Treacher Collins & Down Syndrome Dental Care

• The case report aims to identify dental care for a patient co-diagnosed with Treacher Collins and Down syndromes.
• This is the third reported case in existing literature.
• This is the first reported case that relates dental treatment under general anesthesia.
• The child's nutritional assessment was paramount to the procedure.
• It highlights the importance of individualized therapeutic protocols for patients with special needs.
• It optimizes treatment results in a single general anesthesia session.
• Oral health is closely related to overall health.
• Awareness is important so that the whole influences the success of medical treatment.

Treacher Collins Syndrome (TCS)

• TCS, or Mandibulofacial Dysostosis, is a hereditary disorder.
• Characterized by craniofacial anomalies, plus:
  • Abnormal external ears
  • Down-slanting palpebral fissures
  • Malar hypoplasia
  • Coloboma of the lateral portion of the lower eyelid
  • Micrognathia
• Approximate prevalence is 1:10,000-1:50,000 people, regardless of gender or race.
• TCS can be inherited in an autosomal dominant or autosomal recessive manner.
• If inheritance is autosomal dominant, the likelihood of a child inheriting the condition when either parent has the syndrome is 50%.
• Aside from facial deformities, there are often oral and dental anomalies.
• Cleft palate, missing or hypoplastic teeth, and malocclusion is characteristic.
• Malocclusion is related to a high incidence of tooth/arch discrepancies.
• Results in teeth crowding.
• Other effects:
  • Transverse maxillary hypoplasia and cross bites
  • Anterior open bite
  • Class II molar relationship with mandibular retrognathism
• Upper teeth are generally unaffected.
• Usually, teeth begin to form around the sixth week of intrauterine life.
• Comparing dental formation in the maxilla and mandible indicates a delay.
• Paralysis of the differentiation of the mandibular formation and the lower teeth in the second month of fetal life or after is evident.
• Dental malocclusion is usually caused by deficiencies in the bone bases.

Down Syndrome (DS)

• One of the most common genetic abnormalities in the world.
• Prevalence of 1:600-1:800 live births increases with maternal age.
• It can occur in any family.
• Caused by trisomy for chromosome 21 and has a highly variable prognosis.
• Associated features are also variable.
• Compromises the motor, physical, and behavioral development of affected individuals.
• The 47,XX,+21 or 47,XY,+21 karyotype is present in about 95% of cases of chromosomal composition in people with DS.
• This syndrome can also be characterized by a translocation or a mosaic.
• In translocation, the additional chromosome 21 is fused to another autosome.
• The most common is the one between chromosomes 14 and 21.
• Individuals with DS have specific orofacial characteristics associated with the syndrome.
• Dental malformations are ten times more common in individuals with DS than in the general population.
• These include microdontia, agenesis, delayed tooth eruption, and dental morphological alteration.
• They also have a higher prevalence of bruxism and oral disorders such as periodontal disease, malocclusion, mouth breathing, macroglossia, and malocclusion.
• These patients may have physiological limitations for swallowing and chewing.
• On top of inflamed and painful oral tissues associated with periodontitis, exacerbates the difficulty adequate caloric intake and oral hygiene practices.
• Decreases quality of life.
• Children with special needs often take pediatric drugs that contain a high level of sugar in their composition.
• Drug consumption results in a serious cariogenic challenge.
• Should receive consistent and early dental care to prevent and limit the severity of the pathologies observed.

Case Report Details

• A seven-year-old male patient with leukoderma was examined.
• Presented at the Pediatric Dentistry Specialization Clinic at PUC Minas.
• The patient's mother reported difficulty keeping up with her son's oral hygiene.
• The Genetics Service of the Hospital das Clínicas UFMG noted that the child is affected by Down and Treacher Collins Syndromes: 47,XY,+21 karyotype.
• The mother is also affected by TCS, two of her brothers, her father, three paternal uncles and her paternal grandfather.
• The pregnancy was normal, full-term delivery with no complications.

Exam Findings

• Showed eyelid coloboma, absence of lashes on the lower eyelid, iris spot (Brushfield spots), malar and mandibular hypoplasia, mandibular retrusion, convex profile with typical face, ear malformation.
• The patient also had:
  • Ear canal with bilateral profound hypoacusis
  • Short stature
  • Low weight, and muscle hypotonia
  • Slanting eyelid cracks
  • Presence of hair on the outside of the face
  • Mental disability
• They also had hypothyroidism, pyelonephritis, and seizures.
• Intraoral examination revealed a very high cariogenic activity, abnormal deciduous dentition with malocclusion, and cleft palate.
• Tooth 62 was missing, and active white spots present on the cervical of all teeth.
• 54, 55 and 75 own dentinal caries.
• Teeth 64, 65, 74, 84 and 85 has extensive coronal destruction due to caries.
• The patient presented a completely inaccessible behavior.
• A mental deficiency, characteristic of Down Syndrome.
• It was indicated to treat him under general anesthesia.
• Severe protein-calorie malnutrition with hypoalbuminemia, low neuropsychomotor development and iron deficiency anemia were observed.
• Auxiliary tests showed low levels of red blood cells, hemoglobin, and hematocrit.
• The tests also showed microcytosis, hypochromia, low serum iron, low serum ferritin, and high iron binding capacity.

Treatment

• Treatment started with:
  • Cow's milk
  • Egg white
  • Sustagen (25 vitamins and minerals to complement the diet, avoiding nutritional deficiencies)
• 15 drops of Ferrous sulphates every 12 h.
• Protovit, 10 drops a day (an auxiliary multivitamin indicated in cases of deficient anemias, restrictive and inadequate diets, chronic diseases / convalescence, prevention of rickets, among others.)
• A normal erythrogram, normal albumin was observed after 90 days.
• Serum iron levels remained low, attributed to iron distribution in the normalization of the red series.
• 120 days later, the patient had a normal erythrogram plus mild macrocytosis, normal serum ferritin levels, iron-binding capacity, saturation index, albumin as well as total protein values.
• The following medications were currently being used:
  • Bactrim (3 ml at night for pyelonephritis)
  • Depakene (4 ml every 12 h for seizure)
  • Protovit (20 drops a day, for nutrition)
  • Puran (25 mg -1/2 tablet in the morning, due to hypothyroidism)
• Any procedures to reduce the bacterial load were not possible.
• Caregivers were counseled on fluoride toothpaste and brushing three times a day.
• Dental treatment consisted mostly of extractions of teeth 64, 65, 74, 84 and 85 due to the impossibility of endodontic and definitive restorative treatment under GA.
• Selective caries removal and resin-modified glass ionomer restoration took place on Teeth 54, 55 and 75.
• Scraping as well as topical application of fluoride was also performed.
• Parents were informed and instructed about the oral hygiene care.
• Patient was then referred for preventive maintenance.

Discussion

• The first case highlighting Treacher Collins and Down syndromes co-occurrence was 20 years ago.

Conclusion

• Oral health is closely related to overall health.
• Awareness of this is important for health care professionals and the patient's families so that medical treatment is assured.
• Patients with special needs are not always able to be treated in an office setting.
• General anesthesia use facilitates dental care.
• Treatment should take a multidisciplinary approach, including a:
  • Dental Surgeon
  • Physician
  • Nutritionist

Case report on dental care for a patient with both Treacher Collins and Down syndromes. Focuses on individualized treatment protocols and the importance of nutritional assessment. Highlights optimizing dental treatment under general anesthesia.