DOI: 10.1373/clinchem.2014.228486

Summary:

A 5-month-old boy was referred to the genetics and neurology services for evaluation of developmental delay, “albinism,” and possible seizures. He was born to a 19-year-old G1P1 (one gestation, one delivery) mother at 36 weeks of gestation via spontaneous vaginal delivery. His birth weight was 2.6 kg (5.7 lbs), and length was 49.5 cm (19.5 in).