Mom's concern leads to diagnosis and a happy ending
Her heart melted whenever she looked at her 4-month-old's sweet little face, and yet the mother had a nagging feeling that something was not quite right. She compared his features with those of her older toddler and saw the difference: the baby's eyebrows were uneven and the back of his head was noticeably flattened.
The mother consulted a physician who performed a thorough physical exam, seemed reassured by what he found, and advised a recheck in one month to follow the skull's development. Mom was uncomfortable with this plan for watchful waiting and sought another professional opinion. A second pediatrician ordered skull X-rays, which were inconclusive. Doctor No. 2 pursued the issue and referred the family to a neurosurgeon at the regional children's hospital.
During the specialist's visit, the baby had a CT scan that did reveal a serious but operable abnormality known as craniosynostosis. This condition involves the developing infant head and occurs when the plates of the skull fuse prematurely due to early closure of the joints, or sutures, between these skull bones. The infant subsequently underwent successful corrective skull surgery and grew to be a healthy, active boy.
Experts at the American Association of Neurological Surgeons note that a child's skull bones come together by about 2 years of age. If any of the six major skull bones fuse too early, potential brain growth is limited. Left untreated, craniosynostosis can lead to increased intracranial pressure, resulting in headaches, visual disturbances and developmental delay.
Neurosurgeons generally recommend that craniosynostosis repair be scheduled in patients between the ages of 3 to 8 months. Traditional skull surgery, and when appropriate the newer minimally invasive endoscopic approach, are performed to allow growing room for the developing infant brain as well as to correct cosmetic facial and skull defects.
In a review article in the journal American Family Physician, Drs. Haidar Kabbani and Talkad Raghuveer report that craniosynostosis occurs in about one in 2,000 births and is a bit more common in males. Early closure of the sagittal suture - the suture running from the front soft spot to the back of the skull - is responsible for about half of the cases. While 20 percent of children with craniosynostosis have recognized medical syndromes involving other organ systems, most cases of craniosynostosis are not syndromic and are of unknown cause.
A careful physical exam is the first step in the diagnosis of craniosynostosis. The journal authors note that the bones of the skull can normally overlap or override each other for the first three days of a full-term newborn's life and for up to three weeks in a premature baby. A diagnosis of craniosynostosis should be considered when ridging at the cranial sutures persists in an infant with abnormal head shape.
Plain skull X-rays can clinch the diagnosis, particularly when only one suture is involved, but CT scans are often needed to provide a clearer view of sutures and to assist in evaluation of the infant brain. Follow-up three-dimensional CT scans then allow specialists to map out planned surgical repair.
While a high index of suspicion is needed to detect cases of craniosynostosis and refer them on in a timely manner, not all unusually shaped infant heads are cause for alarm. Drs. Kabbani and Raghuveer find that deformational plagiocephaly, or positional flattening of the back or side of the skull, occurs in one in 300 live births, making this condition much more common that pathological craniosynostosis.
Treatment of deformational plagiocephaly includes repositioning the baby, offering tummy time, performing gentle neck exercises, and in more extreme cases, custom-fitting a skull-molding helmet.
• Dr. Helen Minciotti is a mother of five and a pediatrician with a practice in Schaumburg. She formerly chaired the Department of Pediatrics at Northwest Community Hospital in Arlington Heights.