Case history
Case history #1
A 2-week-old boy is evaluated in the neonatal intensive care unit because he had low tone at birth, with a weak cry and decreased movement. He is noted to have bilateral cryptorchidism, hypoplastic scrotal sac, and uncoordinated suck and swallow, which means he is unable to breast-feed and requires a nasogastric tube for feeding.
Case history #2
A 2-year-old girl presents to her primary care physician because she has gained weight rapidly over the past 3 months without any change in diet or appetite. From her history she was born at full term via cesarean section because of breech presentation. During pregnancy, her mother had polyhydramnios and noted decreased fetal movements after 30 weeks' gestation. As a baby, she had low tone and poor suckling ability, and required admission to the neonatal intensive care unit for monitoring and nasogastric feeding, with subsequent fortification of formula feeding in order to maintain normal weight gain. At 6-8 months of age she began to display hunger cues and feed regularly by mouth. Her growth velocity decreased, but her weight gain continued to be appropriate for age. However, at 21 months of age, her weight gain accelerated and increased from the 10th to the 85th percentile on her growth chart in 3 months. Her parents have noticed that she has delayed speech and acquisition of both gross and fine motor skills. On examination, she is overweight, with low muscle mass and obvious global developmental delay. She also has mildly small hands and feet for her age, lumbar lordosis, and hypoplastic labia and clitoris.
Other presentations
Although most cases of Prader-Willi syndrome will be diagnosed in infancy or early childhood, patients may present in adolescence or early adulthood. Features in adolescence or adulthood include new-onset type 2 diabetes, constant hunger and food-seeking behaviors, short stature, obesity, learning difficulties, speech articulation problems, and autistic spectrum behaviors (which include need for schedule, and restrictive or repetitive behaviors).[1][2][3]
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