Autosomal Dominant Type I Osteopetrosis Is Related with Iatrogenic Fractures in Arthroplasty

Autosomal dominant osteopetrosis (ADO) is a sclerotic bone disorder due to failure of osteoclasts. ADO poses difficulties during arthroplasty because of the increased chance for iatrogenic fractures due to sclerotic bone. ADO is divided into two types based on radiological findings, fracture risk, and osteoclast activity. These differences suggest less brittle bone in patients with ADO I compared to that of patients with ADO II, which suggests a smaller chance of preoperative fractures during cementless arthroplasty in ADO I compared with that in ADO II. A case of cementless total knee arthroplasty in a patient with ADO I is presented. Total hip arthroplasty was performed during follow-up, and known major problems related to ADO II were experienced. Therefore, the differences between ADO I and ADO II may not be clinically relevant for an iatrogenic fracture during arthroplasty in patients with ADO.

Osteopetrosis: reporte de un caso en paciente de 20 años / Osteopetrosis: a case report in a 20 years old patient

Introducción: El concepto de Osteopetrosis agrupa un conjunto de enfermedades óseas caracterizadas por aumento de la densidad ósea, debido a una disfunción osteoclástica. Esto determina una insuficiente resorción ósea, provocando un aumento en la densidad ósea, osteoesclerosis generalizada, disminución de la resistencia ósea e incluso supresión de la médula ósea. Presentación del caso: Paciente de sexo masculino, de 20 años de edad, antecedentes de consanguinidad, con diagnóstico de osteopetrosis. Se destacan hidrocefalia, retraso del desarrollo psicomotor, anopsia bilateral, fracturas reiteradas, osteomielitis maxilar bilateral crónica e hipoplasia medular. Consulta frecuentemente por episodios reiterados de diátesis hemorrágica (epistaxis y gingivorragia). Radiografías revelan aumento de la densidad ósea, deformidades y esclerosis ósea difusa. Discusión: Llama la atención la prolongada sobrevivencia de este paciente, mantenido con transfusiones de eritrocitos y plaquetas frente a cada episodio hemorragíparo. Conclusiones: El diagnóstico precoz y tratamiento oportuno evitarán alteraciones irreversibles, optimizando la calidad de vida de los pacientes y sus familias.

Introduction: Osteopetrosis refers to a group of bone diseases characterized by increased bone density due to osteoclast dysfunction. This leads to insufficient bone resorption, leading to increased bone density, generalized osteosclerosis, decreased bone strength and even bone marrow suppression. Case report: Man 20 years old, history of consanguinity, diagnosticated with osteopetrosis. Stands out hydrocephalus, psychomotor developmental delay, bilateral anopsia, repeated fractures, chronic bilateral maxillary osteomyelitis, and bone marrow hypoplasia. Frequently consult by repeated episodes of hemorrhagic diathesis (epistaxis and gingivorrhagia). X-rays revealed increased bone density, bone deformities and diffuse osteosclerosis. Discussion: Calls the attention the prolonged survival of this patient, maintained with red cell and platelets transfusions after each bleeding episode. Conclusions: Early diagnosis and prompt treatment prevent irreversible damage, optimizing quality of life of patients and their families.

Osteoporosis related simultaneous four joints fractures associated with seizure

A case of steroid induced osteoporosis associated with multiple fractures and dislocations after a seizure is reported. The patient had two years history of steroid, given for aplastic anemia, no supplement or anti-resorptive therapy was given. The patient suffered simultaneous bilateral femoral neck fractures, bilateral shoulder surgical neck fracture dislocations and a Smith's fracture after one episode of seizure. Bone mineral density showed severe osteoporosis with T score of-2.9. There was a delay in the diagnosis which affected an otherwise good outcome in such situation. It is recommended that patients on steroid should be given calcium, vitamin D, and an anti-resorptive. Furthermore, a meticulous clinical examination is required in patients who are on steroids and suffer from epileptic seizures to rule out skeletal injury

Epifisiolisis en un paciente con osteopetrosis: reporte de un caso clínico y revisión de la literatura / Slipped capital femoral epiphysis in a patient with osteopetrosis: case report and literature review

A case report of an 8 years old patient with Osteopetrosis and a Slipped Capital Femoral Epiphysis is presented. Along with a literature review (where there are only two reports of this pathology) the diagnosis methods and treatment are displayed. Clinical results, x-rays and MRI are exhibited.

Se presenta un caso de Epifisiolisis en un paciente de 8 años con el diagnóstico de Osteopetrosis. Junto con una revisión de la literatura, en que solamente se encuentran dos publicaciones con casos similares, se exhiben los métodos diagnósticos y el tratamiento realizado, así como sus resultados clínicos e imagenológicos.

Osteomyelitis in infantile osteopetrosis: a case report with review of literature.

Osteopetrosis is a rare genetic disorder that causes generalized sclerosis of bone due to a defect in bone resorption and remodeling. Dental abnormality may be attributed to pathological changes in bone remodeling. Osteomyelitis is well documented as a complication of osteopetrosis. This disease can be severe and difficult to treat in the osteopetrotic patient. This is a case of 10-year-old girl previously diagnosed as suffering from osteopetrosis and presenting with the complaint of swelling of jaw with extra-oral draining sinus.

Osteopetrosis with Arnold Chiari malformation type I and brain stem compression.

Osteopetrosis is a collective term for a range of sclerosing bone diseases resulting from an absence or defective function of osteoclasts. The clinical expression is variable and includes skeletal, hematological and neurological manifestations. The common neurological manifestation includes cranial neuropathies involving optic, cochlear, facial and trigeminal nerves. Spastic quadriplegia occurring as a result of brain stem compression in osteopetrosis is uncommon. The association of Type 1 Arnold Chiari malformation with osteopetrosis resulting in brain stem compression syndrome is an extremely rare entity.

Bilateral asynchronous humeral shaft fractures in a patient with autosomal dominant osteopetrosis type II (Albers-Schonberg disease).

Osteopetrosis is a rare metabolic disease which presents with fragile osteosclerotic bone. A thirteen-year-old girl with an underlying autosomal dominant osteopetrosis (ADO) type II who sustained a left oblique humeral shaft fracture after trivial trauma is presented. Radiographic results showed many characteristic features of osteopetrosis, including incomplete remodeling of a previous fracture of the contralateral humeral shaft. The authors obtained good healing and alignment of the left humeral shaft fracture by sugar tong slab.

Rickets in osteopetrosis--a paradoxical association.

Osteopetrosis is a hereditary bone disease with intense positive balance of body calcium. Infantile variety is often associated with rickets--a paradoxical association. Two siblings with osteopetro rickets are reported in the article. The pathophysiologic mechanism of the paradoxical association has been explained and various management options have been discussed. Both cases were treated with high dose calcitriol and calcium supplements.

Otolaryngological complications of osteopetrosis.

Osteopetrosis is a rare inherited bone disease that affects both humans and various mammals. The authors report on two cases of osteopetrosis with otolaryngological complications. One patient had the childhood form and presented with chronic otitis media and brain abscess. The second patient had the adult form and presented with sinusitis from tooth extraction which developed into chronic osteomyelitis of the maxillary bone.

Amaurose bilateral por osteopetrose congênita: relato de caso e revisäo da literatura / Bilateral amaurosis due to congenital osteopetrosis: case report and literature review

A osteopetrose congênita é uma rara desordem genética autossômica recessiva caracterizada por osso esclerótico associado a anormalidades hematológicas e neurológicas. Os autores fazem revisäo da literatura e relatam um caso de uma criança do sexo feminino com 2 anos e 5 meses de vida apresentando amaurose bilateral por osteopetrose congênita.

Osteopetrose: relato de dois casos e diagnostico por imagem / Osteopetrosis: report of 2 cases and image diagnosis

Os autores apresentam dois casos de osteopetrose com os principais achados imagenologicos do mesmo.

Informe de un caso de fractura de cuello femoral en un paciente portador de osteopetrosis / Report of a case: femoral neck fracture at

Se presenta un raro caso de osteopetrosis en un adolescente de 16 años, de raza mestiza, procedente y natural de Tumbes que viene para tratamiento de fractura patológica antígena de cuello de fémur M.I.I. Se trata de la forma begnina de osteopetrosis (autosómica dominante) sin antecedentes heredo-familiares, por que se concluye se trataría de una forma única de mutación. El tratamiento quirúrgico de la fractura fue infructífero en dos oportunidades, se emplearon en la primera un tornillo 11o AO de esponjosa, y en la segunda tres tornillos de Knowles, durante ambas se usó pelvipedio de yeso por dos y cuatro meses respectivamente, lo que se considera poco en relación al retardo de consolidadación que caracteriza a la enfermedad. En los dos casos no se logró la valgización del fragmento fracturado proximal, en la segunda oportunidad porque había reabsorción acentuada de fibrosis peri-ósea. Finalmente se logra formación del callo, sin evitar el varo de la cabeza mediante el empleo prolongado de pelvipedio de yeso (7 meses) y el uso de clavo trasfixante supracondíleo por espacio de 2 meses que evitará movimientos de rotación. Actualmente paciente con uso de muletas axilares con apoyo diferido. La enfermedad sistemática no requirió de tratamiento compensador.