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Question: Standard Therapies - Hallermann Streiff Syndrome

Answer: Treatment
The treatment of Hallermann-Streiff syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians, craniofacial surgeons, eye specialists (ophthalmologists), dental specialists, and/or other health care professionals.

For infants with feeding and respiratory difficulties, early disease management should include monitoring of breathing, consideration of tracheostomy (creation of an opening through the neck into the windpipe into which a tube is inserted, to help maintain an effective airway), and various supportive measures to improve feeding and ensure sufficient intake of nutrients. In addition, early surgical removal of cataracts may be recommended to help preserve vision; however, some investigators indicate that the frequency of spontaneous cataract absorption (see “Symptoms”) may be underestimated in those with Hallermann-Streiff syndrome, suggesting that it may occur in up to 50 percent of untreated patients followed up through age 5 years. These physicians may advise waiting for possible spontaneous cataract absorption in selected cases, particularly for patients with significant microphthalmia. Regular close ophthalmology follow-up is strongly recommended to identify and treat other eye abnormalities like nystagmus, ptosis and entropion, which may require surgical intervention to avoid developing a lazy eye (amblyopia) and allow appropriate development of vision. Further investigation is needed regarding the frequency of spontaneous cataract absorption and optimal treatment approaches.

With respect to dental anomalies, it is important to note that the natal/neonatal teeth (teeth present at birth) may be incorrectly diagnosed as supernumerary (extra) teeth and there may be a tendency to extract them. However, apart from their role in mastication (chewing), teeth are also important for maintaining the vertical dimensions of the oral cavity, and the loss of teeth may worsen the glossoptosis (posterior location of the tongue) by over closure of the already small lower jaw (micrognathia). Whenever possible every effort should be made to preserve these prematurely erupted deciduous (baby) teeth to facilitate future nutritional intake and prevent unfavorable sequelae, until the existence of successional permanent teeth can be confirmed. Also, because individuals with Hallermann-Streiff syndrome have malformed teeth with abnormal roots and enamel hypoplasia, they are predisposed to developing severe dental caries making it imperative to ensure good dental hygiene. It may be difficult to perform root canal treatment and other therapies to preserve a tooth with underdeveloped roots, and therefore these patients need appropriate, frequent pediatric dental evaluations.

Recommended disease management may also include surgical reconstruction of certain craniofacial malformations (particularly the mandibular and nasal region) at the appropriate age. Some affected individuals may have a risk of anesthetic complications, since endotracheal intubation and laryngoscopy may be difficult due to upper airway obstruction. Intubation may be required for the delivery of oxygen or anesthetic gases during surgery. A viewing tube (laryngoscope) is used before intubation to help identify the vocal cords. A breathing (endotracheal) tube is then passed through the mouth down the throat and into the windpipe. The greatest anesthetic challenge lies in the maintenance of an appropriate airway due to upper airway deformities which make mask ventilation, laryngeal exposure and tracheal intubation
difficult. The options available to circumvent the problems during difficult intubation are, awake intubation, intubation over a fiberoptic bronchoscope and intubation under inhalational anesthesia. This potential anesthetic risk must be taken into consideration by surgeons, pediatric anesthesiologists, and other health care providers when making decisions concerning surgery.

For some affected infants and children with heart defects, medical treatment, surgical intervention, and/or other surgical measures may also be recommended. The specific surgical procedures performed will depend upon the size, nature, severity, and/or combination of the anatomical abnormalities, their associated symptoms, and other factors.

Early intervention is important to ensure that children with Hallermann-Streiff syndrome reach their potential. Special services that may be beneficial include special remedial education, special social support, physical therapy, and other medical, social, and/or vocational services.

Genetic counseling may also be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

(Source: National Organization for Rare Disorders (NORD), 10 Dec 2020)

Source Link: https://rarediseases.org/rare-diseases/hallermann-streiff-syndrome/