Conversion Total Hip Arthroplasty in Patients With Osteopetrosis: Insights From Two Unique Cases.

CASE: Two patients with osteopetrosis underwent conversion total hip arthroplasty (THA) after failure of internal fixation due to hip fractures. We experienced challenges, including difficulty of hardware removal, remaining of previous broken screws in the canal, difficulty in finding the femoral canal, and an intraoperative acetabulum fracture. Despite complications, both patients achieved satisfactory functional outcome after surgery at the latest follow-up. CONCLUSION: Our cases showed that previous hip fracture and failed internal fixation make conversion THA more complex and unpredictable in patients with osteopetrosis. This in turn underscores the critical need for advanced preoperative planning, intraoperative flexibility, and meticulous postoperative care.

Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report.

BACKGROUND: Osteopetrosis comprises a group of inherited disorders that are rare and result in abnormal bone structure. Bone remodeling is extremely inhibited because osteoclasts are nonfunctional or lacking. This condition causes overgrowth of bone with disappearance of the bone marrow, leading to aplastic anemia; obstruction of nerve passages in the skull leads to blindness and often hearing impairment. In most cases, osteopetrosis results in oral complications such as tooth deformation, hypomineralization, and delayed or absent tooth eruption. The only curative treatment is hematopoietic stem cell transplantation (HSCT). The main treatment of the oral complications during childhood and adolescence consists in protecting the erupted teeth against caries disease through prophylactic treatment aimed at optimal oral hygiene through frequent regular dental visits throughout life. Many patients with osteopetrosis require major oral rehabilitation to treat complications of the disease. Improved results of HSCT increase the likelihood that dental professionals will encounter patients with osteopetrosis. CASE PRESENTATION: In this case report, we show that individuals with osteopetrosis who have severe oral complications can be treated successfully if they are treated for osteopetrosis at an early age. The boy had his dental care in pedodontics, and regular multidisciplinary meetings were held for future treatment planning. At the age of 15, he was then referred for rehabilitation. The initial evaluations revealed no further growth in the alveolar bone. The rehabilitation was done stepwise, with extraction of malformed and malpositioned teeth. Initially, the patient received a removable partial denture followed by reconstruction of the width of the alveolar process, titanium implants, temporary fixed bridges, and finally screw-retained titanium-ceramic bridges with titanium frames for the upper and lower jaws. CONCLUSIONS: The three-year follow-up after loading indicated a stable marginal bone level and optimal oral hygiene as a result of frequent professional oral hygiene care. The patient showed no signs of symptoms from the temporomandibular joint and has adapted to the new jaw relation without any functional or phonetical issues.

Total hip arthroplasty for the treatment of a hip disorder complicated by autosomal dominant osteopetrosis: a case report.

Autosomal dominant osteopetrosis (ADOP) is an extremely rare congenital bone disease. We report a case of a hip disorder in combination with ADOP, which was treated by total hip arthroplasty, resulting in a good recovery and a significant improvement in the patient's ability to perform daily activities.

Worth Syndrome-Patient Report, Diagnostic Work-Up, and Surgical Management of a Rare Craniofacial Entity.

Worth syndrome is a rare genetic bone disorder that often presents with cortical thickening of the mandible and an increase in mandibular width. The authors report the preoperative considerations in a young female with Worth syndrome, operative planning, and successful mandibular reduction using cutting guides.

[Minimally Invasive Direct Coronary Artery Bypass in a Patient with Osteopetrosis and Symptomatic Ischemic Heart Disease:Report of a Case].

Osteopetrosis is a heterogeneous group of heritable conditions. It varies greatly in severity, and fracture treatment remains a matter of controversy due to altered responses to fixation and the risk of osteomyelitis. Therefore, sternotomy outcomes in this condition are unclear. We report the case of a patient with osteopetrosis and coronary artery disease (CAD). A 78-year-old man with osteopetrosis presented with frequent chest pain. Coronary angiography revealed two-vessel CAD. Percutaneous coronary intervention was contraindication because of coronary aneurysm in the left main trunk. Considering risks in median sternotomy, we performed minimally invasive cardiac surgery through left minithoracotomy for coronary artery bypass grafting( CABG). But we needed to break the left fourth rib to obtain sufficient surgical views. To the best of our knowledge, this is the first case report on CABG for a patient with osteopetrosis and endoscopic surgery without rib retractor is recommended.

Prosthetic Management of Albers-Schönberg Disease with Osteomyelitis: A 10-Year Follow-up Case Report.

Albers-Schönberg disease is a rare bone syndrome characterized by increased bone density and infectious complications after dental extraction or minor surgery. The prosthodontic management of such edentulous patients with osteomyelitis is very challenging and requires special strategies due to a high risk of failure and worsening of the condition. This clinical report describes the rehabilitation of a 31-year-old edentulous woman presenting with Albers-Schönberg disease, secondary chronic osteomyelitis, maxillary hypoplasia, compromised oral conditions, temporomandibular disorders, and psychologic distress. The treatment included a mandibulectomy and removable prostheses. A crucial element for the successful long-term treatment and quality of life improvement observed in this patient was the 1-year transitional phase with interim dentures and frequent follow-up appointments. The complications and management proposed during a 10-year follow-up are presented. Int J Prosthodont 2023;36:642-648.

A successful implant-supported fixed prosthesis in a patient with osteopetrosis: A clinical report.

Osteopetrosis (marble bone disease) is a family of rare genetic disorders characterized by impaired osteoclast function leading to hyperdense, hypovascular, brittle bone. Typical imaging shows increased bone mass and thickened cortical and trabecular bone. Bones are more prone to fracture and osteomyelitis may develop. When considering dental implant placement in a patient with osteopetrosis, the potential for bony fracture and/or osteomyelitis should be considered along with the decreased likelihood of successful osseointegration because of hypovascularity. This clinical report describes an unusual imaging presentation and successful osseointegration of multiple dental implants supporting an implant-supported fixed mandibular prosthesis with long-term survival.

Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease.

BACKGROUND: Osteopetrosis is an uncommon inherited disease marked with elevated bone density and frequent bone fractures owing to flawed osteoclast activity. Autosomal dominant osteopetrosis type 2 (ADO-2), a benign form of osteopetrosis, is also known as Albers-Schonberg disease. CASE PRESENTATION: We report the first successful anterior cruciate ligament (ACL) reconstruction surgery for ACL rupture treatment in a 30-year-old female with ADO-2, who carried a heterozygous missense mutation c.2227C > T (p.Arg743Trp) in exon 23 of the chloride channel 7 (CLCN7) gene. Histopathological analysis of the ruptured ACL sample revealed massive calcium salt deposition in the ligament tissue. A ligament advanced reinforcement system (LARS) artificial ligament was employed in her ACL reconstruction surgery. At her final 16 month's follow-up, she reported no knee instability symptoms and other complications. The range of motion of the affected knee was good. The side-to-side difference in knee laxity, as evidenced by a KT-1000 arthrometer was 0.9 mm. The Lysholm score improved from 45 before operation to 83 after operation. The Tegner activity score improved from 1 before operation to 4 after operation. CONCLUSIONS: Our findings further confirmed that the newly identified mutated locus (p.Arg743Trp) may lead to acid secretion disorders at different sites (including calcified ACL in our case). In terms of clinical treatment, ligament reconstruction surgery in patients with Albers-Schonberg disease presents a unique challenge to orthopedic surgeons and requires further preparation and time.

Longstanding Nonunion of Metatarsal Fractures in an Adult Patient with Autosomal Dominant Osteopetrosis: A Case Report.

CASE: Osteopetrosis is a genetic condition that impairs bone turnover as the result of defects in osteoclast function and abnormal ossification of bone. Autosomal dominant osteopetrosis is often mild; however, the impaired fracture healing, increased density, and hardness of osteopetrotic bone present technical challenges for surgeons leading to complications with both nonoperative and operative treatment modalities. In this case report, we describe a patient treated empirically with ultrasonic bone stimulation for nonunion of fractures of multiple metatarsals after a failure of conventional therapy. CONCLUSION: Ultrasonic bone stimulation may have a role in optimizing nonoperative management of osteopetrosis-related fractures in adults.

Total Hip Arthroplasty in Patients With Osteopetrosis.

BACKGROUND: Osteopetrosis is an inherited bone disease associated with high risk of osteoarthritis and fracture non-union, which can lead to total hip arthroplasty (THA). Bone quality and morphology are altered in these patients, and there are limited data on results of THA in these patients. The goals of this study were to describe implant survivorship, clinical outcomes, radiographic results, and complications in patients with osteopetrosis undergoing primary THA. METHODS: We identified 7 patients (9 hips) with osteopetrosis who underwent primary THA between 1970 and 2017 utilizing our total joint registry. The mean age at index THA was 48 years and included two males and five females. The mean follow-up was 8 years. RESULTS: The 10-year survivorship free from any revision or implant removal was 89%, with 1 revision and 1 resection arthroplasty secondary to periprosthetic femoral fractures. The 10-year survivorship free from any reoperation was 42%, with 4 additional reoperations (2 ORIFs for periprosthetic femoral fractures, 1 sciatic nerve palsy lysis of adhesions, 1 hematoma evacuation). Harris hip scores significantly increased at 5 years (P = .04). Five hips had an intraoperative acetabular fracture, and 1 had an intraoperative femur fracture. All postoperative femoral fractures occurred in patients with intramedullary diameter less than 5 mm at a level 10 cm distal to the lesser trochanter. CONCLUSION: Primary THA in patients with osteopetrosis is associated with good 10-year implant survivorship (89%), but a very high reoperation (58%) and periprosthetic femoral fracture rate (44%). Femoral fractures appear associated with smaller intramedullary diameters.

Intramedullary nailing for subtrochanteric fracture in autosomal dominant Type II osteopetrosis: Case report of 2 patients.

RATIONALE: Autosomal dominant type II (AD II) osteopetrosis is a rare inheritable metabolic bone disease characterized by hard but brittle bone and a narrow medullary canal. Intramedullary nailing (IMN) is a difficult but attractive option for the treatment of subtrochanteric fractures in patients with AD II osteopetrosis. PATIENT CONCERNS AND DIAGNOSIS: Two patients with AD II osteopetrosis sustained subtrochanteric fractures after a fall. INTERVENTIONS: IMN was performed through the sequential use of instruments such as a 4.9-mm drill bit, small reamer, and larger reamer for over-reaming. OUTCOMES: In the first case, IMN left some gap at the fracture site. Dynamization was performed to treat the delayed union at 6 months postoperatively. The fracture healed at 10 months after the dynamization. In the second case, IMN was successful without a gap, and the fracture healed at 8 months. LESSONS: Although IMN is difficult to perform owing to partial obliteration of the medullary canal in AD II osteopetrosis, it can be performed with sequential widening of the medullary canal using various instruments. In addition, the fracture gap should not be left uncorrected during IMN to attain fracture union.

Mid-term outcomes of surgical treatment in fractures in patients with osteopetrosis.

AIMS: Osteopetrosis (OP) is a rare hereditary disease that causes reduced bone resorption and increased bone density as a result of osteoclastic function defect. Our aim is to review the difficulties, mid-term follow-up results, and literature encountered during the treatment of OP. METHODS: This is a retrospective and observational study containing data from nine patients with a mean age of 14.1 years (9 to 25; three female, six male) with OP who were treated in our hospital between April 2008 and October 2018 with 20 surgical procedures due to 17 different fractures. Patient data included age, sex, operating time, length of stay, genetic type of the disease, previous surgery, fractures, complications, and comorbidity. RESULTS: The mean follow-up period was 92.5 months (25 to 140). Bony union was observed in all of our patients. Osteomyelitis developed in two patients with femoral shaft fractures, and two patients had peri-implant stress fractures. CONCLUSION: Treatment of fractures in OP patients is difficult, healing is protracted, and the risk of postoperative infection is high. In children and young adults with OP who have open medullary canal and the epiphyses are not closed, fractures can be treated with surgical techniques such as intramedullary titanium elastic nail (TENS) technique or fixation with Kirschner (K)-wire. Cite this article: Bone Joint J 2020;102-B(8):1082-1087.

Hangman's Fracture in a Child with Osteopetrosis.

BACKGROUND: We report a rare case of Hangman's fracture in a male child with osteopetrosis. CASE DESCRIPTION: A 7-year-old boy was earlier diagnosed to have 'osteopetrosis'. He presented with neck pain, restriction of neck movements and quadriparesis following a fall while playing at home. Investigations revealed fracture of the bilateral C2 pars interarticularis. Goel technique of lateral mass plate and screw fixation was done on one side and a C2 pedicular screw fixation that traversed across the fracture line was performed on the contralateral side. The patient recovered rapidly in all symptoms following surgery. CONCLUSION: Osteopetrosis can be a rare cause of Hangman's fracture.

Bilateral Girdlestone Procedure as a Treatment Modality in a Case of Complicated Adult-Onset Osteopetrosis: A Case Report.

CASE: We describe a nonambulatory 39-year-old man who presented with a diagnosis of osteopetrosis and ankyloses, having experienced bilateral fractures of his proximal femora, undergone unsuccessful conventional surgical interventions, and having developed chronic osteomyelitis of his right proximal femur. Bilateral Girdlestone procedures were performed. Postoperative range of hip motion and Harris hip scores improved, and he became ambulatory, achieving optimal function considering the circumstances at 12 months postoperatively. CONCLUSIONS: Although the indications of the bilateral Girdlestone procedure remain undefined, these procedures may constitute acceptable treatment in patients with osteopetrosis with ankylosis and chronic osteomyelitis of the proximal femur.

Osteopetrosis-Anesthetic Considerations for Total Knee Arthroplasty: A Case Report.

Autosomal dominant or benign osteopetrosis is a rare genetic disorder of osteoclasts that results in dense but brittle bone structures. Patients with osteopetrosis may be scheduled for total knee arthroplasty to treat painful and functionally limiting osteoarthrosis. A search of the published literature produced no citation concerning anesthesia for patients with autosomal dominant osteopetrosis undergoing total knee arthroplasty. We present a case report detailing our experience and discuss considerations for the care of future patients with autosomal dominant osteopetrosis.

Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter.

PURPOSE: To investigate the difference in the optic canal diameter between children with autosomal recessive malignant infantile osteopetrosis and normal children, and to assess the influence of hematopoietic stem cell transplantation on the optic canal diameter. METHODS: Twenty pediatric patients with malignant infantile osteopetrosis and 22 normal control children were included in this study. Eleven patients with malignant infantile osteopetrosis underwent hematopoietic stem cell transplantation. The measurements included optical canal diameter and flash visual evoked potential. Comparisons of these measurements between patients with malignant infantile osteopetrosis and normal controls as well as before and after hematopoietic stem cell transplantation were performed. The correlation between age and optic canal diameter was analyzed using Pearson correlation analysis. RESULTS: The mean optic canal diameter before hematopoietic stem cell transplantation was 1.65 ± 0.54 mm in patients with malignant infantile osteopetrosis and 3.38 ± 0.60 mm in the control group (P < .001). The mean optic canal diameter after hematopoietic stem cell transplantation was 2.72 ± 0.66 mm, which was significantly different from the pre-transplantation measurement (P < .001). The P2 latency for the flash visual evoked potential after hematopoietic stem cell transplantation (152.3 ± 36.4 ms) was significantly less than that before transplantation (165.5 ± 27.7 ms; P = .051). Pearson correlation analysis revealed a significant correlation between age and optic canal diameter (r = 0.722, P < .001). CONCLUSIONS: The optic canal was narrower in pediatric patients with malignant infantile osteopetrosis than in age-matched normal controls. This condition can be relieved through hematopoietic stem cell transplantation and the impaired conductibility of the optic nerve can be improved in some cases. [J Pediatr Ophthalmol Strabismus. 2019;56(1):35-42.].

Management of early-onset hip osteoarthritis in an adolescent patient with osteopetrosis tarda: a case report.

Osteopetrosis (OP) is a group of rare sclerosing bone dysplasia characterized by increased bone density. The benign autosomal dominant form is the most common type. It typically carries a full life expectancy, despite increased propensity for fractures and other musculoskeletal problems, particularly hip osteoarthritis. In the current literature, the youngest OP patient having hip osteoarthritis is 16 years of age and treated with total hip arthroplasty. Within the present study, a 16-year-old female patient with early-onset hip osteoarthritis treated with hip joint debridement and femoral head reshaping is presented. The pain relieved and hip joint movements recovered to almost normal range. At the final follow-up at 2 years after the surgery, the patient was still free of pain and ambulating without restriction. Hip joint debridement and femoral shaping may be beneficial in hip osteoarthritis secondary to OP in adolescents, and may delay hip arthroplasty in a young age.

Experiencia de una década en niños sometidos a esplenectomía en el Hospital Nacional de Niños / Experience on children's splenectomy: a ten year single center retrospective study

Resumen Objetivo: describir las características clínicas y la evolución de los pacientes sometidos a esplenectomía en el Hospital Nacional de Niños, de enero de 1996 a diciembre del 2006. Métodos: este es un estudio descriptivo retrospectivo que analiza un periodo de 10 años, de pacientes sometidos a esplenectomías en el Hospital Nacional se Niños. Se realizó una revisión de 107 expedientes con el diagnóstico en cuestión. De estos expedientes se obtuvieron: datos clínicos, epidemiológicos, indicaciones para el procedimiento y su respectiva evolución, complicaciones y mortalidad asociada. Se analiza además el seguimiento de las recomendaciones con respecto a profilaxis antibiótica y vacunación. Resultados: se analizó una muestra total de 107 casos. Entre los resultados se encontró que la edad promedio de intervención fue de 6,4 años. Los diagnósticos más comunes fueron hemoglobinopatías (59,8 %), púrpura trombocitopénica idiopática (16,8 %) y osteopetrosis maligna (8,4 %). Entre las indicaciones para esplenectomías predominaron el tratamiento de enfermedad de base (39,9%), hiperesplenismo (26,2 %) y ausencia de respuesta al tratamiento médico (22,4 %). El procedimiento quirúrgico más común fue la laparotomía en el 87,9 % de los casos. La complicación quirúrgica inmediata más frecuente fue la hemorragia persistente (3,7 %), mientras que la complicación quirúrgica tardía más común fue la sepsis (16,8 %). La respuesta terapéutica en la mayoría de los pacientes fue completa (66,7 %). Hubo 5 pacientes fallecidos, de los cuales en dos se relacionó su mortalidad con sepsis. La edad promedio al momento de fallecimiento fue de 6,7 años. Conclusiones: la esplenectomía es una alternativa para el tratamiento de las enfermedades médicas, tras la cual se evidenció una respuesta satisfactoria en la mayoría de los casos del estudio.

Abstract Aim: to describe clinical characteristics and evolution of patients who underwent splenectomy in Costa Rica's National Children's Hospital during January 1996 through December 2006. Methods: This is a chart review study in a 10 year period including children who underwent splenectomy. A hundred and seven charts of children with ages between 0 and 18 years old were reviewed to obtain their clinical presentation, characteristics, indications for splenectomy, follow up, complications and mortality. Also the antibiotic prophylaxis and immunization schedule was analyzed based on international recommendations. Results: A total of 107 patients were included. Results showed that the mean age at which splenectomy was performed was 6.4 years. Most of the patients had their splenectomy due to hemoglobinophaties (59.8%), followed by immune thrombocytopenic purpura (16.8%) and malignant osteopetrosis (8.4%). The most common indications for splenectomy were treatment of the disease (39.9%), hyperesplenism (26.2%) and lack of responde to medical treatment (22.4%). Laparotomy was the most performed surgery (87.9%). Mainly sepsis and hemorrhage were found as complications due to procedure. Overall, complete response to surgical treatment was observed (66.7%). Five patients died during follow up. Conclusions: Splenectomy is an alternative for treating medical disease with predominantly good outcomes observed in our study.

An Exceptional Neurosurgical Presentation of a Patient with Osteopetrosis.

BACKGROUND: Osteopetrosis (OP) is a varied clinical condition caused by malfunction or insufficient development of osteoclasts, or both. Neurologic findings can occur because of osteopetrotic conditions restricting neural foramina through which the spinal cord, cranial nerves, or major vascular structures traverse the skull. Renal tubular acidosis (RTA) is a well-documented condition with OP. However, Chiari I malformation is rarely reported concomitantly with OP. CASE DESCRIPTION: We present a patient with a known RTA who was admitted with a rapid progressive tetraparesis within 24 hours. Clinical and radiologic evaluation of the patient revealed OP with RTA together with Chiari I malformation and holocord hydromyelia. Management of the patient was started with correction of severe hypokalemia (K: 1.4 mEq/L), which resulted in dramatic improvement in tetraparesis. Two days later, a posterior fossa bone decompression with ventriculoperitoneal shunt placement during the same session led to prominent decrease in size of the ventricles and the hydromyelia on long-term follow-up. CONCLUSIONS: Patients with OP can exhibit many clinical conditions. However, our case involved an unusual and rapid progressive tetraparesis, which could confuse the management as necessitating an emergent posterior fossa decompression. Stabilizing the metabolic status of the patient facilitated elective surgery, which further improved patient's neurologic findings and diminished hydromyelia on long-term follow-up.