Metopic Craniosynostosis (Trigonocephaly): Symptoms, Causes, Treatment

What are the symptoms of metopic craniosynostosis?

Metopic craniosynostosis is a type of craniosynostosis that occurs when the metopic suture, which runs down the middle of the forehead, closes too early or does not close at all. This can cause a range of symptoms, including:

1. Head shape abnormalities: The head may appear elongated or triangular, with a prominent ridge running down the center of the forehead.
2. Bulging forehead: The forehead may be bulging or swollen, particularly in the middle.
3. Narrowing of the eye openings: The eyes may be more narrow or almond-shaped due to the pressure on the orbital bones.
4. Displacement of the eyes: The eyes may be displaced outward or downward due to the abnormal bone growth.
5. Swelling or asymmetry: The face may be swollen or asymmetrical, with one side appearing larger than the other.
6. Difficulty breathing: In severe cases, the skull shape can cause difficulty breathing due to the narrowness of the nasal passages.
7. Eye problems: Eye problems such as strabismus (crossed eyes), amblyopia (lazy eye), and vision loss can occur due to the pressure on the orbital bones.
8. Headscrews or binding: Some children with metopic craniosynostosis may experience headaches, stiffness, or tenderness in the head, which can be caused by the pressure on the brain.
9. Cognitive and developmental delays: In some cases, metopic craniosynostosis can be associated with cognitive and developmental delays.

It’s important to note that not all children with metopic craniosynostosis will exhibit all of these symptoms, and some may have only mild symptoms that are not immediately noticeable. If you suspect that your child has metopic craniosynostosis, it’s essential to consult with a healthcare provider for a proper evaluation and diagnosis.

What are the causes of metopic craniosynostosis?

Metopic craniosynostosis is a type of craniosynostosis that occurs when the metopic suture, which runs down the middle of the forehead, closes too early or does not close at all. The exact causes of metopic craniosynostosis are not fully understood, but it is thought to be caused by a combination of genetic and environmental factors. Some of the possible causes of metopic craniosynostosis include:

1. Genetic factors: Metopic craniosynostosis can be inherited in an autosomal dominant pattern, which means that a single copy of the mutated gene is enough to cause the condition.
2. Twins and multiple births: Children born as twins or triplets are at a higher risk of developing metopic craniosynostosis.
3. Environmental factors: Exposure to certain chemicals or toxins during pregnancy may increase the risk of metopic craniosynostosis.
4. Fetal development: Abnormalities in fetal development, such as incorrect fusion of the skull bones, may also contribute to the development of metopic craniosynostosis.
5. Other syndromes: Metopic craniosynostosis can be associated with other syndromes, such as Saethre-Chotzen syndrome, de Lange syndrome, and Achondroplasia.
6. Family history: A family history of craniosynostosis or other developmental abnormalities may increase the risk of metopic craniosynostosis.
7. Maternal age: Advanced maternal age has been linked to an increased risk of metopic craniosynostosis.
8. Prenatal exposures: Prenatal exposures to certain medications or substances, such as valproic acid, have been linked to an increased risk of metopic craniosynostosis.

It’s important to note that many cases of metopic craniosynostosis occur sporadically, meaning that they are not inherited and there is no known family history of the condition.

How is the diagnosis of metopic craniosynostosis made?

The diagnosis of metopic craniosynostosis is typically made through a combination of physical examination, medical history, and imaging studies. Here are the steps involved in making a diagnosis of metopic craniosynostosis:

1. Physical examination: A thorough physical examination is performed to assess the shape and size of the head, face, and skull.
2. Medical history: A detailed medical history is taken to identify any relevant family history of craniosynostosis or other developmental disorders.
3. Imaging studies: Imaging studies such as:
   • Computed Tomography (CT) scan: A CT scan is used to visualize the skull and facial bones in detail.
   • Magnetic Resonance Imaging (MRI) scan: An MRI scan is used to evaluate the brain and surrounding soft tissues.
   • Ultrasound: Ultrasound may be used to evaluate the fetal skull during pregnancy.
4. Cranial index measurement: The cranial index is measured to assess the shape and size of the skull.
5. Sutural calcification: The sutures (joints) between the skull bones are evaluated for calcification, which can indicate premature closure.
6. Radiographic evaluation: Radiographs (X-rays) may be used to evaluate the skull and facial bones in detail.
7. Genetic evaluation: In some cases, genetic testing may be performed to identify any underlying genetic mutations that may be contributing to the condition.

The diagnosis of metopic craniosynostosis is typically made by a multidisciplinary team of healthcare professionals, including:

1. Neurosurgeons
2. Plastic surgeons
3. Orthodontists
4. Geneticists
5. Radiologists

The diagnosis of metopic craniosynostosis is often made in infancy or early childhood, but it can also be diagnosed prenatally through ultrasound examination during pregnancy.

What is the treatment for metopic craniosynostosis?

The treatment for metopic craniosynostosis typically involves a combination of surgical and non-surgical interventions. The goal of treatment is to improve the appearance and function of the skull, as well as alleviate any associated symptoms such as increased intracranial pressure.

Surgical treatment:

1. Craniectomy: A craniectomy is a surgical procedure that involves removing a portion of the skull to relieve pressure and improve the shape of the head.
2. Cranioplasty: A cranioplasty is a surgical procedure that involves reshaping and reconstructing the skull to improve its appearance and function.
3. Orbital reconstruction: In cases where the eyes are displaced or narrowed, orbital reconstruction surgery may be performed to restore proper eye alignment and function.

Non-surgical treatment:

1. Orthotics: Orthotics, such as a cranial helmet, may be prescribed to help reshape the skull and improve its appearance.
2. Physical therapy: Physical therapy may be recommended to help improve range of motion and strength in the neck and shoulders.
3. Speech therapy: Speech therapy may be recommended to address any speech or language delays.
4. Rehabilitation: Rehabilitation therapy may be recommended to help children with metopic craniosynostosis develop normal cognitive and motor skills.

Timing of treatment:

1. Infancy: Surgery is typically performed during infancy, usually between 6-12 months of age.
2. Early childhood: Some children may require multiple surgeries during early childhood to achieve optimal results.
3. Adolescence: Surgical correction may also be necessary during adolescence to address any residual issues.

Key considerations:

1. Timing is critical: Early diagnosis and intervention are crucial for optimal outcomes.
2. Multidisciplinary approach: A team of specialists, including neurosurgeons, plastic surgeons, orthodontists, and rehabilitation therapists, should be involved in the treatment plan.
3. Individualized approach: Each child’s treatment plan should be tailored to their specific needs and goals.

It’s essential to consult with a healthcare provider or a multidisciplinary team of specialists to determine the best course of treatment for your child with metopic craniosynostosis.