Case 2: Hypotonia and Poor Feeding in a Neonate

Presentation

A term 2,535-g female infant is born to a 26-year-old primigravida who is in a non-consanguineous relationship at 37+0 weeks of gestation via cesarean section for breech presentation. Pregnancy complications include nonsevere preeclampsia. Prenatal laboratories, course, and family history are unremarkable other than maternal tobacco use and prior cocaine and heroin use. The neonate’s Apgar scores are 4, 7, and 10 at 1, 5, and 10 minutes, respectively. Physical examination reveals an appropriate-for–gestational age female neonate with frontal bossing, micrognathia, sunken eyes, inverted nipples, mild respiratory distress, and severe hypotonia.

The neonate is admitted to the NICU for respiratory distress requiring continuous positive airway pressure. She continues to have desaturations and frequent emesis, prompting a sepsis evaluation with unremarkable findings. Head ultrasonography on day 3 after birth suggests mild cortical atrophy with extra-axial cerebrospinal fluid space expansion in the right parietal parasagittal space. Brain magnetic resonance imaging (MRI) demonstrates mild bilateral parietal and cerebellar atrophy, and repeat MRI on day 8 after birth shows hypoplasia of posterior parietal lobes, inferior vermis, and left transverse sinus as well as buphthalmos. Eye examination shows mature, hypoplastic optic discs.

Throughout the hospitalization, she continues to require nasal cannula for desaturations and bradycardic …