This 1-year-old African American boy is being followed for developmental delays. His 35-year-old mother has no known health problems, and this was her third pregnancy. She had early spotting at 8 weeks’ gestation with later bed rest and medical therapy for threatened abortion. Premature delivery at 27 weeks was uncomplicated, yielding appropriate birth weight and Dubowitz scores for gestational age.
The baby was mechanically ventilated for 3 weeks, and required 60 days of nursery care. Early feeding with pumped breast milk and formula was complicated by tongue-thrusting, spitting, and constipation, despite several formula changes. GERD was diagnosed when the child was 3 months old. He gained weight slowly, with frequent head-tilting to one side after feeds. He was given palivizumab (Synagis) to prevent RSV and had no cardiac or pulmonary problems.
Motor milestones included rolling over front to back at 3 months, back to front at 5 months, and maintaining a sitting position at 9 months. He had increased muscle tone with persistence of grasp and tonic neck reflexes. Concerns about his facial appearance and delays prompted genetic referral that documented normal chromosome studies with no syndrome diagnosis.
Review of systems is normal except for intermittent constipation, irritability after feeds that was initially diagnosed as colic, and persistent posturing after eating with tilting of his head to the side.
The family history includes 2 healthy older siblings, both born prematurely. The parents are healthy, each with several healthy siblings and no family history of birth defects, mental disability, or early-onset cancers.
The height was in the 25th percentile for age, weight in the 5th percentile, and head size in the 25th percentile. The boy was very active, with exaggerated reaction to sound or touch. The facial appearance was somewhat unusual, with sparse hair, prominent and arched eyebrows, subcanthal folds, and generous lips; these features were very similar to those of the father when childhood photographs were inspected.
Results of cardiac, pulmonary, and abdominal exams were normal; there were no surface anomalies or disproportion of the extremities. The joints were tight with mild limitation of extension in the elbows and knees. Neurologic exam showed increased deep tendon reflexes with clonus in the lower extremities.
1. What diagnoses besides prematurity are likely in this child?
2. What preventive health care issues should be addressed?
Answer on the next page
REFERENCES:1. Cooley WC; Committee on Children With Disabilities. Providing a primary care medical home for children and youth with cerebral palsy. Pediatrics. 2004;114:1106-1113. http://aappolicy.aappublications.org/cgi/content/full/pediatrics;114/4/1106. Accessed July 2011. 2. Rubin IL, Crocker AC, eds. Developmental Disabilities: Delivery of Medical Care for Children and Adults. Philadelphia: Lea and Febiger; 1989. 3. Wilson GN, Cooley WC. Preventive Health Care for Children With Genetic Condition: Providing a Medical Home. 2nd ed. Cambridge, UK: Cambridge University Press; 2006. 4. de Ybarrondo L, Mazur JL. Sandifer's syndrome in a child with asthma and cerebral palsy. South Med J. 2000;93:1019-21. http://emedicine.medscape.com/article/931761-overview. Accessed July 2011. 5. Stevenson RD. Use of segmental measures to estimate stature in children with cerebral palsy. Arch Pediatr Adolesc Med. 1995;49:658-662. 6. United Cerebral Palsy Association Inc. (www.ucp.org); Ontario Federation for Cerebral Palsy (www.ofcp.on.ca); Scope-About Cerebral Palsy UK (www.scope.org.uk). Accessed July 2011.