Challenging Case: Developmental Delays and Regressions

CASE 1 Three-month-old Juanita was being evaluated by her pediatrician during a health supervision visit when bilateral lower extremity hypertonicity is noted for the first time. Tone appears to be mildly to moderately and symmetrically increased in her hip adductors and at the ankles. Three beat ankle clonus bilaterally, intact sensation to light touch, and normal spontaneous movements of the legs are recorded. Deep tendon reflexes at both knees and ankles are 21. She bears weight on both legs when held upright. Upper extremity tone, strength, and reflexes are normal. Juanita’s full-term gestation, labor, and delivery (vertex) were uncomplicated. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. Neurological examinations at birth and at 2 weeks of age were normal.