Total hip arthroplasty for the treatment of a hip disorder complicated by autosomal dominant osteopetrosis: a case report.
Ontology highlight
ABSTRACT:
SUBMITTER: Wei C
PROVIDER: S-EPMC10392520 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
Publications
Total hip arthroplasty for the treatment of a hip disorder complicated by autosomal dominant osteopetrosis: a case report.
The Journal of international medical research 20230701 7
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. ...[more]
Similar Datasets
Project description:Introduction and importance Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of mild osteopetrosis associated with TCIRG1 have been reported recently. In this study we report a rare case of non-malignant TCIRG1-associated osteopetrosis, with detail clinical characterization, genetic analysis and underwent successful total hip replacement surgery. Case presentation 24-year-old female patient came to us with limp gait, hip pain in both sides, severe stiffness. She suffered multiple fractures, bilateral hip osteoarthritis, right leg was 2 cm shorter compared with left leg. The patient had a limp gait due to severe pain and leg length discrepancy. Clinical discussion Whole Exome Sequencing, result of genetic analysis shown the patient had a compound heterozygous genotype at TCIRG1 (c.1194dup, p.Gly399ArgTer and c.334G > A, p.Gly112Arg). Total hip replacement was performed. The joint exposure and femoral canal reaming was difficult due to complete deformity of femoral head, loss of canal and high bone density. Post-operation period was uneventful; the patient rehabilitated as planned without further complication. Conclusion This is the first case of TCIRG1-associated osteopetrosis reported in Vietnam and one of the few cases of non-malignant TCIRG1-associated osteopetrosis. This case report suggests that total hip replacement is a viable option for the treatment of hip osteoarthritis in patients with mild form osteopetrosis. Highlights • This is the first case of TCIRG1-associated osteopetrosis reported in Vietnam with clinical and genetic workup.• This study detailed the surgical processes as well as the rehabilitation period of a patient with mild form of osteopetrosis.• Total hip arthroplasty is a feasible option for the treatment of hip osteoarthritis in osteopetrosis patients• High bone density, brittle/fragile bone, deformed acetabulum, narrow or sealed femoral canal leads to difficulty in surgery.
| S-EPMC9178469 | biostudies-literature
Project description:A 53-year-old patient with a history of Loeys-Dietz syndrome (LDS) presented with cutout after a right femoral neck fracture treated with a dynamic hip screw. This was treated with conversion total hip arthroplasty (THA), the second reported THA in a patient with LDS and the first in a post-traumatic reconstruction setting. The patient had 2 episodes of posterior hip dislocations within 2 weeks after the operation requiring a revision THA utilizing dual-mobility bearing to achieve stability. LDS is a connective-tissue disorder that is associated with joint hypermobility and spinal deformities, among other features. These factors can affect hip pathology, approaches to treatment, and outcomes. Patients with LDS should have a comprehensive musculoskeletal evaluation and history such as those with Marfan syndrome or Ehlers-Danlos syndrome, especially if undergoing THA. Further research on the implications of LDS on the hip and spine should be performed.
| S-EPMC7772454 | biostudies-literature
Project description:BACKGROUND Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts. Approximately, 80% of autosomal dominant osteopetrosis type II (ADO-II) patients were usually affected by heterozygous dominant mutations in the chloride voltage-gated channel 7 (ClCN7) gene and present early-onset osteoarthritis or recurrent fractures. In this study, we report a case of persistent joint pain without bone injury or underlying history. CASE SUMMARY We report a 53-year-old female with joint pain who was accidentally diagnosed with ADO-II. The clinical diagnosis was based on increased bone density and typical radiographic features. Two heterozygous mutations in the ClCN7 and T-cell immune regulator 1 (TCIRG1) genes by whole exome sequencing were identified in the patient and her daughter. The missense mutation (c.857G>A) occurred in the CLCN7 gene p. R286Q, which is highly conserved across species. The TCIRG1 gene point mutation (c.714-20G>A) in intron 7 (near the splicing site of exon 7) had no effect on subsequent transcription. CONCLUSION This ADO-II case had a pathogenic CLCN7 mutation and late onset without the usual clinical symptoms. For the diagnosis and assessment of the prognosis for osteopetrosis, genetic analysis is advised.
| S-EPMC9923847 | biostudies-literature
Project description:Total hip arthroplasty (THA) is a common treatment for osteoarthritis and is also performed for other conditions, such as secondary arthritis due to developmental dysplasia of the hip. Various THA types may be complicated by osteolysis and an inflammatory pseudotumor due to an adverse reaction to metal debris. Rarely, THA has been associated with malignant tumors, but their causality remains unclear. In this case report, we describe a female patient with developmental dysplasia of the hip. She had undergone left metal-on-polyethylene THA, acetabular revision of the THA, and left total knee arthroplasty. In addition, she had a history of dyslipidemia and telangiectasia of the eyes, anemia, hiatal hernia, and pleuritis. A THA-associated mass (suspected to be a pseudotumor) had been detected during a previous hospital admission due to pleuritis. She was hospitalized due to swelling in her left lower limb, fatigue, and bruises. A clinical examination revealed anemia, thrombocytopenia, and growth of the suspected pseudotumor. Within 6 weeks, she presented with bleeding of the oral mucosa, hemoptysis, melena, severe thrombocytopenia that did not respond to treatment, elevated D-dimer and C-reactive protein levels, severe pain, increased osteolysis, and fractures around the THA. Infection or malignancy was suspected, but two trocar biopsies suggested an inflammatory pseudotumor. Since her anemia and thrombocytopenia were considered to have been caused by an inflammatory process within the suspected pseudotumor, her suspected pseudotumor and all THA components were surgically removed. However, she developed severe alveolar hemorrhaging and hypoxia and died 2 weeks after her surgery. Histopathological analysis of her surgical and autopsy samples revealed highly malignant angiosarcoma. Although individual cases of malignancies associated with THA have been reported, the literature lacks a clear association between THA and increased cancer risk. Most pseudotumors are non-malignant. The patient's case presented in this report exemplifies the challenges to the differential diagnosis of a THA-associated pseudotumor and rare angiosarcoma. Atypically rapid tumor growth, severe osteolysis, and deterioration in the general wellbeing suggest a malignant disease.
| S-EPMC10423994 | biostudies-literature
Project description:BackgroundMycobacterium houstonense is a category of rapidly growing mycobacteria that is gram-positive, acid-fast, polycrystalline, and non-spore-forming. There have been few reports of human infection caused by Mycobacterium houstonense worldwide.Case presentationWe present a case of chronic periprosthetic joint infection caused by Mycobacterium houstonense in an elderly female patient. The patient developed signs of infection after undergoing total hip arthroplasty. Despite receiving antibiotic treatment and revision surgery, the signs of infection recurred repeatedly. Multiple bacterial cultures during the treatment period were negative. Later, we identified the pathogenic bacteria Mycobacterium houstonense through mNGS testing, isolated the bacteria from the ultrasonically centrifuged fluid of the prosthesis and obtained drug sensitivity results. Finally, we performed a revision surgery and treated the patient with moxifloxacin and clindamycin. After treatment, the patient did not show signs of infection recurrence during 24 months of follow-up.ConclusionThrough a relevant literature search, we believe that Mycobacterium houstonense may show higher sensitivity to amikacin and quinolone antibiotics. Additionally, clarifying occult infection sources through methods such as gene testing will improve the diagnosis and treatment of periprosthetic joint infection.
| S-EPMC10598912 | biostudies-literature
Project description:Hemophilia A is a congenital bleeding disorder caused by an X-linked hereditary pattern. Female hemophilia A carriers are usually asymptomatic, although some have far lower levels of clotting factor because more X chromosomes with the normal gene are switched off, a phenomenon referred to as "lyonization." During a medical checkup at our hospital, a 56-year-old Japanese woman with coxalgia was also diagnosed as an obligate hemophilia A carrier based on World Federation of Hemophilia criteria. She underwent total hip arthroplasty using blood product coagulation factor VIII to address her hemophilia. Immediate female relatives (mother, sisters, daughters) of a person with hemophilia should have their clotting factor levels checked, especially prior to any invasive intervention or childbirth, or if any symptoms occur.
| S-EPMC6541728 | biostudies-literature
Project description: Not available
| S-EPMC4916086 | biostudies-literature
Project description:Acromegaly is a rare disorder characterized by excess secretion of growth hormone and its principle mediator, insulin-like growth factor-1. Although acromegaly is frequently associated with osteoarthritis, the outcome of arthroplasty in this population is not documented.We report here a case of aseptic loosening of an uncemented total hip arthroplasty acetabulum in an acromegalic patient that was revised with a cemented cup. It has been suggested that the incidence of this complication is increased in other pathology with a similarly high bone-turnover (e.g., Paget's disease), but this complication has however not yet been reported in the setting of acromegaly.Although coincidence cannot be ruled out, multiple metabolic hypotheses could account for an altered osseointegration process in the presence of acromegaly, which could lead to a higher risk of loosening.
| S-EPMC5553848 | biostudies-other
Project description:Acute hip pain following total hip arthroplasty (THA) could have numerous causes to include stress fracture of the pelvis. Stress fractures of the pelvis are rare and have been reported to involve the medial wall and the pubic ramus. A unique case is presented demonstrating the clinical presentation and management of an acute stress fracture of ilium and anterior column following a THA.A 72-year-old man underwent an uncomplicated right THA. He was noted to have femoral head resorption and thin osteoporotic bone intraoperatively. He initially did well postoperatively and ambulating without pain or assistive devices. Within 1 month of surgery, he returned with acute right hip pain without any traumatic event. Radiographs showed migration of the acetabular component and computed tomography scan confirmed a fracture through the ilium. The patient underwent revision surgery, where the fracture was reduced and internal fixation was achieved with a reconstruction plate and acetabular cage construct. At 9 months postoperatively, the patient remained pain-free with full weight bearing and with stable radiographs.Elderly patients who undergo THA may have low bone mineral density. These patients can develop stress fractures in their pelvis after surgery. These fractures may involve the medial wall, posterior column, or posterior wall. In patients who develop atraumatic pain postoperatively, it is important to consider for potential stress fractures of the ilium and evaluate appropriately with imaging. In these cases, revision surgery can be necessary to provide fixation of the stress fracture.
| S-EPMC5553846 | biostudies-other
Project description:The migration of a prosthetic head during total hip arthroplasty (THA) is a rare complication. Few cases are described in the literature, offering different solutions and surgical approaches for prosthetic head retrievement. Here, we present a case of successful laparoscopic transperitoneal retrieval of a prosthetic head migrated above the right iliac vein after THA with a posterolateral approach.
| S-EPMC10413258 | biostudies-literature