Abstract

12-month-old black female, born at 39 weeks gestation, was seen in her primary care physician’s office for a routine examina tion. The mother’s chief concerns at that time were constipation beginning at age 4 months, delayed speech development, and poor weight gain. Prenatal history was remarkable for intrauterine growth retardation diagnosed at 7 months gestation via ultrasound. Her birth weight was 2.67 kg (10%), length was 49.53 cm (25% to 50%) and head circumference was 34.2 cm (25%). The newborn screen was negative. She was diagnosed with gastroesophageal reflux at age 5 weeks and was treated with ranitidine for 5 months. Her growth chart parameters are consistent with failure to thrive beginning at 9 months of age. Family history was negative for food allergies, cystic fibrosis, inflammatory bowel or autoimmune disease, and congenital heart disease. Maternal height is 5 feet, 3 inches and paternal height is 5 feet, 8 inches. A maternal cousin has sickle cell disease. The child lives at home with her mother, the mother’s fiance, and a female friend. The mother was breast-feeding on demand every 1 to 2 hours. The child’s diet was supplemented with table food, including pasta, mashed potatoes, french fries, potato chips, fast food, and red meat. The mother acknowledged no regular feeding schedule and denied concern regarding food scarcity in the home. Developmental history was significant for sitting unsupported at age 6 months and pulling to a stand with minimal cruising, but she did not walk independently and had a spoken vocabulary of only two to three words at the time of the initial visit. On physical examination, the infant was small but well-appearing, with a high-pitched cry when examined. Weight was 7.19 kg (<3%), length was 68.5 cm (3%), and head circumference was 42.5 cm (2%). Vital signs were within normal limits for age. Pupilary exam had red reflexes bilaterally. Ears were in normal position. The cardiac exam revealed regular rate and rhythm with no murmur. The patient’s abdomen was soft, nondistended, and without hepatosplenomegaly. The genitourinary exam revealed normal female genitalia with sexual maturity rating 1. The anus was patent without tags or fissures. Musculoskeletal exam showed normal muscle bulk, strength and tone, and range of motion. Gait with cruising, cranial nerves, sensation, and deep tendon reflexes were normal.

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