Dental and Health Aspects in Treacher Collins and Down Syndromes (PDF)

Received: 16 December 2021 Revised: 10 May 2022 Accepted: 11 May 2022 DOI: 10.1111/scd.12%35 CASE REPORT Dental and health aspects in the co-occurrence of Treacher Collins and Down syndromes: Case report Priscilla Sena Souza Luz Campos1 Paulo Franco Taitson2 Luís Cândido Pinto da Si...

Received: 16 December 2021 Revised: 10 May 2022 Accepted: 11 May 2022 DOI: 10.1111/scd.12%35 CASE REPORT Dental and health aspects in the co-occurrence of Treacher Collins and Down syndromes: Case report Priscilla Sena Souza Luz Campos1 Paulo Franco Taitson2 Luís Cândido Pinto da Silva1 Leticia Lima Leão3 1 Department of Pediatric Dentistry, Pontifical Catholic University of Minas Abstract Gerais, Belo Horizonte, Minas Gerais, The goal of this case report is to identify the dental care of a patient who has co- Brazil occurrence of Treacher Collins and Down syndromes. It is the third case reported 2 Pontifical Catholic University of Minas Gerais and São Francisco de Assis in the literature and the first relating dental treatment under general anesthe- Hospital, Belo Horizonte, Minas Gerais, sia and multidisciplinary importance. It was necessary the child’s nutritional Brazil assessment in this case. This case highlights the importance of individualiz- 3 Clinical Genetic Service, Federal ing therapeutic protocols, due to the behavioral aspects of patients with special University of Minas Gerais, UFMG, Belo Horizonte, Minas Gerais, Brazil needs, optimizing treatment results in a single session under general anesthesia. Oral health is closely related to overall health, and it is important for awareness Correspondence that the whole influences the success of medical treatment. Priscilla Campos, Departamento de Odontopediatria, Pontifícia Universidade Católica de Minas Gerais, Faculdade de KEYWORDS Odontologia, Av. D. José Gaspar, 500, Down syndrome, general anesthesia, pediatric dentistry, Treacher Collins Dom Cabral, Belo Horizonte, Minas Gerais CEP: 30535 (01, Brazil. Email: [email protected] 1 INTRODUCTION teeth; transverse maxillary hypoplasia and cross bites; anterior open bite; and Class II molar relationship with Treacher Collins Syndrome (TCS) or Mandibulofacial mandibular retrognathism.3 Dysostosis is a hereditary disorder. It is characterized The upper teeth are generally unaffected and, in most by craniofacial anomalies as esternal ears abnormali- cases, begin to form around the sixth week of intrauterine ties, down slanting palpebral fissures, malar hypoplasia, life. When comparing the dental formation in the maxilla coloboma of lateral portion of the lower eyelid and microg- and mandible, the delay or paralysis of the differentiation nathia. It has an approximate prevalence of 1:10 000–1:50 of the mandibular formation and the lower teeth in the 000 people, regardless of gender or race. TCS can be inher- second month of fetal life or after is evident. There is also ited in an autosomal dominant or autosomal recessive a dental malocclusion, which in most cases is caused by manner. If inheritance is autosomal dominant, the likeli- deficiencies in the bone bases.) hood of a child inheriting the condition when either parent Down syndrome (DS) is one of the most common has the syndrome is 50%.1,2 genetic abnormalities in the world, with a prevalence In addition, with facial deformities, there are often oral of 1:600–1:800 live births increasing with maternal age, and dental anomalies, such as cleft palate, missing or which can occur in any family. It is caused by trisomy hypoplastic teeth. Malocclusion is related to a high inci- for chromosome 21 and has a highly variable prognosis. dence of tooth/arch discrepancies, resulting in crowded Associated features are also variable. Compromises the © 2022 Special Care Dentistry Association and Wiley Periodicals LLC. Spec Care Dentist. 2022;1–5. wileyonlinelibrary.com/journal/scd 1 2 CAMPOS e, -.. motor, physical and behavioral development of affected individuals.5–% The )%,XX,+21 or )%,XY,+21 karyotype is present in about (5% of cases of chromosomal composition in peo- ple 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 1) and 21.8 Individuals with DS have specific orofacial characteris- tics associated with the syndrome. Dental malformations are ten times more common in individuals with DS than in the general population. These include microdontia, agene- sis, delayed tooth eruption and dental morphological alter- ation. 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, in addition to having inflamed and painful oral tissues associated with periodontitis, they F I G U R E 1 Mother (affected by Treacher Collins syndrome) and child (affected by both, Treacher Collins and Down syndrome can exacerbate the difficulty of adequate caloric intake and [Color figure can be viewed at wileyonlinelibrary.com] oral hygiene practices, decreasing quality of life.10 In addition, children with special needs often take pediatric drugs that contain a high level of sugar in their composition, which results in a serious cariogenic challenge.11 For all these reasons, they are a group that should receive regular and early dental care to prevent and limit the severity of the pathologies observed.12 2 CASE REPORT Patient F.P.M, % years old, male, leukoderma (Figure 1), presented at the Pediatric Dentistry Specialization Clinic at PUC Minas, with his mother, who reported a difficulty in her son’s oral hygiene. A medical report of the child, from the Genetics Service of the Hospital das Clínicas UFMG, described that the child is affected by Down and Treacher Collins Syndromes. His karyotype was )%,XY,+21. Only son of a young couple, not consanguineous. The mother is also affected by TCS (Figure 2), as well as two of her brothers, her father, three paternal uncles and her F I G U R E 2 Mother (affected by Treacher Collins) [Color figure can be viewed at wileyonlinelibrary.com] paternal grandfather. Normal, full-term delivery with no complications. Clinical examination shows eyelid coloboma, absence Intraoral examination revealed a very high cariogenic of lashes on the lower eyelid, iris spot (Brushfield activity, abnormal deciduous dentition with malocclusion spots), malar and mandibular hypoplasia, mandibular and cleft palate. Tooth 62 was missing, and active white retrusion, convex profile with typical face, ear malfor- spots present on the cervical of all teeth. 5), 55 and %5 own mation, ear canal with bilateral profound hypoacusis, dentinal caries. Teeth 6), 65, %), 8) and 85 has extensive short stature, low weight, muscle hypotonia, slanting eye- coronal destruction due to caries. lid cracks, presence of hair on the outside of the face The patient presented a completely inaccessible behav- and mental disability (Figures. 3 and )). The patient ior, due to mental deficiency, characteristic of the Down is also affected by hypothyroidism, pyelonephritis, and Syndrome. It was indicated to treat him under general seizures. anesthesia. During the pre-anesthetic examination, in CAMPOS e, -.. 3 After (0 days, the patient already had a normal erythro- gram, normal albumin, but the serum iron levels remained low, probably due to the use of all the iron administered in the normalization of the red series, which has not yet allowed the formation of stocks (serum ferritin levels). In the last examination performed (after 120 days), the patient had a normal erythrogram, with mild macrocytosis. Serum ferritin levels, and their iron-binding capacity, saturation index, albumin and total protein values were normal. The following medications were currently being used: Bactrim⃝ R (3 ml at night, due to pyelonephritis); F I G U R E 3 Facial clinical characteristics [Color figure can be Depakene⃝ R () ml every 12 h, for seizure); Protovit⃝ R (20 viewed at wileyonlinelibrary.com] drops a day, for nutrition); Puran⃝ R (25 mg -1/2 tablet in the morning, due to hypothyroidism). Due to the patient’s inaccessible behavior, it was not pos- sible to perform any procedures to reduce the bacterial load during the days prior to the visit under GA. Caregivers were counseled on the use of fluoride toothpaste and the need to insist on brushing at least three times a day. As the patient’s behavior did not allow outpatient care, he was treated under general anesthesia. The den- tal treatment consisted mostly of extractions of teeth 6), 65, %), 8) and 85 due to the impossibility of endodontic and definitive restorative treatment. For teeth 5), 55 and %5, treatment consisted of selective caries removal and resin-modified glass ionomer restoration. Scraping and topical application of fluoride were also performed. The parents were informed and instructed about the oral hygiene care they should perform with the child at home. The patient was referred for preventive mainte- nance appointment, aiming to reduce the risks of oral F I G U R E 4 Child in profile showing ear malformation [Color conditions that require invasive treatments in future. figure can be viewed at wileyonlinelibrary.com] 3 DISCUSSION addition to the pathologies already described, the patient presented severe protein-calorie malnutrition with hypoal- The first case of Treacher Collins and Down syndromes buminemia, low neuropsychomotor development and iron co-occurrence was described 20 years ago, in which a 3%- deficiency anemia. Auxiliary tests showed low levels of red week-old male baby presented with cleft lip and palate, blood cells, hemoglobin, and hematocrit. mandibular hypoplasia and atresia of the ear canal and The tests also showed microcytosis, hypochromia, low cardiac changes, being its karyotype )%,XY,+21.13 serum iron, low serum ferritin and high iron binding The second case reported was also of a male newborn. capacity. At the recommendation of the team’s anesthesi- Severe airway abnormalities were described in this child, ologist, treatment was initiated based on cow’s milk, egg who required an emergency tracheostomy within the first white and Sustagen⃝, R which consists of a total of 25 vita- hour of life.1) mins and minerals that help complement the diet, avoiding This is the third case reported in the literature of a nutritional deficiencies. 15 drops of Ferrous sulphates were child with both syndromes. Although Down syndrome also administrated (every 12 h) and Protovit⃝ R (10 drops and Treacher Collins syndrome may have some overlap a day) which is an auxiliary multivitamin indicated in of facial characteristics, both syndromes have different cases of deficient anemias, restrictive and inadequate diets, clinical phenotypes. Renju et al. in 201), described in chronic diseases / convalescence, prevention of rickets, their report, physical appearance of TCS like abnormali- among others. ties in eyes, ears, nose, mouth, and facial bone of a girl. In 4 CAMPOS e, -.. addition, the child’s father is also affected by the syndrome, is required, including a dental surgeon, physician, and which corroborates with our study.15 nutritionist. The systematic review and meta-analysis by Vicente et al. in 2020 concluded that individuals with DS have CONFLICT OF INTEREST a reduced cranial base, reduced maxillary in the sagit- The authors declare no conflict of interest. tal plane and reduced facial height in the posterior and anterior regions compared to healthy individuals, charac- AU T H O R CO N T R I B U T I O N teristics also seen in our patient.16 Signs of both disorders All the authors made substantial contributions to concep- were manifested in our patient; however, our patient’s tion and design, or acquisition of data, or analysis and craniofacial characteristics are more indicative of Treacher interpretation of data; Involved in drafting the manuscript Collins than Down syndrome. and revising it critically for important intellectual content; Ortega et al. in 2006 and Martelli-Junior et al. in 200(, Given final approval of the version to be published; Agreed considered the occurrence of CTS in their patients as iso- to be accountable for all aspects of the work in ensur- lated cases since no family member was affected.1% In the ing that questions related to the accuracy or integrity of present case, Treacher-Collins syndrome was identified any part of the work are appropriately investigated and in eight members of three consecutive generations of the resolved. patient’s family, evidencing an autosomal dominant inher- itance pattern. As Down syndrome is very prevalent in the E T H I C S S TAT E M E N T population, the co-occurance of the two syndromes could The patient’s mother has signed a consent form, which be random. includes statements that indicate her permission for In this case, the use of general anesthesia (GA) was images and other clinical information to be published for necessary due to the child’s difficult behavior. As Sultan educational purposes. The manuscript content is original et al. reported in 2020, treating patients who have comor- and has not been published or submitted elsewhere. bidities is challenging. As in their case, our patient was unable to receive commands in the dental chair due to a REFERENCES delay in intellectual development, a peculiarity attributed 1. Jones, MC. Treacher-Collins syndrome and related disorders. to DS, so the use of behavior management techniques was In: Carey JC, Battaglia A, Viskochil D, Cassidy SB, eds. 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