Delayed Diagnosis of Multisuture Craniosynostosis; A Literature Review

Abstract

OBJECTIVES

Our department recently had a 5-year-old patient who presented to the Augusta University Emergency Department for vision concerns, only to realize the etiology was a diagnosis of multisuture craniosynostosis. Such delayed diagnosis is a rare occurrence and only minimally cited throughout the literature. This study seeks to review other studies which also document a delayed diagnosis of multi-suture craniosynostosis, and review challenges and clinical manifestations that may be heightened with such a delayed diagnosis and intervention.

METHODS

The author will perform a search of literature documenting such delayed cases and clinical findings or changes in clinical management and recommendations that resulted from diagnosis at an advanced age.

RESULTS

The consequences of delayed recognition and management of craniosynostosis include optic nerve atrophy and irreversible changes that could result in blindness or further neurologic decline secondary to prolonged increased intracranial pressure. The literature generally supports operations performed as soon as possible assuming the safety of the infant to undergo a surgical procedure. In unoperated patients of an advanced age, such as the one that presented to our emergency department, there are many more compounding factors to the indicated surgical treatment including the development of the frontal sinus, thickness of bone, and ability of soft tissue coverage over a large expansion giving much more chance of a postoperative dehiscence. These patients may necessitate staged surgeries to fully address the extent of their clinical presentation.

CONCLUSIONS

Craniosynostosis, particularly multisuture synostosis, is a problem that should be recognized, diagnosed, and treated early in childhood to avoid sequelae associated with craniocerebral disproportion. By age 5-7 (the age of presentation of our patient), the cranial vault and orbits normally attain 85-95% of their adult size, and significant gaps in bony reconstruction would not be expected to completely fill in postoperatively.

IMPLICATIONS

The timing of treatment for craniosynostosis in a child is important. When cranial and orbital reconstruction is indicated, it is ideally completed between 8-14 months of age depending on multiple factors. Unless a child shows signs of increased intracranial pressure before this timeline, later reconstruction at 12-14 months of age allows some additional growth to occur prior to surgical intervention potentially allowing for more definitive reconstruction and decreased need for repeat procedures later in childhood. However, the healing potential of patients 6-8 months of age is a significant benefit to earlier reconstruction. As providers who may see children at young ages, we need to be trained to properly assess pediatric patients and know how to identify certain abnormalities that may warrant further investigation by a specialist.