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• W2761444385 abstract "C A S E R E P O RT S pii: jc-00038-15 http://dx.doi.org/10.5664/jcsm.5028 Hypocretin Defi ciency Associated with Narcolepsy Type 1 and Central Hypoventilation Syndrome in Neurosarcoidosis of the Hypothalamus Mary Catherine Mayo, MD 1 ; Jane C. Deng, MD, MS 2 ; Jeffrey Albores, MD 2 ; Michelle Zeidler, MD, MS 2 ; Ronald M. Harper, PhD 3 ; Alon Y. Avidan, MD, MPH 1 Department of Neurology, 2 Division of Pulmonary and Critical Care Medicine, and 3 Department of Neurobiology, David Geffen School of Medicine at UCLA, Los Angeles, CA We report a case of a 53-year-old man presenting with depressed alertness and severe excessive sleepiness in the setting of neurosarcoidosis. Neuroimaging demonstrated hypothalamic destruction due to sarcoidosis with a CSF hypocretin level of 0 pg/mL. The patient also experienced respiratory depression that presumably resulted from hypocretin-mediated hypothalamic dysfunction as a result of extensive diencephalic injury. This is a novel case, demonstrating both hypocretin defi ciency syndrome, as well as respiratory dysfunction from destruction of hypocretin neurons and extensive destruction of key diencephalic structures secondary to the underlying neurosarcoidosis. Keywords: hypocretin, orexin, hypothalamus, neurosarcoid, narcolepsy Citation: May MC, Deng JC, Albores J, Zeidler M, Harper RM, Avidan AY. Hypocretin defi ciency associated with narcolepsy type 1 and central hypoventilation syndrome in neurosarcoidosis of the hypothalamus. J Clin Sleep Med 2015;11(9):1063–1065. H uman narcolepsy is currently considered to refl ect dys- function of the hypocretin system. The vast majority of patients with narcolepsy and cataplexy have low or undetect- able levels of hypocretin-1 in the cerebrospinal fl uid (CSF). Abnormally low hypocretin levels have also been described in cases of secondary narcolepsy due to hypothalamic damage from a variety of CNS causes, including neurosarcoidosis. 1–3 In this case report, we present a patient with profound hy- persomnolence in the setting of neurosarcoidosis of the dien- cephalon, and respiratory failure secondary to central alveolar hypoventilation. REPORT OF CASE A previously healthy 53-year-old-man presented with alterations in alertness and hypothalamic lesion noted on MRI. Prior to onset of symptoms, he had unexplained, un- intentional weight loss, severe and pathological excessive sleepiness, subjective fevers, and night sweats. Diagnosis of neurosarcoidosis was established by hypothalamic biopsy demonstrating non-caseating granulomas and exclusion of other infectious diseases. No other organ involvement was noted on whole-body positron emission topography (PET) scan, computerized tomography of the chest, or 2D echocar- diogram. Chest radiograph was unremarkable with normal lung volumes. The patient underwent treatment for sarcoid- osis. Dream enactment, snoring, apneic spells, cataplexy, hal- lucinatory episodes and sleep paralysis were absent, but sleep fragmentation was present. Physical examination revealed a lethargic, thin man who awakened intermittently to verbal stimuli, but held a very short attention span of approximately 5-to-10 seconds, lapsing back to sleep. During the course of hospitalization, he developed acute hypercapnic respiratory failure of unclear origin. RESULTS Laboratory Studies Lumbar puncture demonstrated a CSF hypocretin level of 0 pg/mL. The CSF was clear and colorless with 2 RBC and 3 WBC, without evidence for demyelination. CSF was negative for the following: coccidiomycosis, cryptococcus, JC virus, toxoplasmosis, VDRL, varicella PCR, HSV1/2 PCR, myco- bacterial PCR, acid fast stain and culture, bacterial culture, viral culture, and fungal culture. HLA DQB1*0602 was negative. Blood gas showed respiratory acidosis with a pH of 7.29, PaCO 2 = 91 mm Hg, PaO 2 = 50 mm Hg, HCO3 = 42.6 mmol/L. Subsequent diaphragmatic ultrasound sniff test de- picted normal bilateral diaphragmatic movement with res- piration. Pulmonary function tests were deferred due to the patient’s diminished mental status. Computerized tomogra- phy of the chest before and during his acute respiratory fail- ure depicted only bibasilar atelectasis, stable micronodules without evidence of lesions, or masses along the course of the phrenic nerve. There was no evidence of infi ltration of the diaphragm with sarcoid. The patient did not have evi- dence of lymphadenopathy, pulmonary fi brosis, or disease along the bronchovascular bundle. Phrenic EMGs depicted normal bilateral phrenic nerve compound muscle action po- tential (CMAPs). Journal of Clinical Sleep Medicine, Vol. 11, No. 9, 2015" @default.
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• W2761444385 date "2016-01-01" @default.
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• W2761444385 title "Hypocretin deficiency associated with narcolepsy type 1 and central hypoventilation syndrome in neurosarcoidosis of the hypothalamus (vol 11, pg 1063, 2015)" @default.
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