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Toddler With Microcephaly, Growth Delay, and Subtle Facial Changes: What Diagnosis Besides Strabismus and Developmental Delay?

Toddler With Microcephaly, Growth Delay, and Subtle Facial Changes: What Diagnosis Besides Strabismus and Developmental Delay?

A 2-year-old girl has been followed for developmental delays and slow weight gain by her pediatrician and early childhood intervention therapists. She was the product of the first pregnancy of a single mother, age 17, who had run away from home and who had avoided early prenatal care.

Ultrasonography at a later gestational stage showed a small head size, and the uncomplicated vaginal delivery yielded a normal-appearing infant with good Apgar scores. Urine drug screens from the mother and infant were negative. The infant had difficulty breastfeeding but fed well on formula. Slow weight gain was noted despite involvement of the maternal grandmother with care; the grandmother thought the infant was irritable and less responsive than her daughter and 5 other children had been.

Weight gain improved somewhat with strategies and medication for GE reflux but remained in the 3rd percentile relative to a length in the 25th percentile. At age 8 months, left esotropia was noted; this was treated with patching and glasses. Motor milestones included sitting at age 8 months and walking at 16 months. At 2 years, the child is somewhat clumsy with a wide gait. She says 2 to 3 words consistently without phrases, and is less responsive to commands than her grandmother thinks appropriate. She and the mother feel that the child’s behavior is hyperactive and impulsive.

The family history is unremarkable except for possible diagnosis of bipolar disorder in the mother and the maternal grandfather; the father’s history is unknown.

Review of systems is normal, except that the child has difficulty going to sleep and has decreased pain sensitivity.

Her height is at the 25th percentile for age, weight at the 3rd percentile, and head size below the 3rd percentile.

She is a quiet child who appears well-nourished, with normal subcutaneous tissue and good skin turgor. The facial appearance (Figure 1) appears normal except for a broad nasal root. Cardiac, pulmonary, and abdominal exams were unremarkable. Her palms showed a single crease bilaterally with inward curving of the fifth fingers (Figure 2). Neurologic exam revealed an irritable child with mild generalized hypotonia.


Figure 1
 
Figure 2

1. What diagnosis besides strabismus and developmental delay should be considered in this child?

2. Do you agree that the facial appearance in Figure 1 is normal, and if not, what changes do you see?

3. What laboratory tests might be considered?

4. Given the likely diagnosis, what preventive health care issues should be addressed?

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