07-12-2015, 02:50 PM
A 3-day-old neonate is seen in the hospital because of severe weakness since birth requiring mechanical ventilation. She was born at term via uncomplicated vaginal delivery to a 26-year-old primigravid woman, who has mild mental retardation, and was noted to have contractures of multiple joints at birth. Pregnancy was complicated by poor fetal motility in the third trimester. Prenatal ultrasonography demonstrated polyhydramnios. Apgar scores were 4 and 6 at 1 and 5 minutes, respectively. Family history is remarkable for diabetes mellitus in several maternal relatives. The neonate's mother has a long, drawn face with a slack jaw. She has difficulty releasing her grip after shaking hands during the introduction. The neonate's length, weight, and head circumference are at the 25th percentile. Vital signs are temperature 36.1°C (97.0°F), pulse 130/min, respirations 32/min, and blood pressure 65/30 mm Hg. She is awake and has severe weakness of her face and extremities. Flexion deformities and clubfeet are present bilaterally. Deep tendon reflexes are difficult to elicit. Which of the following is the most likely initial working diagnosis?
A) Cerebral palsy
B) Congenital myotonic dystrophy
C) Hydranencephaly
D) Transient neonatal myasthenia gravis
E) Werdnig-Hoffmann spinal muscular atrophy
A) Cerebral palsy
B) Congenital myotonic dystrophy
C) Hydranencephaly
D) Transient neonatal myasthenia gravis
E) Werdnig-Hoffmann spinal muscular atrophy