Summary about Disease
Turricephaly, also known as tower skull, is a type of craniosynostosis characterized by a cone-shaped head caused by the premature fusion of the coronal and lambdoid sutures. This premature fusion restricts normal skull growth, forcing the skull to grow upwards, resulting in a tall, pointed appearance.
Symptoms
Cone-shaped head (tower skull)
Increased intracranial pressure
Headaches
Vision problems (blurred vision, double vision)
Developmental delays
Cognitive impairment
Breathing difficulties
Sleep apnea
Causes
Genetic mutations: Several genes have been linked to craniosynostosis, including FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1.
Syndromes: Turricephaly can be associated with genetic syndromes such as Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Muenke syndrome.
Unknown causes: In some cases, the cause of turricephaly is unknown (sporadic).
Medicine Used
There are no medications that can correct craniosynostosis, the treatment involves surgical intervention to correct the skull shape. Medications may be used to manage symptoms such as:
Pain relievers: Over-the-counter or prescription pain relievers for headaches.
Medications to reduce intracranial pressure: In severe cases medications or procedures might be needed to lower the pressure inside the skull.
Is Communicable
No, turricephaly is not communicable. It is a congenital condition (present at birth) usually caused by genetic factors or spontaneous mutations.
Precautions
Since turricephaly is usually genetic there are no real ways to take precautions or prevent it. However, there are some things to keep in mind: Genetic Counseling: for at risk parents. Early Diagnosis: If a child is suspected of having turricephaly, a early diagnosis is key for surgery.
How long does an outbreak last?
Turricephaly is not an infectious disease and therefore does not have outbreaks. It is a congenital condition that is present from birth.
How is it diagnosed?
Physical examination: Observation of the skull shape.
Cranial CT scan: To visualize the skull bones and sutures and confirm premature fusion.
X-rays of the skull: To evaluate the skull sutures.
Genetic testing: To identify specific gene mutations.
Intracranial Pressure Monitoring: If the patient is experiencing the symptoms of this.
Timeline of Symptoms
At birth or early infancy: Abnormal skull shape (cone-shaped head) is usually noticeable.
Infancy/childhood: Increased intracranial pressure, headaches, vision problems, developmental delays, cognitive impairment may develop as the child grows.
Progression: Without treatment, the symptoms can worsen over time, leading to more significant neurological complications.
Important Considerations
Early diagnosis and treatment: Early surgical intervention is crucial to allow for normal brain development and to prevent complications.
Multidisciplinary approach: Management of turricephaly requires a team of specialists, including neurosurgeons, plastic surgeons, ophthalmologists, and developmental pediatricians.
Psychosocial support: Providing emotional support to the child and family is essential due to the potential impact on self-esteem and development.
Long-term follow-up: Regular monitoring is needed to assess for recurrence of craniosynostosis or development of other complications.