• Journal of Korean Academy of Nursing
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• v.42 no.5
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• pp.609-621
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• 2012

Purpose: The purpose of this study was to explore the experiences of Korean mothers in parenting children with Hunter's syndrome, an X linked recessive genetically inherited disease usually affecting boys. Methods: Data were collected from 14 mothers having children with Hunter's syndrome, through two focus group interviews and individual in-depth interviews. Qualitative data from the field notes and transcribed notes were analyzed using the grounded theory methodology developed by Strauss & Corbin (1998). Results: The core category about the process of rearing children with Hunter's syndrome was identified as "navigating in the maze". The process of rearing children with Hunter's syndrome passed through three phases; 'entering an unknown region', 'struggling to escape from the unknown region', 'settling down in the unknown region'. Conclusion: In this study "navigating in the maze", as the core category deeply showed joys and sorrows of mothers in the process of rearing their children with Hunter's syndrome. In this rearing process they gradually adjusted themselves to their given condition. Also they gained initiatively coping strategies to care for, and protect their children. Therefore health care providers can establish supportive programs in the clinical field to empower these mothers by reflecting their proactive coping strategies.

• The Journal of Pediatrics of Korean Medicine
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• v.21 no.2
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• pp.145-152
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• 2007

Objectives The purpose of this study is to report a case that has an important meaning as a result of treating. Hunter syndrome patient with oriental medicine for elevation of quality of life and continuous health care. Methods The patient had abdominal dropsy, abdominal pain, constipation, frequent gases and the common cold, so we treated him with herbal medicine, acupuncture, infra red, laser, CEP nebulizer, aroma massage and cupping. Results After the treatment, the girth of abdomen didn't Increase any more, and abdominal pain, constipation, frequent gases and common cold were improved. Conclusions This study shows that oriental medicine can elevate the Hunter syndrome patient's quality of life with continuous heath care and treatment for major problem. For more accurate studies, further studies would be needed with more cases.

• Journal of Korean Neurosurgical Society
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• v.54 no.3
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• pp.243-245
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• 2013

Bow hunter's syndrome (BHS) is rare cause of vertebrobasilar insufficiency that arises from mechanical compression of the vertebral artery by head rotation. There is no standardized diagnostic regimen or treatment of BHS. Recently, we experienced 2 cases resisted continues medication and treated by surgical approach. In both cases, there were no complications after surgery and there were improvements in clinical symptoms. Thus, we describe our cases with surgical decompression with a review of the relevant medical literature.

• The Journal of Dong Guk Oriental Medicine
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• v.10
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• pp.77-85
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• 2008

Objective : The purpose of this study is to report a case that has an important meaning as a result of treating Hunter syndrome patient with oriental medicine for elevation of quality of life and continuous health care. Methods : The patient complained of abdominal dropsy, abdominal pain, constipation, frequent gases and the common cold. So we treated him with herbal medicine, acupuncture, infra red, laser, CEP nebulizer, aroma massage and cupping. Results : After treatment, the girth of abdomen didn't increse any more and abdominal pain, constipation, frequent gases and common cold were improved. Conclusion : This study shows that oriental medicine can elevate the Hunter syndrome patient's quality of life with continuous heath care and treatment for chief complaint. The further study is needed with more cases.

• Journal of the Korean Orthopaedic Association
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• v.55 no.1
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• pp.85-89
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• 2020

Bow hunter's syndrome is a rare disease that shows the symptoms of vertebrobasilar insufficiency resulting from a dynamic obstruction or stenosis of the vertebral arteries during neck movement. This paper reports a case of a 59-year-old male who visited the emergency room with diplopia, tinnitus, and gait disturbance. Magnetic resonance imaging and angiography revealed a multiple cerebellar infarct, total obstruction of the right vertebral artery, and dynamic obstruction of the left vertebral artery during neck extension. As the infarction worsened, a thrombectomy was done. Posterior decompression and fusion at C5-6 were performed for the left vertebral artery. The left vertebral arterial patency was confirmed by intraoperative and postoperative angiography. No recurrence of the symptoms was observed for six months after surgery. Physicians need to pay attention to the diagnosis of vertebrobasilar insufficiency caused by an obstruction of the vertebral arteries during neck extension in cervical instability patients.

• Journal of the korean academy of Pediatric Dentistry
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• v.39 no.4
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• pp.412-417
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• 2012

Mucopolysaccharidosis (MPS) is a disorder which is caused by the defect of the lysosomal enzyme that is essentially needed for resolution of glycosaminoglycans (GAGs). Metabolite of GAGs will accumulate in the lysosome of cells and will result in the dysfunction of cells, tissues, and organs. Eventually, patients will manifest both mental retardation and physical disorders. In worst cases, mucopolysaccharidosis can cause premature death. The current clinical types have been classified as MPS from type I to type IX according to the defect of certain enzyme. The dental complications have been reported as delay of eruption, enamel hypoplasia, microdontia, malocclusion, condylar defects, gingival hyperplasia and dentigerous cystlike follicle. This clinical report presents the case of a boy with MPS type II, Hunter Syndrome which has various dental complications.

• Journal of the korean academy of Pediatric Dentistry
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• v.29 no.2
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• pp.196-203
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• 2002

Most dentigerous cysts are solitary. Bilateral and multiple dentigerous cysts are rare and occur typically in association with a number of syndromes such as Maroteaux-Lamy syndrome, Hunter's syndrome, Basal cell nevus syndrome, Marfan syndrome, cleidocranial dysplasia. The presented case is of bilateral nonsyndromic, dentigerous cysts associated with mandibular right and left first premolars. A marsupialization procedure may be a choice of treatment for a large sized dentigerous cyst rather than an enucleation. The marsupialization procedure is recommended during the age when the erupting force of the teeth is still strong. We can expect the unerupted tooth to erupt normally. Although most of bilateral or multiple dentigerous cysts which are not associated with syndromes are rare, a bilateral dentigerous cyst without syndrome is seen. Therefore, it is wise to explain a possibility of development of new one to patient / parents in advance.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.