Index of Suspicion in the Nursery

Abstract

A 37-week female infant is born via cesarean delivery due to preeclampsia to a 26-year-old G1 mother. All maternal serologic test results are within normal limits. The pregnancy was complicated by maternal primary generalized epilepsy treated with valproic acid (VPA) and supplemented with folic acid, mild thrombocytopenia attributed to VPA therapy, and increased maternal serum α-fetoprotein level at 17 weeks. Antenatal ultrasound reveals a lumbosacral myelomeningocele and Chiari II malformation. After birth, the infant is noted to have a midline sacral defect and is positioned side-lying. She has mild respiratory distress that improves with continuous positive airway pressure. Apgar scores are 7 and 8 at 1 and 5 minutes, respectively. She is transitioned to a high-humidity nasal cannula and transported to the NICU for further management. On physical examination, the patient’s birthweight is 2.79 kg (25th percentile), length is 51 cm (90th percentile), and head circumference is 29.5 cm (<3rd percentile). She has close-set eyes, a prominent glabella, and epicanthal folds. Her ears are normal in size and position. Her anterior fontanelle is slightly full, with sagittal sutures splayed 1 cm. Her palate is intact, with gag and suck present. Her heart has a regular rate and rhythm with no murmur appreciated. Pulses and perfusion are normal, and breath sounds are clear with moderate aeration. Her abdomen is soft, nontender, and nondistended, with no hepatosplenomegaly. She has spontaneous movement bilaterally at her hips, knees, and ankles. Her spinal defect is located over the lumbosacral area and is 2 cm × 1 cm, with moist reddish-purplish tissue. A 1-cm rim of hemangiomatous tissue is present at the superior and lateral aspects of the lesion. The patient has normal Tanner 1 female genitalia. Anus is patent with anal wink reflex present. She has long thumbs bilaterally with low-set, inverted, and widely spaced …