ABSTRACT
Prevalence of brain arteriovenous malformation ranges from 0.14% to 0.6% according to various estimates. A large number of these patients remain asymptomatic. The most common presentation is due to brain hemorrhage. A 14-year-old girl presented to the pediatrician with erratic behavior issues and hallucinations. She was diagnosed by the pediatrician and mental health facility as having schizophrenia and bipolar disorder. Once she was transferred to our children's hospital, evaluation by a pediatric neurologist, computed tomography scan, magnetic resonance imaging, and laboratory workup including lumbar puncture confirmed a clinically isolated syndrome and frontal lobe arteriovenous malformation. Frontal lobe lesions including arteriovenous malformation in the frontal lobe can cause psychological symptoms and behavioral issues. We also discuss the differential diagnosis of acute demyelinating syndromes.
ABSTRACT
Narcolepsy is characterized by excessive daytime sleepiness, with or without cataplexy. Associated features include sleep paralysis, hypnagogic or hypnopompic hallucinations, and disturbed nocturnal sleep. Narcolepsy is strongly associated with the HLA DQB1*0602 allele, and its symptoms stem from destruction of hypocretin-secreting neurons in the hypothalamus. Recently identified autoantibodies to Tribbles homologue 2 in some patients, as well as cases associated with H1N1 vaccination, support an autoimmune mechanism. There are many challenges in diagnosing and treating pediatric narcolepsy. Caution must also be used in interpreting polysomnography and multiple sleep latency test results in children. HLA testing is nonspecific, and no commercial test exists to measure cerebrospinal fluid hypocretin levels. Neuroimaging has not yet proven useful in primary narcolepsy. Treatment of sleepiness and cataplexy in children requires extrapolating from adult studies. Hopefully, further insights into the pathophysiology of narcolepsy will allow for new therapeutics to manage the symptoms and modify the course of the disease.
