A Neonate with an Abnormally Shaped Head

A female newborn has an abnormally shaped head (Figs 1 and 2).The infant’s respiratory distress resolved 2 hours after birth and she transitioned off CPAP. Dysmorphic features were noted on physical examination at 2 days of age and hence, further evaluation was undertaken.The infant was asymptomatic, breathing comfortably in room air. She was progressing with oral feedings, taking partial feedings by mouth with the remainder administered via the nasogastric tube. She did not have any apnea and bradycardia events. Her head shape was persistently noted to be abnormal, though initially thought to be in part secondary to oligohydramnios and molding from intrauterine positioning. She intermittently displayed the “setting sun” sign, but all other vital signs were within normal limits (specifically, no hypertension, bradycardia, or apnea noted). When the infant was 4 days old, skull radiographs were obtained in the anteroposterior and lateral views (Figs 3 and 4) and subsequent computed tomography (CT) with 3-dimensional (3D) reconstruction of the head was performed because of the abnormal head shape (Figs 5 and 6). Ophthalmologic examination did not reveal chorioretinitis or any other abnormalities.The infant described herein has complex craniosynostosis with bilateral lambdoid suture (Figs 3, 4, and 7) and partial sagittal suture involvement. Posterior plagiocephaly and compensatory enlargement of the metopic suture and anterior fontanelle were observed as well as a copper beaten appearance on skull radiography (Fig 8).After birth, she did not display any signs of increased intracranial pressure though this may occur in the future signifying the need for more immediate surgical intervention. Her ventricles were stable in size at discharge indicating that the copper beaten skull appearance was most likely related to normal brain growth. She was monitored for signs and symptoms of increased intracranial pressure. Plastic surgery was consulted, and reconstructive surgery (open procedure with cranial vault remodeling) was planned before age 12 months because of the multiple suture involvement. The infant’s mother was educated about careful holding with attention to the posterior parieto-occipital region because of severely thinned bones and a concern for injury with minimal force.The infant continued to progress with oral feedings, gaining weight appropriately without nasogastric tube supplementation. Repeat head ultrasonography 12 days after birth demonstrated mild ventriculomegaly. Daily head circumference measurements and frequent neurologic examinations were performed, results of which were within normal limits. Before discharge, a third head ultrasound scan confirmed stable mild ventriculomegaly. Nineteen days after admission, the infant was discharged from the hospital with follow-up appointments.Craniosynostosis is the early fusion of 1 or more cranial sutures and affects 1 in 2,000 to 2,500 infants worldwide. The 4 major sutures (sagittal, coronal, metopic, and lambdoid) along with minor sutures allow for the molding of the head to fit through the birth canal and permit continued postnatal growth of the brain. Because of the premature fusion of 1 or more sutures, the skull grows perpendicular to the affected suture as the brain expands and grows. In craniosynostosis, most often, the sagittal suture is affected (56%), followed by the coronal (25%), metopic (4%), and finally lambdoid (2%) sutures. Multiple sutures are fused in approximately 13% of cases. (1)(2) Though many cases of craniosynostosis are caused by genetic conditions, others may be nonsyndromic. It is hypothesized that maternal uterine anomalies such as bicornuate uterus or pregnancy with multiple fetuses can contribute to the development of craniosynostosis because of compression of the fetal skull. (3)Craniosynostosis is most often diagnosed on physical examination in conjunction with multiple radiographic studies. It can be mistaken for plagiocephaly (flattening of the occiput caused by positioning) if not thoroughly assessed. (4) Posterior plagiocephaly is more common than lambdoid craniosynostosis and, as a result, lambdoid craniosynostosis is sometimes overlooked. Skull radiography is generally an inexpensive first step in evaluation after a concern is noted. A normal suture is lucent, nonlinear, and serrated; when fused, it appears as a line, bony bridge, or is not visible. Secondary radiographic findings include a copper beaten skull appearance that can indicate a rise in intracranial pressure or reflect brain growth during periods of rapid development. (1)(4) The copper beaten appearance refers to markings on the inner surface of the skull with depressions corresponding to the gyri of the brain (thumb-printing); it is related to maldevelopment of the brain, putting pressure on the cranium. (1)(5) In cases of increased intracranial pressure, skull demineralization and erosion may also be present as well as splitting of the other sutures. Typically, the copper beaten appearance is present in the posterior cranium and is not diffuse when it is related to normal brain growth. (5) Other radiographic studies typically required in cases of craniosynostosis include 3-D reconstructed CT scans to guide the surgical correction of the misshaped skull.Although it is a relatively common congenital anomaly, craniosynostosis requires prompt diagnosis to determine the correct time frame for surgery and close monitoring for developmental delays. Infants should be monitored for signs of increased intracranial pressure including vomiting and irritability; papilledema; beaten copper appearance; and ventriculomegaly. (5) Neurodevelopmental delays are twice as likely to occur in infants with sagittal craniosynostosis as in infants without craniosynostosis. Most frequently, gross motor skills, receptive language, fine motor skills, cognitive function, and expressive communication are affected. (6) Early intervention and close postoperative developmental monitoring can assist with optimal neurodevelopmental outcomes.Positional plagiocephaly occurs because of limited head rotation, supine sleeping position, and decreased activity levels in the infant. In the case described here, the infant’s skull was abnormally shaped soon at birth and was not noted to occur over time. It also did not improve at all over the course of a few days as one would expect in the case of molding with overriding sutures. On assessment, the lambdoid sutures were immobile, which is inconsistent with overriding sutures.Congenital torticollis refers to positional plagiocephaly with 1 external ear close to the shoulder on the affected side with the face turned to the opposite side. This results in craniofacial asymmetry, which the infant in this case did not demonstrate. (7) In the case of Lückenschädel skull, the radiograph appears to have a more “honeycomb” appearance that tends to disappear with time and may not be evident at the time of birth. (8) It is typically associated with other neural tube defects such as spina bifida and meningomyelocele. (8)