Neurodevelopmental Follow-Up of a Child With Congenital Cytomegalovirus Infection

In this article, we report the case of a now 4-year-old child who was initially admitted to the neonatal intensive care unit on postnatal day 2 with apneic spells. Laboratory investigations revealed congenital cytomegalovirus (cCMV) infection. Following initial treatment, the infant was enrolled in multidisciplinary and comprehensive follow-up and developed cerebral palsy, infantile spasms, and neurosensory impairment. This case provides the perspective of this child’s family and outlines essential follow-up care for infants with cCMV.The female infant was born to a healthy 29-year-old gravida 3, para 1 woman who had no reported infections, fevers, or travel during the pregnancy. First trimester pregnancy screening was unremarkable. The anatomy ultrasonography scan at 20 weeks’ gestation revealed no abnormalities, and there were no other complications during the pregnancy. The woman’s group B Streptococcus status was negative, and she was immune to rubella and varicella. The infant was delivered via spontaneous vaginal delivery with an Apgar score of 9 and 9 at 1 and 5 minutes, respectively. She was active and alert and had good muscle tone at birth. Her head circumference was 31.5 cm (second percentile); however, no further investigation was done for this finding. Her birth weight was 3130 g (37th percentile) and her length was 51 cm (70th percentile). The infant was discharged home by 24 hours of age. She was brought to the emergency department on the second day after birth because her parents were concerned about choking episodes during feedings whereby the baby would stop breathing, her lips would turn blue, and she would resume breathing when stimulated. Four similar episodes had occurred, each lasting about 15 seconds. Her mother also described jerky movements involving the extremities and occasionally the whole body. These movements were random, nonrhythmic, and lasting up to 5 seconds; they were not correlated with the choking episodes. In between these events, the baby was reported to be well.In the emergency department, the infant was noted to have similar jerky episodes associated with apnea and desaturations. She was started on continuous positive airway pressure to support her respiration. The team obtained blood and cerebrospinal fluid cultures and started empirical ampicillin and cefotaxime at meningitic doses, as well as acyclovir. She was then transferred to our quaternary unit for further management. On admission to our neonatal intensive care unit, the infant was alert and active. She was noted to have significant microcephaly, with a head circumference of 31.5 cm (second percentile). Her cranial nerve examination was normal. She had normal axial and appendicular tone and moved all extremities appropriately against gravity, indicating adequate muscle strength. Deep tendon reflexes were (2+) throughout and primitive newborn reflexes were appropriately present. Plantar responses were upgoing with fanning of the toes.The team obtained a cranial ultrasonography that showed an underdeveloped, smooth cerebral contour with a paucity of sulcation, dilated lateral ventricles with colpocephaly, and disproportionate prominence of the occipital horns. Small subependymal cysts were located along the left caudothalamic groove. Multifocal hyperechoic foci appeared as intracerebral calcifications, predominantly in a periventricular distribution (Figure 1). Brain magnetic resonance imaging (MRI) revealed extensive malformation of cortical development characterized by polymicrogyria, periventricular heterotopia, and enlarged lateral ventricles. There was marked white matter edema within the occipital lobes with bilateral occipital cysts (Figure 2). These neuroimaging findings were highly suggestive of cCMV infection. As a result, blood and cerebrospinal fluid was obtained to assess for CMV.Continuous video-integrated electroencephalogram (EEG) monitoring was done for 48 hours, and no epileptiform activity was identified. Blood and cerebrospinal fluid cultures as a part of the initial sepsis evaluation were negative; however, both blood and cerebrospinal fluid polymerase chain reaction testing confirmed cCMV infection. The antibiotics were discontinued, and she was started on oral valganciclovir. She was fed by a nasogastric tube. After resolution of apneic episodes, she was discharged home on postnatal day 9 with close follow-up planned with neonatal neurology, neurodevelopmental follow-up, infectious diseases, and ophthalmology.The infant was cared for at home by her parents, who demonstrated active engagement in her care and development. She underwent her initial follow-up, a routine check-in conducted via telephone, at 6 weeks of age. The parents did not have any concerns at that time about her growth or development. Further follow-up plan and anticipatory guidance was provided, including recommendations to support early motor and language development, including supervised tummy time, encouraging bilateral hand use and head turning, fostering a language-rich environment, and avoiding the use of jolly jumpers. Her first in-person evaluation by the neonatal neurology service occurred at 8 weeks of age. Clinical examination revealed marked appendicular hypertonia in all 4 limbs, axial hypotonia, and diminished visual tracking. Electroencephalography showed no evidence of clinical seizures. She was referred for early intervention services.At her 4-month neurodevelopmental follow-up clinic visit, she presented with severe microcephaly with a head circumference of 35.8 cm (