Craniosynostosis
What is Craniosynostosis?
Craniosynostosis is a congenital condition in which the sutures (fibrous joints) between the bones of an infant's skull close prematurely or abnormally, before the brain has finished growing. This abnormal fusion of the sutures can lead to distinct changes in the shape of the skull and may affect the growth and development of the underlying brain. The condition can result in various cosmetic and functional issues.
What Might Cause Craniosynostosis in a Child?
The exact cause of craniosynostosis is not always clear, but it is thought to result from a combination of genetic and environmental factors. Here are some factors that may contribute to the development of craniosynostosis:
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Genetic Factors: In some cases, craniosynostosis is associated with genetic mutations or syndromes. Mutations in certain genes have been linked to an increased risk of craniosynostosis. Additionally, some genetic syndromes, such as Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome, are known to cause craniosynostosis as part of their features.
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Family History: A family history of craniosynostosis or other skull abnormalities may increase the risk of an infant developing the condition.
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Environmental Factors: Some environmental factors, such as exposure to certain medications, substances, or toxins during pregnancy, have been suggested as potential risk factors for craniosynostosis. However, the specific associations and mechanisms are not fully understood.
It's important to note that craniosynostosis can occur sporadically without any known genetic or environmental factors. In many cases, the exact cause remains unknown. The condition is typically diagnosed shortly after birth or during infancy based on physical examination and imaging studies.
What Symptoms Might Craniosynostosis Cause in Children?
Craniosynostosis can lead to various symptoms and physical characteristics, which vary depending on the type of craniosynostosis and which sutures are affected. The symptoms can range from mild to severe. Here are some common symptoms and signs associated with craniosynostosis:
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Abnormal Skull Shape: One of the most noticeable signs of craniosynostosis is an abnormal shape of the baby's head. The shape depends on which sutures are prematurely fused. Common skull shapes associated with different types of craniosynostosis include:
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Scaphocephaly: Long, narrow head shape (premature closure of the sagittal suture).
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Brachycephaly: Short, wide head shape (premature closure of the coronal sutures).
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Trigonocephaly: Triangular-shaped forehead (premature closure of the metopic suture).
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Lambdoid synostosis: Flattening on one side of the back of the head (premature closure of the lambdoid sutures).
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Asymmetry: The baby's face may appear asymmetrical due to the skull's abnormal growth pattern.
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Fontanelles: Fontanelles (soft spots) on a baby's head can provide clues to craniosynostosis. In some cases, the affected sutures may close prematurely, resulting in the fontanelles feeling firm or closing earlier than expected.
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Raised Intracranial Pressure (ICP): As the brain continues to grow within the prematurely fused skull, it can lead to increased intracranial pressure. Symptoms of increased ICP can include: Headaches, Vomiting, Irritability, Sleepiness, Bulging fontanelles, and/or Vision problems
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Developmental Delays: In severe cases, where increased ICP affects brain development, children may experience developmental delays, cognitive impairments, or learning difficulties.
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Facial Features: Depending on the type of craniosynostosis, there may be associated facial changes, such as a prominent forehead, midface abnormalities, Hypo/hypertelorism.
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Breathing Difficulties: In cases where the skull shape affects the airway, babies may experience breathing difficulties.
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Feeding Issues: Babies with craniosynostosis may have difficulty feeding due to an altered jaw structure or positioning, and/or early elevated intracranial hypertension.
What Treatments are Available for Craniosynostosis in Children?
Once your child’s has been diagnosed with craniosynostosis, I (as a pediatric neurosurgeon in New York) will work with you, your child, and other medical professionals (e.g., plastic surgeons and pediatricians) at Children's Hospital at Montefiore (CHAM) to formulate acustomized treatment strategy tailored to your child’s needs. Timing of this customized treatment is an important consideration because early intervention can ensure the maximum number of available interventions, help ensure optimal outcomes and minimize potential complications. This customized treatment may utilize any one or a combination of the following interventions:
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Surgery: Surgical correction is typically recommended for infants diagnosed with craniosynostosis. The specific surgical technique used depends on the type of craniosynostosis and the degree of skull deformity. Surgical options may include:
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Minimally Invasive Endoscopic Surgery: In certain cases, an endoscope (a small camera) is used to access and reshape the skull bones through smaller incisions, reducing the need for extensive surgery. This approach is offered in infants younger ger than six months.
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Craniectomy and Reconstruction: Involves removing the prematurely fused suture and reshaping the skull bones. The surgeon may use the removed bone to fill in areas where the skull needs to be expanded.
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Cranial Vault Remodeling: A more extensive surgery that involves reshaping multiple skull bones to correct the abnormal skull shape. This is often used for complex cases of craniosynostosis.
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Shunt Placement: If increased intracranial pressure (ICP) is a concern due to the abnormal skull shape, a ventriculoperitoneal (VP) shunt may be placed. This surgical procedure involves inserting a tube to drain excess cerebrospinal fluid from the brain to another part of the body where it can be absorbed.
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Postoperative Care: After surgery, close monitoring and follow-up care are essential to ensure proper healing and development. The child's medical team will provide guidance on wound care, pain management, and any necessary interventions.
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Physical Therapy and Rehabilitation: Rehabilitation and physical therapy may be recommended to address any residual functional issues and promote optimal development.
