1.A Case of Osteopetrosis.
Young Bin CHO ; Gyu Ho LIM ; Young Choon WOO ; Ki Yang RYOO
Journal of the Korean Pediatric Society 1986;29(8):95-99
No abstract available.
Osteopetrosis*
2.Osteopetrosis
Kwang Jin RHEE ; Seung Ho YUNE ; Hak Young KIM ; Sang Rho AHN
The Journal of the Korean Orthopaedic Association 1981;16(2):467-470
Osteopetrosis is a rare familial disease, characterized roentgenographically by a marked increase in the radiodensity of bone and by abnormality in the shape of the long bone, especially the metaphysis. It was discovered fist by Albers-Schonberg in 1904 during an X-ray examination of a patient and is known as Albers-Schonberg disease, marble bone or osteosclerosis fragilis generalisata. We experienced a case of osteopetrosis in adult.
Adult
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Calcium Carbonate
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Humans
;
Osteopetrosis
4.A Case of Osteopetrosis with Optic Atrophy.
Young Bae ROH ; Kyu Ryong CHO ; Kyung Il JO ; Yong Hynn JO ; Song Hee LEE ; Byung Guk PAK
Journal of the Korean Ophthalmological Society 1980;21(4):633-635
The authors experienced a case of osteopetrosis with optic atrophies and nystagmoid movements, exceedingly rare disease, in 12 year-old girl for 5 years without fracture in long bone. On the X-ray studies: 1. The skull bone showed moderately increased osteosclerotic changes in base of the skull and narrowings in optic foramina. 2. The findings of the extremities showed flask shaped deformities and cortical thickness in both femurs. and transverse line and epiphyseal separations in mid-tibia.
Atrophy
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Child
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Congenital Abnormalities
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Extremities
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Female
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Femur
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Humans
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Optic Atrophy*
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Osteopetrosis*
;
Rare Diseases
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Skull
5.Pro-inflammatory Cytokines Modulating Osteoclast Differentiation and Function.
Semun SEONG ; Jung Ha KIM ; Nacksung KIM
Journal of Rheumatic Diseases 2016;23(3):148-153
In general, bone homeostasis is maintained through the balance between bone formation and resorption. Disruption in this balance results in bone-related diseases such as osteopetrosis, osteoporosis, and rheumatoid arthritis. Often, enhanced osteoclastogenesis is followed by accelerated bone resorption that is induced by pro-inflammatory cytokines in osteoporosis or rheumatoid arthritis, and leads to bone destruction. In this review study, factors involved in osteoclast differentiation and function are discussed, and how the prevention of such factors is effective in ameliorating bone loss in osteoporosis or rheumatoid arthritis.
Arthritis, Rheumatoid
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Bone and Bones
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Bone Resorption
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Cytokines*
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Homeostasis
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Osteoclasts*
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Osteogenesis
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Osteopetrosis
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Osteoporosis
6.Thoracolumbar Intradural Schwannoma in a Patient with Osteopetrosis.
Tae Sik GOH ; Jong Min LIM ; Jung Sub LEE
The Journal of the Korean Orthopaedic Association 2012;47(2):160-163
Schwannoma is a benign tumor derived from Schwann cells which are usually found in the head, neck, trunk, upper and lower extremities, and rarely in the thoracolumbar junction. Also, osteopetrosis is an idiopathic genetic skeletal disease that rarely occurs. Most reports of osteopetrosis are about long bone fractures, but spinal tumor in osteopetrosis has been rarely reported. Furthermore, there is no report about thoracolumbar intradural Schwannoma and its treatment in patient with osteopetrosis. Thus, we report the clinical results of a thoracolumbar Schwannoma in a 36 year-old female osteopetrotic patient who had progressive weakness, and dysesthesia of the left lower limb. The patient underwent laminectomy and total excision of tumor through a posterior approach, and a favorable clinical outcome was achieved.
Female
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Fractures, Bone
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Head
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Humans
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Laminectomy
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Lower Extremity
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Neck
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Neurilemmoma
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Osteopetrosis
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Paresthesia
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Schwann Cells
7.Triple Osteotomy for Hallux Valgus in Patient with Osteopetrosis: A Case Report.
Seung Do CHA ; Hyung Soo KIM ; Jeong Hyun YOO ; Jai Hyung PARK ; Joo Hak KIM ; Joo Won JOH
The Journal of the Korean Orthopaedic Association 2008;43(6):808-812
Osteopetrosis is a very rare hereditary musculoskeletal disorder with an unknown cause. There are few reports on this condition with most focusing on long bone fractures. Most patients with osteopetrosis require non-surgical treatment and surgery is technically difficult. Hallux valgus deformities in patients with osteopetrosis are always severe and there are no reports on its treatment. We treated a hallux valgus deformity using triple osteotomy method and experienced nonunion, subluxation of the first metatarsophalangeal joint and screw breakage. This is the first report of the surgical treatment of such a case in Korea. We report this case with a review of the relevant literature.
Congenital Abnormalities
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Fractures, Bone
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Hallux
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Hallux Valgus
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Humans
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Korea
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Metatarsophalangeal Joint
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Osteopetrosis
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Osteotomy
8.Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis.
Seon Young KIM ; Younghak LEE ; Yea Eun KANG ; Ji Min KIM ; Kyong Hye JOUNG ; Ju Hee LEE ; Koon Soon KIM ; Hyun Jin KIM ; Bon Jeong KU ; Minho SHONG ; Hyon Seung YI
Endocrinology and Metabolism 2018;33(3):380-386
BACKGROUND: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing. METHODS: We evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function. RESULTS: Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect by PolyPhen-2 software. CONCLUSION: We detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.
Aged
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Exome
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Female*
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Humans
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Korea
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Leukocytes
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Mutation, Missense
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Osteoclasts
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Osteopetrosis*
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Osteosclerosis
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Pelvis
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Skeleton
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Skull
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Spine
9.SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review.
Ting ZHOU ; Caixia ZENG ; Qiong XI ; Zuocheng YANG
Journal of Central South University(Medical Sciences) 2021;46(1):108-112
A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of SNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literatures and found that anemia, visual and hearing impairment, hepatosplenomegaly are the main clinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, and hematopoietic stem cell transplantation is an effective treatment.
Bone Density
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Child
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Hematopoietic Stem Cell Transplantation
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Humans
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Mutation
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Osteopetrosis/genetics*
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Sorting Nexins/genetics*
10.Lessons Learned from Long-Term Management of Hip Fracture in Patients with Osteopetrosis: A Report of Nine Hips in Five Patients
Jae Young LIM ; Boo Seop KIM ; Byung Ho YOON ; Jae Suk CHANG ; Chan Ho PARK ; Kyung Hoi KOO
Journal of Bone Metabolism 2019;26(3):201-206
BACKGROUND: Treating patients with osteopetrosis is very challenging even in very skilled surgeons with many experiences. We present an account of 5 patients treated for hip fracture related problems occurring throughout their life due to this disease. Difficulties encountered during their treatment prompted us to present some general management principles. METHODS: From January 2003 to December 2016, 5 patients with osteopetrosis (9 hips; 3 men, 2 women), who underwent operative or conservative treatment were retrospectively reviewed. We evaluated their clinical features and rate of union, malunion and post-operative infection. RESULTS: Four of 5 patients (80%) suffered bilateral fracture, and 8 of 9 fractures (89%) are transverse and occurred at subtrochanteric area resulted from minor trauma. Among 9 hips, surgery was performed in seven hips. Nonunion were found in 3 hips (33%), malunion in 1 hip (11%) and oteomyelitis was developed in 2 hips (22%) at a median of 8.1 years. CONCLUSIONS: Clinical features of hip fracture in osteopetrosis are very similar to atypical subtrochanteric femoral fractures. Patients should be informed of the possibilities of several anticipated complications including the risk of nonunion and infection after surgery.
Femoral Fractures
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Fracture Fixation, Internal
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Hip Fractures
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Hip
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Humans
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Male
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Osteopetrosis
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Retrospective Studies
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Surgeons