy, deafness, and dementia through neurodegenerative changes.3 Complex I deficiency is characterized primarily by involvement of the nervous system and skeletal muscle. Lesions in the basal ganglia and/or brainstem, EDS, myopathy have been described.3 It is likely that progression of neurodegenerative process with lesions in the wake promoting regions neurons in the brainstem may be involved in the pathogenesis of Narcolepsy.

CONCLUSIONS: A high degree of suspicion for Narcolepsy and circadian rhythm disorders should be maintained in a background of genetic disorders with neurodegenerative changes. Stimulant medications are used to treat daytime symptoms of excessive sleepiness associated with Narcolepsy. It is unknown if stimulant medications can worsen the myopathy in the light of metabolic mitochondrial disorder.

Reference #1: Etchegaray et al. The Polycomb Group Protein EZH2 Is Required for Mammalian Circadian Clock Function. J Biol Chem. 2006

Reference #2: Pedroso et al. A Novel de novo Exon 21 DNMT1 Mutation Causes Cerbellar Ataxia, Deeafness, and Narcolepsy in a Brazilian Patient. Sleep 2013

Reference #3: Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain. 2009

DISCLOSURE: The following authors have nothing to disclose: Kawanjit Sekhon, Faraz Jaffer, Safal Shetty, Sairam Parthasarathy

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