Table 1 - uploaded by Sathyaprasad Savitha
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Manifestation of Hunter syndrome
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Hunter's syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive mucopolysaccharide disorder caused by a defect in the metabolism of glycosaminoglycans (GAGs) characterized by involvement of nervous, cardiovascular, respiratory, and mucoskeletal systems along with numerous oral manifestations. This is a case report of a 13-year-old...
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Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare X-linked recessive disease caused mutation of the gene encoding the lysosomal enzyme iduronate-2-sulfatase (IDS). Deficient lysosomal degradation of the glycosaminoglycans dermatan sulfate and heparan sulfate by mutant IDS leads to their accumulation in multiple tissues, causing pr...
Citations
... 6 Patients with HS have coarse facial features, and their skin show multiple firm reticular pattern papules. 5,7 The most serious medical conditions among HS patients are the cardiores-piratory problems and hepatosplenomegaly. 6 Cognitive and sensory impairments (visual-auditory problems) are common as well. ...
... 8 Delayed eruption, anterior open-bites and high palatal vaults are commonly noted in HS. 9,10 All these are key indicators for poor oral health and a higher prevalence of dental caries. 1,5,9 Unfortunately, this is often accompanied by limited oral care and dental services compared to other medical services, resulting in a poor oral health-related quality of life. 11 Documentations about oral health condition and the treatment outcomes among patients with HS are sparse. ...
... Owing to his comorbid medical conditions, dental treatment created challenges to dentists. This was as well noted by Savitha et al. 5 According to Ballikaya, most patients with HS would only receive palliative dental treatment due to hypo-mobility of the jaws and limited mouth opening. 1 Furthermore, Moretto et al. 17 stated that patients with mucopolysaccharidosis are at high risk for anesthesia-related complications, so dental procedures requiring sedation or general anesthesia are usually not advocated for HS. 1 This had given no choice but to manage the child using the basic behavior guidance techniques. His previous attitude toward receiving dental treatment was negatively impacted. ...
Introduction:
Hunter's syndrome (HS) is a severe metabolic disorder with heterogeneous multisystemic manifestations including orodental features. The heterogeneity of manifestations of HS, complicate the provision of proper dental care.
Case report:
A 12 years old male was diagnosed with HS and referred for a comprehensive oral rehabilitation after he failed to receive proper dental care. He was complaining of fractured infected central incisors due to trauma, multiple caries, and poor oral hygiene. Despite his negative behaviour and poor dental history, dental treatment was provided under local anesthesia, using basic behaviour guidance techniques. The treatment outcomes had a positive impact on his behavior toward dental treatment and his oral health. During the first year follow up, there was a significant improve in his oral health-related quality of life assessed by Early Childhood Oral Health Impact Scale (ECOHIS) questionnaire.
Conclusion:
This report highlighted the importance of proper referral and treatment of the necessary dental needs for patients with HS. Pediatric dentists need to work together with pediatricians to promote oral health, and formulate educational programs to eliminate barriers to necessary dental care suitable for each patient's need.
... Oral health plays a fundamental role in the life of individuals with MPS. Oral diseases may result in infection and nutritional, respiratory, chewing and speech problems, adding to their already severely debilitated state of general health (Fonseca et al. 2014;Savitha et al. 2015). ...
... Although individuals with MPS suffer from various orofacial disorders, there is a lack of studies about the characteristics of such disorders (Turra and Schwartz 2009;James et al. 2012;Fonseca et al. 2014;Kantaputra et al. 2014). Most existing studies are reports of clinical cases (Onçag et al. 2006;Antunes et al. 2013;Savitha et al. 2015;Torres et al. 2018). ...
... The results of the present showed that the prevalence of gingivitis was higher among patients with MPS. This result was similar to other studies (Rolling et al. 1999;Hingston et al. 2006;Turra and Schwartz 2009;Antunes et al. 2013;Mcgovern et al. 2010;Kantaputra et al. 2014;Savitha et al. 2015;Braúna et al. 2016). One of the possible explanations for this is that due to their disability, responsibility of the daily oral hygiene of individuals with MPS falls to their parents/guardians, who may not always be able to perform this task, or who might not have received information about the importance of brushing their child's teeth, or the best way to go about this task. ...
PurposeThis study described and compared the oral characteristics of Brazilian individuals with mucopolysaccharidosis (MPS) and without MPS.MethodsA cross-sectional study was performed with 29 individuals with MPS and 29 without MPS and their parents/guardians. The individuals were aged between 3 and 21 years and attended at two hospitals in Belo Horizonte, southeastern Brazil. The dental characteristics were evaluated by clinical examination of dental caries, gingivitis, malocclusion, dental anomalies and developmental defects of enamel. The parents/guardians answered a questionnaire about the sociodemographic and behavioural aspects of their children. The study was approved by the Research Ethics Committee of the Federal University of Minas Gerais.ResultsThe average age of the individuals was 13.9 years (± 7.2). The majority were male (58.6%), had black/brown skin (70.7%) and were from favored economic class (89.7%). Dental caries, gingivitis, malocclusion and dental anomalies were more prevalent in the MPS group (p < 0.05).Conclusion
The individuals with MPS had a higher prevalence of oral diseases and dental anomalies than the group without MPS.
... Systemic manifestations of Hunter's syndrome are macrocephaly, moderate to severe developmental delay, dysmorphic facies, skeletal abnormalities, joint contractures, hepatosplenomegaly, cardiac valvular disease, as well as corneal clouding, and puffy eyelids. Intraoral manifestations include an enlarged tongue, hyperplastic gingivae, broad arches with interdental spacing, anterior open bite, hypoplasticity, peg-shaped teeth with delayed development and eruption 4,5 . ...
Hunter’s syndrome or mucopolysaccharidosis (MPS) type II is an inherited disorder caused by enzyme iduronate-2-sulfatase deficiency. It is characterized by involvement of the nervous, cardiovascular, respiratory, and musculoskeletal systems, along with numerous oral manifestations. This is a case report of an eight year-old girl diagnosed with Hunter’s syndrome, who was referred to the Pediatric Dentistry Department, Faculty of Dentistry, Cairo University with a chief complaint of hard swelling related to the lower left posterior area. Radiographic examination revealed well defined corticated radiolucency surrounding an unerupted lower left first molar. Aspiration was done and cytopathologic examination revealed cystic fluid mixed with blood. The case was diagnosed as a dentigerous cyst. Cyst marsupialization was done under general anaesthesia. From this case report we concluded that in Hunter’s syndrome patients more conservative approaches are more valuable. Regular dental follow up is advised to maintain good oral hygiene, and to detect any complications as early as possible.
... The common systemic and oral presentations are listed in Table 2. [6] No obvious cardiovascular manifestations were reported in this case. Severe mental retardation and early presentation of symptoms suggest that the patient had a severe form of Hunter's syndrome. ...
Hunter's Syndrome or mucopolysaccharidosis Type II is a rare metabolic disorder caused by the deficiency of lysosomal enzyme iduronate-2-sulfatase. It results in progressive accumulation of deramatan and heparan sulfates in tissues leading to a wide clinical spectrum of systemic manifestations. This is a case report of a 6-year-old boy with classical features of Hunter's Syndrome who presented with a chief complaint of multiple decayed teeth. The purpose of this case report is to highlight the role of a pediatric dentist in the management of such special children with advanced dental care.
Kindler syndrome is a rare autosomal recessive inherited disease characterized by infantile acral bullae, progressive poikiloderma, cutaneous atrophy, photosensitivity and various forms of mucosal involvement. In this paper, we report a case of a 49-year-old Greek Caucasian male aiming to emphasize the importance of genetic analysis as a gold standard of diagnosis.
We described herein the oral and craniofacial features of a 7-year-old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HSCT) at 70 days of age. The main oral clinical findings were the following: macroglossia, posterior cross-bite, crowding, pointed cuspid teeth, delayed tooth eruption, retained primary teeth, and enamel hypoplasia. The image examination showed: retention eruption, posterior primary teeth with short roots, absence of some permanent teeth, and stretching of the stylohyoid processes bilaterally. This patient showed the importance of early diagnosis and HSCT therapy in attenuating the clinical and radiographic oral and craniofacial manifestations of the MPS II patient.
Gardner's syndrome is an autosomal dominant inherited disorder. Familial polyposis of the colon, osteomas, hypertrophy of the retinal-pigmented layer and a multitude of soft tissue tumors are characteristic features. The syndrome may be presented with colonic or extracolonic symptoms. A 75-year-old male patient presented to Al-zahra Clinic with diffuse abdominal pain. An abdominal surgery was performed on him due to invasive abdominal mass. The surgical specimen was examined by H&E and immunohistochemical staining. The final diagnosis was fibromatosis. There was a history of gardner's syndrome in his family. Colonoscopy was done to confirm the diagnosis of gardner's syndrome. The diagnosis of gardner's syndrome was made according to following findings: abdominal fibromatosis, multiple jaw osteomas and polyposis coli. The patient with gardner's syndrome can present with abdominal fibromatosis even in an old age. In IHC staining CD117 was seen with coarse granular cytoplasmic pattern in fibromatosis, and so, this pattern of CD117 staining can be a clue to the diagnosis of fibromatosis.
