A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis / 대한소아신경학회지

Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual disability. Reduced nitric oxide (NO) production contributes to infantile hypertrophic pyloric stenosis (IHPS) because NO plays an important role in smooth muscle relaxation. Here we describe a case of Menkes disease and IHPS in a 72-day-old male patient with severe persistent vomiting and convulsions with a novel ATP7A mutation.

Physiology of sleep / 소아과

Sleep is a vital, highly organized process regulated by complex systems of neuronal networks and neurotransmitters. Normal sleep comprises non-rapid eye movement (NREM) and REM periods that alternate through the night. Sleep usually begins in NREM and progresses through deeper NREM stages (2, 3, and 4 stages), but newborns enter REM sleep (active sleep) first before NREM (quiet sleep). A period of NREM and REM sleep cycle is approximately 90 minutes, but newborn have a shorter sleep cycle (50 minutes). As children mature, sleep changes as an adult pattern: shorter sleep duration, longer sleep cycles and less daytime sleep. REM sleep is approximately 50% of total sleep in newborn and dramatically decreases over the first 2 years into adulthood (20% to 25%). An initial predominant of slow wave sleep (stage 3 and 4) that peaks in early childhood, drops off abruptly after adolescence by 40% from preteen years, and then declines over the life span. The hypothalamus is recognized as a key area of brain involved in regulation of sleep and wakefulness. The basic function of sleep largely remains elusive, but it is clear that sleep plays an important role in the regulation of CNS and body physiologic processes. Understanding of the architecture of sleep and basic mechanisms that regulate sleep and wake cycle are essential to evaluate normal or abnormal development of sleep pattern changes with age. Reduction or disruption of sleep can have a significant impact on daytime functioning and development, including learning, growth, behavior, and emotional regulation.