• 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.

• 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 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 Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.160-164
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• 2015

Hunter syndrome(Mucopolysaccharidosis type II, MPS type II) is an X-linked disorder of glycosaminoglycans (GAGs) metabolism caused by an iduronate-2-sulfatase (IDS2) deficiency. A 24-month-old boy visited the department of pediatrics with the chief compliant of chronic purulent rhinorrhea beginning at age one. He had a history of repeated acute otitis media and chronic rhinitis. On physical examination he had a coarse face, enlarged tongue, distended abdomen, joint stiffness, and Mongolian spots at his first visit. The urine GAGs level was elevated at 66.10 mg/mmolCr (reference range, <11.1) and iduronate-2-sulfatase activity in leukocyte was decreased at 0.21 nmol/mg protein/hr (reference range, 18.7-57). Finally with an IDS gene mutational analysis, recombinant known mutation between intron 7 and distal of exon 3 in IDS2 was detected. Recombinant iduronate-2-sulfatase therapy was started without any infusion related reactions. The author highlights the importance of suspecting Hunter syndrome when pediatric patients visit with chronic purulent rhinorrhea which is a common cause of hospital visits for infants and children.

• 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.

• 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 Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.156-162
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• 2014

A 25-month-old boy was referred to the hospital due to large head detected on routine physical examination. At visit, dysmorphic facial appearances, including broad nose, prominent forehead, and coarse face, were noted. Nasal obstruction with nasal voice, prominent adenoids, and bilateral middle ear effusions were detected. His abdomen was distended, and liver and spleen were palpated about 3 finger and 2 finger breadths, respectively. He was operated for bilateral inguinal hernias. The motion of both elbow joints was mildly limited on supination and pronation. Urinary level of glycosaminoglycan was elevated and the enzyme activity of iduronate sulfatase in leukocytes was decreased. The mutational analysis of the gene iduronate 2-sulfatase (IDS) revealed c.263G>A (p.Arg88His) mutation. His developmental scale showed delayed development and there was cardiac valvular involvement (tricuspid regurgitation and mitral valve prolapse). After the diagnosis of Hunter syndrome, enzyme replacement therapy started on a weekly basis without progression of any clinical features. Here we report a case of early diagnosed Hunter syndrome detected by large head on routine examination. Thus, it is important to associate Hunter syndrome in the patient with large head especially, if there is the history of bilateral inguinal hernia and prominent adenoids to increase the possibility of early diagnosis and treatment.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.87-92
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• 2015

Mucopolysaccharidosis (MPS) is an inherited disease entity associated with lysosomal enzyme deficiencies. MPS type 2, also known as Hunter syndrome, has a characteristic morphology primarily involving x-l inked recessive defects and iduronate-2-sulfatase gene mutation. The purpose of this case report is to provide important clues to help pediatricians identify Hunter syndrome patients earlier (i.e., before the disease progresses). A 30-month-old boy showed developmental delay and decreased speech ability. Physical examinations revealed a flat nose and extensive Mongolian spots. Brain magnetic resonance images (MRIs) showed bilateral multiple patchy T2 hyperintense lesions in the periventricular and deep white matter, several cyst-like lesions in the body of the corpus callosum, and diffuse brain atrophy, which were in keeping with the diagnosis. Based on these findings, the patient was suspected of having MPS. In the laboratory findings, although the genetic analysis of IDS (Iduronate-2-sulfatase) did not show any pathogenic variant, the enzymatic activity of IDS was not detected. We could confirm the diagnosis of MPS, because other sulfatases, such as ${\alpha}$-L-iduronidase, were detected in the normal range. Early enzymatic replacement therapy is essential and has a relatively good prognosis. Therefore, early diagnosis should be made before organ damage becomes irreversible, and brain MRIs can provide additional diagnostic clues to help distinguish the disorder.

• Clinical and Experimental Pediatrics
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• v.51 no.6
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• pp.650-654
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• 2008

Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.

• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1132-1138
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• 2005

Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. Methods : Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. Results : Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7 : 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. Conclusion : Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.