Dados do Trabalho

Título

Refractory hypersomnolence in a patient with multiple autoimmune morbidities and psychiatric disorder

RESUMO

CASE REPORT: 35-year-old female presenting with excessive daytime sleepiness (EDS), insomnia, bruxism, snoring, fatigue, and fluctuating muscular weakness. She also complained of periods of hypersomnia that lasted for 3 to 7 days, without food compulsion, hypersexuality, or worsening of cognitive impairment. There was also worsening of muscular weakness in events of acute distress, but without complaints of sleep attacks, hallucinations, or sleep paralysis. She had the additional diagnosis of Mast Cell Activation Syndrome (MCAS), Ehlers-Danlos Syndrome subtype 3, chronic migraine, depression, Asperger syndrome, and a history of thyroidectomy followed by radioactive iodine therapy due to papillary carcinoma. She also referred to anasarca, drowsiness, and generalized muscle weakness in extremes of climate or acute distress and with consumption of histamine-rich foods. On physical examination, she had retrognathia and ogival palate, and there was also unilateral sustained palpebral ptosis. Muscular fatigability tests were positive for diplopia and led to discrete appendicular weakness. Polysomnography showed moderate obstructive sleep apnea (apnea-hypopnea index of 21 events per hour) and periodic limb movement syndrome (periodic limb movement of 49 per hour). Multiple latency sleep tests showed no sleep-onset REM period and average sleep latency of 19 minutes.
Electroneuromyography with single fiber was compatible with myasthenia gravis, and the autonomic study was suggestive of autonomic neuropathy of tiny fibers. Thoracic computerized tomography did not demonstrate thymoma. Laboratory workup showed iron deficiency and a positive dosage of anti-acetylcholine receptor antibody. Renal and thyroid function and dosage of vitamin B12 were normal. She sustained EDS (Epworth sleepiness scale of 12/24) after treatment with CPAP, intravenous iron supplementation, and use of lisdexamfetamine, venlafaxine, trazodone, escitalopram, aripiprazole, coenzyme Q10, levothyroxine, and zolpidem. In the following steps, we will look for the prevalence of the HLA-DQB1*0602 allele and hypocretin level in cerebrospinal fluid. FINAL COMMENTS: The differential diagnosis of EDS is complex and multifactorial. Proper workup is essential for a better clinical approach, although polytherapy is not always sufficient to entirely manage the symptoms.