Cystic Bone Lesions Research Articles

Excisional Curettage of Benign Cystic Lesions.

Treatment of benign cystic lesions of bone with the use of excisional curettage requires careful preoperative planning and patient positioning before the initial incision is made. The initial incision must be carefully planned to expose the entire lesion without violating multiple compartments unnecessarily. A sizeable cortical window must then be made using a high-speed burr followed by evacuation of all cystic contents via curettage. The cavity is copiously irrigated before an adjuvant is used, and the lesion is stabilized, if necessary, before closing. There are many types of alternatives to curettage, such as wide resection, radiation, and embolization of feeding vessels. In orthopaedics, as in all medical specialties, many interventions and techniques have been rendered obsolete and, ultimately, replaced by newer, safer, and more efficient ones. The appeal of curettage has remained because of its procedural simplicity and adaptability in the management of a plethora of diseases such as benign cystic lesions of bone. Additionally, curettage, unlike wide resection, radiation, and embolization of feeding vessels, is minimally invasive and often definitive in nature when used as a treatment modality2. Lastly, curettage grants the performing surgeon the ability to maintain a contained cavity that can be treated with a variety of adjuvant therapies3-17. These reasons listed above make curettage a viable option for the surgical treatment of benign cystic lesions such as giant cell tumors of bone, aneurysmal bone cysts, unicameral bone cysts, chondromyxoid fibromas, and symptomatic nonossifying fibromas.

Presentation Patterns, Diagnostic Modalities, Management Strategies, and Clinical Outcomes in Patients with Hydatid Disease of the Pelvic Bone: A Comparative Review of 31 Cases.

Hydatid disease is a parasitic zoonosis commonly caused by Echinococcus granulosus. It characteristically involves the liver and the lungs but rare occurrences in other organs have also been reported. Bone involvement is distinctly uncommon, which is predominantly a silent and slowly progressive disease with a long latent period. We conducted a systematic literature search of MEDLINE, Cochrane, Embase, and Scopus databases. After a comprehensive review of the search results, a total of 31 cases of hydatid disease of the pelvic bone fulfilled the inclusion criteria. The data on patient demographics, epidemiology, lesion site, management, clinical outcomes, and follow-up were collected and analyzed. This review illustrates that hydatid disease should be considered among the differential diagnoses of unusual cystic lesions of the pelvic bone. Prompt diagnosis and appropriate management are of paramount importance to prevent bone destruction and serious complications in these patients. Long-term follow-up should be performed for potential recurrence.

Pathological analysis of cystic lesions of the bones: a retrospective single-center 10-year overview

Objective: Many different neoplastic and non-neoplastic lesions involve the skeletal system. Clinical and radiological tools primarily assess the nature of these lesions.The aim of this study was to analyze the cystic bone lesions in a pathologic point of view. Methods: All bone cysts between 2002 and 2013 retrospectively evaluated under the guidance of clinical information and radiological images. Descriptive data such as age, gender, tumor site, symptoms, and clinical and radiological findings obtained from the hospital’s database system. Results: There were 96 cystic bone lesions; 47 were aneurysmal bone cysts (ABCs), 37 were simple bone cysts (SBCs), one was a lesion with features of both ABC and SBC, four were intraosseous ganglia, four were epidermoid cysts, and three were hydatid cysts. The mean ages of the patients with ABCs and SBCs were 18.7 ± 12.8 years (range, 3-75 years) and 23.8 ± 13.3 years (range, 3-62 years), respectively. Most of the lesions located in the long bones. Conclusions: Cystic lesions of the bone rarely encountered in daily pathology routine. As with all conditions affecting the skeletal system, one of the most important steps towards an accurate pathological diagnosis is to perform with clinical and radiological information while evaluating the patients.

Nasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family

Nasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family

Solitary Bone Cyst of the Proximal Humerus with a Concomitant Stiff Shoulder Treated with both Arthroscopic Capsular Release and Arthroscope-Assisted Resection of the Bone Cyst: A Case Report

Solitary bone cysts are benign bone lesions that usually occur in the humerus, calcaneus, and femur of children and adolescents. When present in adults, they are usually diagnosed as incidental findings. In this report, we present an adult case of a solitary bone cyst of the proximal humerus with concomitant refractory stiff shoulder treated with both arthroscopic capsular release and arthroscope-assisted resection of the bone cyst. A 73-year-old woman was referred with a complaint of persistent left shoulder pain and limited range of motion. Magnetic resonance imaging showed an approximately 4.5-cm long diameter cystic bone lesion from the humeral neck to the shaft. At first, arthroscopic synovectomy and pan-capsular release were performed. Next, two 1-cm skin incisions and 8-mm drill holes into the lateral wall of the cyst were created with fluoroscopic guidance. After insertion of the arthroscope through the holes, the white membranous cyst wall was resected with a shaver until bone marrow was observed. Finally, an 8-mm cannulated hydroxyapatite pin was inserted. This is a simple technique that allows direct visualization and complete resection of the cyst wall with two small incisions. Such a technique may be superior to conventional open procedures or those under image guidance.

Congenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation

BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst is one of the manifestations of CGL with AGPAT2 mutation. Patients usually have sclerotic bone lesions before and lytic bone lesions after puberty. Our patient had lytic bone lesions in (femur) long bones and also sclerotic lesions in the pelvic which was related to AGPAT2 mutation.ConclusionThe young female hadacral enlargement, hepatomegaly and both sclerotic and cystic bone lesions with AGPAT2 mutation.

Treatment of benign cystic lesions of bone with a composite of bone substitute and bone marrow

Background There are many methods for the treatment of unicameral bone cysts, which are benign cystic lesions seen in the metaphseal–diaphyseal region of long bones in growing children. Patients and methods Totally 20 patients, eight boys and four girls with a mean age of 10 years (range: 8–14 years), who had unicameral bone cysts were treated by curettage and a CaSO4–CaPO4 bone substitute mixed with bone marrow aspiration. The lesion size ranged from 2×4 to 3×7 cm. Results New bone formation was noted in all cases with residual defects in five cases ranging from 15 to 25%. No pathological fracture occurred in this study. Recurrence of the lesion occurred in one case and was treated by reoperation with another dose of CaSO4–CaPO4. Complications within this series included superficial infection with serous drainage 3 weeks postoperatively in two cases treated conservatively. Conclusion Early results of this study using the CaSO4–CaPO4 incorporated with bone marrow aspirate are promising in treating benign bone cysts with bone formation, which can stand for normal bone strength and low rate of complications.

Diaphyseal Tuberculosis of Tibia- Rare Occurrence: Case Report and Review of Literature

Skeletal tuberculosis is less common as compared to pulmonary tuberculosis. The incidence of Osteo articular tuberculosis is 1-3%. Of these, spine and hips involvement is more frequent. Long bones Diaphyseal tuberculosis incidence is extremely low even in endemic regions, but particularly in the Western countries. The paucity of specific nature of the symptoms usually results in a late diagnosis. The indolent nature of disease puts a great challenge to clinicians in diagnosing Diaphyseal tuberculosis of long bones accurately. Differential diagnosis of a solitary lesion in the diaphysis of the long tubular bone includes Brodie’s abscess, cystic bone lesions, bone tumors, chronic pyogenic osteomyelitis or fungal/bacterial granulomatous lesions. Because of such varied clinical and radiological presentations, the diagnosis requires a high index of suspicion and usually establishes through biopsy and culture. We reported this case to emphasize the unusual occurrence of long bones tubercles among immigrants to Western Countries as in our patient. A 25-year-old Man immigrant from Asia presented with chronic leg pain and swelling. He responded poorly to anti tuberculosis medical treatment due to noncompliance. His X-ray, CTscan and MRI Scans revealed a lytic lesion in lower shaft of tibia. Percutaneous CTguided biopsy of the lesion was done. Following curettage, tubercles osteomyelitis was diagnosed from obtained sample. Cementing of curettage cavity was done with newer version of antibiotic impregnated biodegradable cement. On Anti TB medical treatment, symptoms alleviated rapidly.

Aneurysmal Bone Cyst Arising from the First Rib: A Rare Cause of Thoracic Outlet Syndrome

Aneurysmal bone cyst is a rare benign cystic bone lesion with an incidence of only 0.14 per 100,000 individuals and most commonly affects the metaphyses of long bones, spine, and pelvis. We present a very rare case of a 17-year-old boy with a rapidly expanding aneurysmal bone cyst arising from the first rib, resulting in neurogenic thoracic outlet syndrome secondary to its compression of the brachial plexus. The patient's symptoms resolved after en bloc resection. To our knowledge there have been no other reports in the literature of thoracic outlet syndrome due to aneurysmal bone cyst arising from the first rib.

Endocytosed β2-Microglobulin Amyloid Fibrils Induce Necrosis and Apoptosis of Rabbit Synovial Fibroblasts by Disrupting Endosomal/Lysosomal Membranes: A Novel Mechanism on the Cytotoxicity of Amyloid Fibrils

Dialysis-related amyloidosis is a major complication in long-term hemodialysis patients. In dialysis-related amyloidosis, β2-microglobulin (β2-m) amyloid fibrils deposit in the osteoarticular tissue, leading to carpal tunnel syndrome and destructive arthropathy with cystic bone lesions, but the mechanism by which these amyloid fibrils destruct bone and joint tissue is not fully understood. In this study, we assessed the cytotoxic effect of β2-m amyloid fibrils on the cultured rabbit synovial fibroblasts. Under light microscopy, the cells treated with amyloid fibrils exhibited both necrotic and apoptotic changes, while the cells treated with β2-m monomers and vehicle buffer exhibited no morphological changes. As compared to β2-m monomers and vehicle buffer, β2-m amyloid fibrils significantly reduced cellular viability as measured by the lactate dehydrogenase release assay and the 3-(4,5-di-methylthiazol-2-yl)-2,5-diphenyltetrazolium bromide reduction assay and significantly increased the percentage of apoptotic cells as measured by the terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling method. β2-m amyloid fibrils added to the medium adhered to cell surfaces, but did not disrupt artificial plasma membranes as measured by the liposome dye release assay. Interestingly, when the cells were incubated with amyloid fibrils for several hours, many endosomes/lysosomes filled with amyloid fibrils were observed under confocal laser microscopy and electron microscopy, Moreover, some endosomal/lysosomal membranes were disrupted by intravesicular fibrils, leading to the leakage of the fibrils into the cytosol and adjacent to mitochondria. Inhibition of actin-dependent endocytosis by cytochalasin D attenuated the toxicity of amyloid fibrils. These results suggest that endocytosed β2-m amyloid fibrils induce necrosis and apoptosis by disrupting endosomal/lysosomal membranes, and this novel mechanism on the cytotoxicity of amyloid fibrils is described.

Outcome of humeral shaft fractures treated by functional cast brace.

Background:Functional brace application for isolated humeral shaft fracture persistently yields good results. Nonunion though uncommon involves usually the proximal third shaft fractures. Instead of polyethylene bivalve functional brace four plaster sleeves wrapped and molded with little more proximal extension expected to prevent nonunion of proximal third fractures. Periodic compressibility of the cast is likely to yield a better result. This can be applied on the 1st day of the presentation as an outpatient basis. Comprehensive objective scoring system befitting for fracture humeral shaft is a need.Materials and Methods:Sixty six (male = 40, female = 26) unilateral humeral shaft fractures of mean age 34.4 years (range 11–75 years) involving 38 left and 28 right hands were included in this study during April 2008 to December 2012. Fractures involved proximal (n = 18), mid (n = 35) and distal (n = 13) of humerus. Transverse, oblique, comminuted and spiral orientations in 18, 35 and 13 patients respectively. One had segmental fracture and three had a pathological fracture with cystic bone lesion. Mechanisms of injuries as identified in this study were road traffic accidents 57.6% (n = 38), fall 37.9% (n = 25). 12.1% (n = 8) had radial nerve palsy 7.6% (n = 5) had Type I open fracture. Four plaster strips of 12 layers and 5–7.5 cm broad depending on the girth of arm were prepared. Arm was then wrapped with single layer compressed cotton. Lateral and medial strips were applied and then after molding anterior and posterior strips were applied in such a way that permits full elbow range of motion and partial abduction of the shoulder. Care was taken to prevent adherence of one strip with other except in the proximal end. Limb was then put in loose collar and cuff sling intermittently allowing active motion of the elbow ROM and pendular movement of the shoulder. Weekly tightening of the cast by fresh layers of bandage over the existing cast brace continued.Results:The results were assessed using 100 point scoring system where union allotted 30 points and 60 points allotted for angulations (10), elbow motion (10), shoulder abduction (10), shortening (5), rotation (5), absence of infection (10), absence of nerve palsy during treatment (10). Remaining 10 points were allotted for five items with two points each. They were the absence of skin sore, absence of vascular problem, absence of reflex sympathetic dystrophy (RSD), recovery of paralyzed nerve during injury and recovery of paralyzed nerve during treatment. Results were considered excellent with 90 and above, good with 80–89, fair with 70–79 and poor below 70 point. Results at 6 months were excellent in 43.94% (n = 29), good in 42.42% (n = 28), fair in 9.1% (n = 6), poor in 4.55% (n = 3). Union took place in 98.48% (n = 65) with an average of 10.3 weeks (range 6–16 weeks). 87.5% (n = 7) paralyzed radial nerve recovered. All wounds healed. Four patients had transient skin problem. One patient with mid shaft fracture had nonunion due to the muscle interposition.Conclusion:Modified functional cast brace is one of the options in treatment for humeral shaft fractures as it can be applied on the 1st day of the presentation in most of the situations. Simple objective scoring system was useful particularly in uneducated patients.

Pulmonary Langerhans cell histiocytosis: A comprehensive analysis of 40 patients and literature review

BackgroundPulmonary Langerhans cell histiocytosis (PLCH) is a rare interstitial disease affecting primarily young adult smokers. In order to highlight the clinical features of the disease, we conducted a retrospective analysis on clinical data of PLCH patients followed at our center; moreover, we reviewed the current literature on PLCH. Method and resultsBetween January 2004 and July 2014, 40 patients with PLCH were evaluated at our Division. The average patients' age was 40 (±14) years, and 22 of them were females. Diagnosis was based on search of CD1a+ cells in the bronchoalveolar lavage (10 patients), lung biopsy (8 patients), or cystic bone lesion's biopsy (2 patients); in 12 patients, diagnosis was achieved on the basis of the clinical-radiological data.The principal manifestation of PLCH was the presence of cysts involving upper lung zones with costophrenic sparing on chest CT scan (in 25 patients); micronodular pattern in the middle-upper zone and combination of the two radiological patterns were less frequently observed (in 9 and 6 patients, respectively). Pulmonary hypertension was found in 4 patients. Extra pulmonary manifestations were diabetes insipidus, bone lesions, and skin involvement (in 5, 7, and 1 patient, respectively).For 25 patients, smoking cessation was the only required therapy. Treatments with low dose of prednisolone, vinblastine and prednisolone, or 6-mercaptopurin were reserved for patients with major pulmonary or extra-pulmonary involvement (for 11, 4, and 5 patients, respectively).In conclusion, PLCH is a rare, multi-systemic disease; early diagnosis, accurate staging and smoking cessation are considered critical in PLCH management.

Benign cystic bone lesions

Bone cysts are benign tumor-like lesions which often present as a fluid-containing cavity in the bone. They can occur in the skeletal bone as solitary or sometimes multiple bone lesions. This review discusses the diagnostics, radiological appearance and therapeutic strategies of the most important benign cystic bone lesions, such as simple bone cysts, aneurysmal bone cysts, intraosseous ganglia, epidermoid cysts and subchondral cysts. The differential diagnoses with respect to cystoid formations and tumors with cystic components are discussed. A selective literature search was performed taking own experiences into consideration. These tumor-like lesions can have the radiological appearance of bone tumors but show no autonomic, stimulus-independent growth and can resolve spontaneously. In the majority of cases open biopsy is necessary to confirm the diagnosis. In some cases no surgical intervention is necessary (e.g. do not touch and leave me alone lesions), whereas in other cases the focus of treatment is on the prevention and therapy of pathological fractures as well as prevention of recurrence. Cystic bone formations are among the most commonly occurring non-traumatic bone lesions. To eliminate differential diagnostic unclarity, histological investigation of biopsy material is essential. In terms of surgical intervention there exists a trend towards multimodal therapy mostly based on a meticulous curretage.

Triphasic ceramic scaffold in paediatric and adolescent bone defects

We evaluated novel triphasic hydroxyapatite tricalcium phosphate calcium silicate scaffold (HASi) in the management of paediatric bone defects. Their main advantage is considered to be adequate strength and stimulation of bone formation without resorting to autograft. A total of 42 children younger than 16 years of age were recruited over a period of 1 year and were treated with this synthetic bone substitute as a stand-alone graft for pelvic, femur, calcaneal and ulnar osteotomies, cystic bone lesions, subtalar arthrodesis and segmental bone defects. Forty children, 22 boys and 18 girls, mean age 8.3 years and a mean follow-up of 18.51 months, were available for evaluation. Analysis showed that younger age, cancellous defects and no internal fixation were associated with significantly faster healing. Partial incorporation was observed in 22.5% and complete incorporation in 77.5% of cases at 18 months of follow-up. Sex, type of defect, BMI and the shape of the ceramic graft did not significantly affect the rate of healing. Complications attributable to HASi included four nonunions, three of which were diaphyseal. HASi was found to be safe in children with cancellous or benign cavitatory defects. It is not suitable for diaphyseal and segmental bone defects as a stand-alone graft.

Iliac bone cysts adjacent to the sacroiliac joint: an unusual cause of sacroiliac pain.

The aim of this study was to describe cystic bone lesions involving the sacroiliac region of the iliac bone as a rare cause of sacroiliac joint-related pain. The study included 9 patients with benign cystic bone lesion in Zone 1 according to Enneking and Dunham with a minimum of 2 years follow-up. Detailed radiological examination was performed using magnetic resonance imaging or computed tomography. Extended curettage, adjuvant treatment with phenol and thermal cauterization and bone grafting with auto/allografts were performed. Patients were analyzed for age of onset, side of involvement, clinical and radiological findings, tumor stage, complications and clinical/radiological findings at the final follow-up. Female to male ratio was 4 to 5. Average age at the time of diagnosis was 40.3 (range: 27 to 54) years. Average diameter of the lesion was 6.6 (range: 4 to 11) cm. Superficial infection was detected in one patient and hypoesthesia around the site of incision in two. Clinical improvement in pain and limp was reported in all patients. No radiological recurrence was detected after an average follow-up time of 30.7 (range: 21 to 40) months. Benign tumor-like cystic lesions should be kept in mind in the differential diagnosis of sacroiliac joint-related pain. Such lesions can be safely and effectively managed with intralesional curettage, local adjuvant methods and bone grafting.

Soft tissue swellings in the foot: Rheumatoid nodulosis

Background rheumatoid nodulosis is a rare disease characterised by multiple subcutaneous nodules, a high titre of rheumatoid factor, radiologically detectable cystic bone lesions, but with none or few of the systemic manifestations or joint activity of rheumatoid disease. Histopathologically, nodulosis is the same as the nodules found in rheumatoid arthritis. It is considered to be a benign variant of rheumatoid arthritis. A 69 year old male presents with multiple subcutaneous nodules on the feet. This case study highlights the benefits of ultrasound in establishing a correct diagnosis and management. Although rare, rheumatoid nodulosis is a consideration in the differential diagnoses of soft tissue swellings in the feet.

Curettage of benign bone tumors and tumor like lesions: A retrospective analysis

Background:Curettage is one of the most common treatment options for benign lytic bone tumors and tumor like lesions. The resultant defect is usually filled. We report our outcome curettage of benign bone tumors and tumor like lesions without filling the cavity.Materials and Methods:We retrospectively studied 42 patients (28 males and 14 females) with benign bone tumors who had undergone curettage without grafting or filling of the defect by any other bone graft substitute. The age of the patients ranged from 14 to 66 years. The most common histological diagnosis was that of giant cell tumor followed by simple bone cyst, aneurysamal bone cyst, enchondroma, fibrous dysplasia, chondromyxoid fibroma, and chondroblastoma and giant cell reparative granuloma. Of the 15 giant cell tumors, 4 were radiographic grade 1 lesions, 8 were grade 2 and 3 grade 3. The mean maximum diameter of the cysts was 5.1 (range 1.1-9 cm) cm and the mean volume of the lesions was 34.89 cm3 (range 0.94-194.52 cm3). The plain radiographs of the part before and after curettage were reviewed to establish the size of the initial defect and the rate of reconstitution, filling and remodeling of the bone defect. Patients were reviewed every 3 monthly for a minimum period of 2 years.Results:Most of the bone defects completely reconstituted to a normal appearance while the rest filled partially. Two patients had preoperative and three had postoperative fractures. All the fractures healed uneventfully. Local recurrence occurred in three patients with giant cell tumor who were then reoperated. All other patients had unrestricted activities of daily living after surgery. The rate of bone reconstitution, risk of subsequent fracture or the incidence of complications was related to the size of the cyst/tumor at diagnosis. The benign cystic bone lesions with volume greater than approximately 70 cm3 were found to have higher incidence of complications.Conclusion:This study demonstrates the natural healing ability of bone without filling with bone grafts or bone graft substitutes. In selected sizes and locations of the benign lytic tumors and tumor like lesions extended curettage alone can be sufficient.

Metástasis sacra simulando quiste óseo aneurismático

Cystic spinal lesions with characteristic patterns, such as the presence of haematic fluid-fluid levels (H-FFL), have been associated with many tumoral lineages, more frequently with aneurysmal bone cyst (ABC) and exceptionally with metastasis. We present the case of a 60-year-old man with the finding of a sacral cystic bone lesion with H-FFL, with initial suspicion of ABC and confirmed diagnosis of metastasis. The case presented is, to our knowledge, the second case published of spinal cystic bone metastasis with H-FFL pattern with unknown primary tumour at the time of diagnosis and the only one that received resective surgical treatment, achieving pulmonary and metastatic disease control with good quality of life after 1 year of follow up.

Posttraumatic Cysts After Pediatric Fracture

Pediatric postfracture cystic bone lesions are most commonly found on routine follow-up radiographs of distal radius fractures. After their discovery, there is often a discussion of the need for further radiologic imaging or operative intervention. We present 3 cases in which all the 3 pediatric patients had a history of a healing fracture and had the lesions diagnosed incidentally on average 3 months after initial injury. These similar cases demonstrate the nearly identical radiographic characteristics of postfracture cystic lesions of the distal radius. The radiographs consistently demonstrate a well-circumscribed lytic lesion without surrounding sclerosis (geographic 1B) within the elevated periosteum of the healing fracture. These lesions appeared to sit on top of the previous cortex without causing any erosion or having any other aggressive characteristics. All of the lesions were consistent with adipose tissue on all sequence including T1, T2, and fat-suppressed T1-weighted imaging. Although postfracture pediatric cysts are apparently rare, we feel that there is sufficient literature to support that there is no longer any need for advanced imaging modalities to diagnose these lesions in the setting of an appropriate history without confounding variables and classic radiographic appearance. Biopsy, in particular, is decidedly unnecessary, unless the lesion progresses on subsequent radiographs or demonstrates more overtly aggressive initial features. This will allow for faster diagnosis with substantially less burden on the health care system and decreased the stress that is placed on the patients and families involved by requiring magnetic resonance imaging with or without conscious sedation in order to make the final diagnosis. IV-case series.

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): A new report of an Italian woman and review of the literature

We report the clinical case of a 43year old Italian woman and her family with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. PLOSL is a unique disease clinically characterized by a progressive presenile frontal-lobe dementia and multiple cystic bone lesions, typically leading to fractures of the limbs in the third decade of life. This rare recessively inherited disease is caused by mutations in one of two genes encoding different subunits of a receptor signalling complex, TYROBP and TREM2.In the present case fractures after microtrauma were not diagnosed, despite a radiological demonstration of the characteristic bone lesions in PLOSL.Further investigation led to the same diagnosis in her brother, with similar clinical presentation and the same mutation.Therefore a diagnosis of PLOSL should be considered in cases of presenile frontal-lobe dementia, even if the hallmark of pathological fractures is absent.