What is Pura Syndrome?

Pura syndrome is a very new disease that was only identified in 2014 and is a rare genetic disease that occurs due to an error in the pura gene or the absence of a copy of the gene.

The Pura gene is located on the long arm of chromosome 5 (5q31.2) and is responsible for coding the Pur-alpha protein. This gene has an important role, especially in postnatal brain development.

Pura syndrome is characterized by growth and developmental delays, learning disabilities, respiratory problems, seizures, and low muscle tone (hypotonia). Other symptoms seen are;

• myopathic face (facial muscles are weak and have difficulty opening the eyelids and gathering the lips)
• visual disturbances (strabismus, hyperopia, nystagmus)
• first step delay (28 months-7 years)
• movement disorder, hypermobility (excessive and involuntary movement of joints)
• orthopedic problems such as hip dislocation and scoliosis
• repetitive hand movements
• epilepsy (50%)
• Endocrine disorders such as vitamin D deficiency
• excessive hiccups
• swallowing and feeding disorders
• excessive salivation
• reflux
• constipation

Definitive diagnosis is made by molecular genetic examination in clinically and phenotypically suspected cases.

Treatment for Pura syndrome is determined specifically for the individual. Physical therapy support for movement and walking, drug treatment with neurology follow-up for epilepsy or seizures, special education support for speech and mental retardation, and a multidisciplinary approach for other existing problems are important.

It has been observed that even patients with severe muscle weakness can start walking after the age of 5.

Patients who have difficulty swallowing due to muscle weakness may require placement of a gastrostomy tube.

There are not enough studies on tooth and jaw development. After a detailed examination of oral and dental health, treatment and recommendations can be made for the individual.

It should not be forgotten that gum problems and gum growth can be seen in people using epileptic drugs. Abrasion and erosion can be seen in teeth due to reflux. Although there is no sufficient study, epileptic drugs used, underdevelopment of jaw and facial muscles, reflux, etc. can cause teeth clenching and grinding.

It is necessary and important that the parent or responsible person performs dental cleaning and oral care twice a day with fluoride toothpaste, even if the patient is unable to spit. The dentist should determine how oral and dental care should be performed in a way that is specific to the person's cognitive skills and physical coordination, and should explain in detail to the patient and/or the parent or responsible person, and should guide the patient in the use and selection of toothpaste, toothbrush, dental floss, and mouthwash.

Regular dental check-ups at least twice a year are important for early detection of problems and maintaining the current situation.

*www.purasyndrome.org

Pediatric Dentist Cansu Uzun Önalan