A 5-Month-Old Boy with Delay in Growth and Development and Decreased Muscle Tone

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). He had a traumatic delivery and developed left subdural hemorrhage. He was in the neonatal intensive care unit for approximately 3 weeks (his being there was secondary to postnatal respiratory distress and pneumonia), but passed the newborn hearing and extended metabolic screens. During the first months of life, he developed an umbilical hernia and exhibited feeding difficulties. At 4 months of age, he was admitted for evaluation of “spells.” His electroencephalogram was unremarkable. Echocardiography showed normal anatomy and function and a small patent foramen ovale. He had 2 brain MRIs, 1 in the first month, which showed left subdural hemorrhage, and another at 4 months, which showed subarachnoid widening. Ophthalmology evaluated him and ruled out ocular albinism.His review of systems was significant for abnormal muscle tone, fair skin color, loud breathing, constipation, and gastroesophageal reflux. Family history was unremarkable other than that his mother required speech therapy as a child. His two paternal half siblings and parents were healthy. On physical examination at 5 months of age, his length and weight were below the first percentile, and his occipitofrontal circumference was at the 66th percentile (relative macrocephaly). He was alert and interactive and showed no signs of acute distress. He had a long face with bitemporal narrowing, almond-shaped eyes, and slightly flat nasal bridge. Neurological examination demonstrated truncal hypotonia and increased muscle tone in the lower extremities. His developmental assessment at 5 months of age showed that he was able to control his …