No abstract available.
Osteopetrosis*

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 ; Calcium Carbonate ; Humans ; Osteopetrosis

Cord Blood Stem Cell Transplantation ; Female ; Humans ; Infant ; Osteopetrosis ; therapy

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 ; Child ; Congenital Abnormalities ; Extremities ; Female ; Femur ; Humans ; Optic Atrophy* ; Osteopetrosis* ; Rare Diseases ; Skull

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 ; Bone and Bones ; Bone Resorption ; Cytokines* ; Homeostasis ; Osteoclasts* ; Osteogenesis ; Osteopetrosis ; Osteoporosis

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 ; Fractures, Bone ; Head ; Humans ; Laminectomy ; Lower Extremity ; Neck ; Neurilemmoma ; Osteopetrosis ; Paresthesia ; Schwann Cells

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 ; Fractures, Bone ; Hallux ; Hallux Valgus ; Humans ; Korea ; Metatarsophalangeal Joint ; Osteopetrosis ; Osteotomy

Four boys (2 months to 8 years old) were diagnosed with autosomal recessive form of osteopetrosis. Symptoms manifested in the first few months of life in 3 patients, and there was family history in 1. Primary symptoms included anemia, thrombocytopenia, hepatosplenomegaly, failure to thrive, recurrent infectious history and macrocephaly. The typical radiological images on plain radiogram were diffuse sclerosis, bone modelling defects at the metaphyses of long bones, "bone-in-bone" appearance, and "sandwich" vertebrae. Bone marrow biopsy showed markedly reduced platelets. Osteopetrosis refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. Diffuse sclerosis leads to crowding of the bone marrow, resulting in anemia and extramedullary hemopoiesis. Hematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and offers the best chance of longer-term survival.
Child ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Osteopetrosis ; diagnosis ; diagnostic imaging ; Radiography

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 ; Fracture Fixation, Internal ; Hip Fractures ; Hip ; Humans ; Male ; Osteopetrosis ; Retrospective Studies ; Surgeons

Osteopetrosis is a very rare bone dysplasia characterized by failure of resorption and persistence of calcified chondroid and primitive bone. We have experienced: a familial osteopetrosis, father and three siblings out of seven, which was thought to be a autosonal dominant inheritance. One of those family, 18 years old body, has been complained of low back pain without radiating pain to the lower extremities. No other clinical symptoms has manifested. The other 3 patients has not been complained of any clinical symptom, but X-Ray examination of the entire skeletal survey of those members of the family have revealed the uniform opacity of long bones and flat bones. The normal architecture was altered, with no distinction between cortical and cancellous bone in all long bones. Histologic picture have noted the irregular patches of immature chondro-osseous tissue embedded in the matrix of coarse fiber bone with a wide and prominent cement line.
Bone Diseases, Developmental ; Clothing ; Fathers ; Humans ; Low Back Pain ; Lower Extremity ; Osteopetrosis ; Siblings ; Wills