The patient, a 24-hour-old infant girl weighing 3.2 kg at birth, was delivered by cesarean section at 39 weeks’ estimated gestational age. The lecithin/sphingomyelin ratio obtained before delivery was 3:1. The mother had a routine pregnancy, except for a fetal ultrasound obtained at 20 weeks that showed a mass in the lumbar area. The patient has two brothers, one of whom had a lumbar meningomyelocele. There is no family history of muscular dystrophy or anesthetic difficulties.
The patient has had no respiratory or feeding difficulties since delivery. Physical examination shows normal vital signs and skin turgor. A large membranous sac filled with fluid is located in the lumbar area. She has gross motor paralysis below the L3 level, and no evidence of sensation below the L3 level. The anus is patulous on physical examination.
The lower extremities and pelvis appear grossly normal. There is no sign of kyphosis or scoliosis on physical examination. The lungs are clear to auscultation, and the heart has a normal rate and rhythm with no audible murmurs or clicks. The airway appears normal on external examination.
The head circumference measures 39 centimeters, which is greater than the 95th percentile, and has remained stable since delivery.
Hematocrit is 49%, hemoglobin 16.8 gm/dl, electrolytes are all within normal limits. Chest x-ray shows a normal cardiac silhouette with clear lung fields. Urinalysis is normal with a specific gravity of 1.015.