CHRISMED Journal of Health and Research

CASE REPORT
Year
: 2018  |  Volume : 5  |  Issue : 1  |  Page : 63--66

A rare case of severe Hunter's Syndrome


Sharon Vincent, Joe Mathew Cherian, Abi M Thomas, Rajesh Kumar 
 Department of Pedodontia and Preventive Dentistry, Christian Dental College, Ludhiana, Punjab, India

Correspondence Address:
Sharon Vincent
Department of Pedodontia and Preventive Dentistry, Christian Dental College, Brown Road, Ludhiana - 141 008, Punjab
India

Abstract

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.



How to cite this article:
Vincent S, Cherian JM, Thomas AM, Kumar R. A rare case of severe Hunter's Syndrome.CHRISMED J Health Res 2018;5:63-66


How to cite this URL:
Vincent S, Cherian JM, Thomas AM, Kumar R. A rare case of severe Hunter's Syndrome. CHRISMED J Health Res [serial online] 2018 [cited 2021 Sep 21 ];5:63-66
Available from: https://www.cjhr.org/text.asp?2018/5/1/63/223130


Full Text



 Introduction



Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to breakdown molecules called glycosaminoglycans.[1] The presentation of the disease depends on the specific enzyme deficit out of the 11 enzymes involved in the MPS pathway [Table 1]. MPS Type II, first described by Major Charles Hunter, in 1917, is a rare hereditary metabolic disorder caused by the absence, deficiency, or malfunction of lysosomal enzyme iduronate-2-sulfatase resulting in accumulation of dermatan and heparan sulfates.[1] It is an X-linked recessive disorder that affects between 1 in 100,000–150,000 male live births.[2] Although this disease occurs almost exclusively in males, Hunter's syndrome has also been reported in a small group of female patients, manifesting with equal severity.[3] Life expectancy of patients diagnosed with Hunter's syndrome depends on the severity of disease and central nervous system involvement, the average length of survival being 10–20 years in severe forms and 20–60 years in milder forms.[2] The purpose of this case report is to highlight the role of pediatric dentists in the management of such special children with MPS Type II.{Table 1}

 Case Report



A 6-year-old boy presented with his mother to the Department of Pediatric Dentistry in a postgraduate training institute in North India with a chief complaint of multiple decayed teeth in upper and lower jaw. Medical history revealed that though the child was normal at birth, he developed noisy breathing and floppy movements in a few days. At 2 months of age, the mother noticed an abnormal increase in body proportion. The patient was diagnosed with MPS Type II at the age of 2 years. The boy is the 2nd child of healthy nonconsanguineous parents. There was no family history of the similar condition.

On clinical examination, the patient had a protuberant abdomen with an umbilical hernia. He was short-statured for his chronological age, had stubby hands and feet with Grade III clubbing in fingers and toes [Figure 1]. Lumbar scoliosis and joint contractures were noted bilaterally on the knees and elbows [Figure 2]. Mental retardation was present with speech and learning impediment along with a lack of responsiveness to verbal commands.{Figure 1}{Figure 2}

Extraoral findings included macrocephaly, coarse facies, hirsutism, depressed nasal bridge, flared nostrils, low set ears, short neck, broad mandible, thickened lips, and limited mouth opening. Intraorally, the patient had macroglossia, protruding tongue, wide spaced dentition, and maxillary peg laterals. Maxillary and mandibular right and left deciduous molars were found to be carious with root stumps in relation to the mandibular deciduous canines and the left first deciduous molar [Figure 3].{Figure 3}

Intraoral periapical radiographs were done to assess the extent of caries and the treatment plan was formulated. Clearance from the pediatrician and written informed consent from the mother were taken before the treatment. Restorations were done quadrant-wise using high strength glass ionomer cement followed by extraction of root stumps after preanesthetic clearance. Diet counseling and preventive oral hygiene measures were instructed to the mother.

 Discussion



MPS is a group of autosomal recessive disorders except for Hunter's syndrome which is an X-linked recessive condition.[5] Individuals generally appear normal at birth. Symptoms usually appear within 2–4 years of age in severe forms and by the second decade of life in mild forms. The common systemic and oral presentations are listed in [Table 2].[6]{Table 2}

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.

The screening test for MPS Type II involves analysis of the presence of heparan and dermatan sulfates in urine.[7] Confirmatory diagnosis is made by enzyme assay in leukocytes, fibroblasts, dried blood spots, and plasma using substrates specific for iduronate-2-sulfatase.[8] In this case, metabolic urine test with Azure A was done for screening the possibility of MPS Type II. Enzyme assay for leukocytes and plasma iduronate-2-sulfatase reported significantly low levels confirming the diagnosis of Hunter's syndrome.

The diverse nature of illness and absence of an early, effective, affordable treatment necessitates the need for an extensive palliative care. Oral health is of paramount importance in such patients with debilitating systemic conditions as any digression could lead to nutritional problems, irregular dietary habits which can further deteriorate patients' health. In the presented case, the patient had difficulty in mastication and was mostly on liquid diet. These factors along with the lack of adequate oral hygiene practices due to limited mouth opening and inability to rinse increases the risk of dental caries. Hence, the role of a pediatric dentist is pivotal in the management of children with special health care needs, especially such severe diseases to prolong their quality of life.

The limitations of this report include the inability to take an orthopantomogram due to the severity of mental retardation. Therefore, the radiographic status of erupting permanent teeth, any evidence of cysts could not be obtained, which is a common finding in patients with Hunter' s syndrome.

Early detection, a systematic multidisciplinary approach with appropriate information about the disease is essential to provide adequate care. Research and treatment options based on enzymatic studies, bone marrow transplant, enzyme replacement therapies, and genetic counseling, however, are available only in few centers around the globe.

 Conclusion



Hunter's syndrome is a rare disorder with a compendium of clinical findings in the literature. Awareness among dentists is needed to accurately diagnose the disease based on the clinical presentation. Communication with caregivers, social workers, patients, and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses to general and dental health. A multidisciplinary team approach is instrumental in avoiding potential complications due to the local and general anesthesia used in dental procedures in patients with metabolic disorders. Appropriate behavior management strategies can be used depending on the severity of mental retardation. Furthermore, clinicians should consider the current evidence-based perspective on the clinical aspects, diagnosis, and treatment of Hunter's syndrome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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