Pediatric triad of craniofacial fibrous dysplasia, Chiari malformation type I and syringomyelia: a case report

Fibro-bone lesions (LFO) are defined as a group of lesions characterized by the replacement of normal bone tissue with fibrous connective tissue, of variable cellularity, permeated by a variable amount of mineralized material, whose microscopic appearance may resemble bone, cement or a mixture of both. Among the injuries that make up this group, we can mention: fibrous dysplasia, ossifying fibroma, bone dysplasia and cemento-bone dysplasia. In this case report, we presented a mandibular reconstruction with free autogenous graft from the iliac crest, with the use of stereolithography prototyping, after the surgical treatment of a cemento-ossifying fibroma, as well as to describe the clinical, epidemiological, radiographic characteristics, and histological, the differential diagnosis and the form of treatment of the referred pathology.

Chiari malformation Type I (CM-I) has been associated with sleep disordered breathing (SDB). The aim of this study was to evaluate the prevalence of SDB in CM-I and its clinical correlates in a population of children and adolescents. Fifty-three consecutive children and adolescents affected by CM-I were enrolled (27 girls and 26 boys, mean age 10.3 ± 4.3, range: 3-18 years). All patients underwent neurological examination, MRI, and polysomnography (PSG). Otorhinolaryngologic clinical evaluation was performed in patients with polysomnographic evidence of sleep-related upper airway obstruction. Mean size of the herniation was 9.5 ± 5.4 mm. Fourteen patients had syringomyelia, 5 had hydrocephalus, 31 presented neurological signs, 14 had epileptic seizures, and 7 reported poor sleep. PSG revealed SDB in 13 subjects. Patients with SDB, compared to those without SDB, had a higher prevalence hydrocephalus (p = 0.002), syringomyelia (p = 0.001), and neurological symptoms (p = 0.028). No significant difference was observed in age, gender, prevalence of epilepsy, and size of the herniation. Obstructive SDB was associated with syringomyelia (p = 0.004), whereas central SDB was associated with hydrocephalus (p = 0.034). In our population of CM-I patients the prevalence of SDB was 24%, lower than that reported in literature. Moreover, our findings suggest that abnormalities in cerebrospinal fluid dynamics in CM-I, particularly syringomyelia and hydro-cephalus, are associated with SDB.

RADIOGRAPHIC CHARACTERISTICS OF MONOSTOTIC FIBROUS DYSPLASIA: CASE REPORT

The purpose of this review is to provide a comprehensive overview into the diagnosis and management of fibrous dysplasia (FD) in children. FD is a mosaic disorder arising from somatic Gα s variants, leading to impaired osteogenic cell differentiation. Fibro-osseous lesions expand during childhood and reach final disease burden in early adulthood. The mainstay of treatment focuses on surgical correction of skeletal deformities, physiatric care, and medical management of associated hyperfunctioning endocrinopathies. Bisphosphonates may be helpful to treat bone pain, but do not alter lesion quality or progression. Emerging evidence suggests that the RANKL inhibitor denosumab may be effective in improving lesion activity and mineralization, however further studies are needed to determine the potential utility of this and other novel therapies, particularly in children with FD. Management of children with FD has unique challenges related to skeletal growth and age-related lesion progression. Inclusion of children in clinical research is critical to develop effective treatment strategies to treat FD lesions and prevent their development.

Purpose: Chiari malformation (CM) type-1 frequently causes obstructive or central sleep-disordered breathing (SDB) in both adults and children, although SDB is relatively rare as a presenting manifestation in the absence of other neurological symptoms. The definitive treatment of symptomatic CM is surgical decompression. We report a case that is, to our knowledge, a novel manifestation of central sleep apnea (CSA) due to CM type-1 with severe exacerbation and initial clinical presentation during pregnancy.Methods: Case report from tertiary care comprehensive sleep medicine center with literature review of SDB manifestations associated with CM type-1. PubMed search was conducted between January 1982 and October 2013.Results: We report a 25-year-old woman with severe CSA initially presenting during her first pregnancy that eventually proved to be caused by CM type-1. The patient was successfully treated preoperatively by adaptive servoventilation (ASV), with effective resolution of SDB following surgical decompression, and without recurrence in a subsequent pregnancy. Our literature review found that 58% of CM patients with SDB had OSA alone, 28% had CSA alone, 8 (10%) had mixed OSA/CSA, and 6 (8%) had hypoventilation. Of CM patients presenting with SDB, 50% had OSA, 42% had CSA, 8% had mixed OSA/CSA, and 10.4% had hypoventilation. We speculate that CSA may develop in CM patients in whom brainstem compression results in excessive central chemoreflex sensitivity with consequent hypocapnic CSA.Conclusion: Chiari malformation type-1 may present with a diversity of SDB manifestations, and timely recognition and surgical referral are necessary to prevent further neurological deficits. ASV therapy can effectively manage CSA caused by CM type-1, which may initially present during pregnancy.

Background: Fibrous dysplasia (FD) is a developmental anomaly in which normal bone is gradually replaced with fibrous connective tissue. There are two variants: monostotic and polyostotic. The diagnosis of fibrous dysplasia is generally made on the basis of clinical and radiographic findings. The association between epilepsy and craniofacial fibrous dysplasia is rather unusual. A case of fibrous dysplasia is presented here which was seen co-existing with epileptic seizures. Case Presentation: An 18-year-old male patient reported to the department with the chief complaint of a painless swelling on the right side of the face since 4 years. He gave history of trauma secondary to a fall 4 years back and seizures since 2 years. On extra-oral examination, a diffuse swelling was seen on the right middle third of face extending medio-laterally from ala of nose to outer canthal line, superiorly involving the zygomatic arch. The swelling was bony hard and non-tender on palpation. Intra-orally, swelling was seen associated with right buccal vestibule extending from right lateral incisors to second molar region, with normal overlying surface. Based on the history and clinical presentation a provisional diagnosis of a benign lesion was made. Radiographic features were suggestive of a fibro-osseous lesion, most probably fibrous dysplasia. Considering the fact that fibrous dysplasia may sometimes lead to epilepsy, patient was referred for thorough neurological examination. A surgery was then planned for the patient for correction of the facial deformity. However, the patient refused any further treatment. Conclusion: A clinician must be vigilant and cognizant of this association so that a prompt referral and treatment may be achieved.

Introduction:Fibrous dysplasia is a benign disorder of unknown etiology. It represents a disturbance of normal bone development – a defect in osteoblastic differentiation and maturation that originates in the mesenchymal precursor of the bone. It is characterized by slow progressive replacement of bone by abnormal isomorphic fibrous tissue. Temporal bone involvement is extremely rare. We report an unusual case of fibrous dysplasia presented like a solitary osteochondroma.Case Report:A 14-year-old girl presented with the complaints of slow-growing swelling on the left temporal region in scalp near left eye for 2 years. The swelling was small to begin with, which increased gradually over a period of 2 years. There were no other presenting symptoms. Hearing was normal. Parents of the patient were concerned with cosmesis only. She had undergone 3D CT scan of skull where it showed bony outgrowth with features suggestive of exostosis. This bony outgrowth had cortex in continuity to cortex of temporal bone and medullary canal same as that of the temporal bone and ground-glass appearance. Repeat CT scan showed bony outgrowth with cortical continuity and had pedicle. It was suggestive of pedunculated osteochondroma. There was no evidence of malignant transformation as swelling showed calcified osteoid-like mass throughout. Hence, the clinical and radiological diagnosis of the left temporal bone solitary osteochondroma was made. However, histopathology showed irregularly shaped bony trabeculae in fibrous stroma of variable cellularity without accompanying osteoblast rimming. Thus, diagnosis was fibrous dysplasia of bone. Histopathological slide was reviewed by two independent pathologists with same conclusion.Conclusion:Our case was unique in that the lesion presented clinically and radiologically as solitary osteochondroma. However, in hindsight, lack of cartilage cap on CT scan should have prompted us to look for another diagnosis. To the best of our knowledge, this was unique varied presentation of fibrous dysplasia of temporal bone.

Fibrous dysplasia is a benign skeletal disorder in which the normal bone and marrow are replaced by fibrous tissue and haphazardly distributed woven bone. The aim of this case report is to discuss the orthodontic treatment of a 13-year-old patient with fibrous dysplasia in the left maxilla. The patient had rotated maxillary second premolars, moderate crowding in both maxillary and mandibular arches with low maxillary frenal attachment. Orthodontic treatment was done with full fixed appliance and extraction of maxillary and mandibular third molars. Maxillary frenectomy and free gingival graft in mandibular anterior region were performed by a periodontist. The oral and maxillofacial surgery team monitored fibrous dysplasia in the left maxilla on a yearly interval. There is very limited information about orthodontic management of patients with craniofacial fibrous dysplasia. This case report discusses the orthodontic treatment and the importance of interdisciplinary approach in the management of patient with maxillofacial fibrous dysplasia. Key words:Orthodontic treatment, fibrous dysplasia, maxillofacial fibrous dysplasia, case report.

Introduction: First described by Von Recklinghausen in 1891, fibrous dysplasia is a developmental defect of osseous tissue such that bone is produced with an abnormally thin cortex and marrow is replaced with fibrous tissue that demonstrates characteristic ground-glass appearance on x-ray examination. The underlying defect in fibrous dysplasia is a mutation of the GNAS1 gene, which leads to constitutive activation of gene products that preclude the maturation of osteoprogenitor cells and lead to development of abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. There exists a mainly self-limiting form of fibrous dysplasia classified as monostotic, which is characterized by dysplastic bone in a single location that remains relatively stable throughout life and a polyostotic form, which can exhibit aggressive growth placing adjacent structures at risk for compressive sequelae. Methods: We present the surgical management of an unusual case of monostotic fibrous dysplasia, which exhibited aggressive growth with mass effect, and late presentation, both uncharacteristic features for the monostotic form. The authors also performed a comprehensive review of the literature and discuss the disease process, management options, and indications for surgical treatment. Results: An overview of the disease process and management options is presented. The authors also present details of reconstruction in an unusual form of symptomatic monostotic fibrous dysplasia. Conclusion: Conservative management is usually the mainstay of therapy in asymptomatic cases of fibrous dysplasia. In patients fulfilling criteria for surgical management, craniofacial reconstruction offers a viable option in the surgeon's armamentarium, providing good functional and cosmetic outcomes.

Fibrous dysplasia is a pathological condition, where normal medullary bone is replaced by fibrous tissue and small woven specules of bone. Fibrous dysplasia can occur in epiphysis, metaphysis or diaphysis. Occasionally, biopsy is necessary to establish the diagnosis. We present a review of operative treatment using the Ilizarov technique.

Objective To study the imaging and pathological characteristics of fibrous dysplasia of bone(FDB)in limbs of children, to improve knowledge and preoperative diagnosis of the disease. Methods From January 2011 to December 2016, the clinical features, imaging findings, pathologic features of 32 patients with limbs FDB confirmed by surgical pathologic in Children's Hospital of Nanjing Medical University were analyzed retrospectively. Of 32 patients, 19 patients were males, 13 patients were females. The average age was 9.2 years (2 to 14 years). X-ray examination was performed in 32 patients, CT scan and 3D reconstruction in 30 patients, and MRI examination in 14 patients. All imaging data, including shape, location, boundary, combined pathologic fracture or not and so on, were analyzed, those imaging features and pathology were compared and analyzed. Results Twenty-seven patients with single bone lesions including 15 lesions in the femur, 7 lesions in the tibia, 1 lesion in the fibula, 2 lesions in the humerus, and 2 lesions in the ulna. Four patients with multiple bone lesions including lesions were located in the femur and tibiofibula in 2 patients, femur and occipital bone in one patient, and ulna and radius in one patient. One patient with McCune-Albright syndrome was located in right femur, ilium and pubis. Pathologic fracture was seen in 11 patients. Histological examination revealed fibrous dysplasia was bone developmental anomaly characterized by replacement of normal bone and marrow bone by fibrous tissue. Imaging with ground-glass like changes, pathology of the mature fibrous tissue was leathery. Imaging showed cystic expansion translucent changes, pathological manifestations often dominated by fibrous tissue active growth, qualitative change mucoid degeneration and cystic changes. Imaging vegetable sponge like changes, the pathological manifestations for the hyperplasia of fibrous tissue and new bone trabecula distributed hybrid. Conclusions FDB of limbs usually involves femur and tibia. The images of FDB have some characteristic including ground-glass form images and expansive images. Pathological features showing normal bone marrow tissues are replaced by a large number of fibrous tissues. The different imaging changes have their corresponding pathological characteristics. Key words: Fibrous dysplasia of bone; Child; Long bone; Pathology; Imaging

Fibrous dysplasia (FD) is a rare, benign, and slowly progressive bone disorder that affects one or more bones, where the normal bone is replaced by atypical fibrous connective tissue, making the bone weak, fragile, and more susceptible to fracture. FD can affect a single bone (monostotic FD) or multiple bones (polyostotic FD). The clinical manifestations and progression of FD vary from one individual to the other. The diagnosis is based on radiological and histopathological findings; a bone biopsy is the diagnostic test of choice for FD. The management of FD depends on the type and severity of the condition. The modality of management is mainly conservative. However, surgery is offered to preserve the function and prevent complications. Surgery is the ideal treatment that helps in definitive diagnosis, determining disease progression or malignant transformation, removing a compressive lesion, cosmetic surgeries, and failure of non-surgical treatments. We reported a new case of monostotic fibrous dysplasia involving the right partial bone in a 27-year-old male who underwent a successful operative excision of the lesion. The patient clinically improved and was discharged later with instructions for his follow-up. We report this case of monostotic FD as it highlights the importance of considering FD in the differential diagnosis of bone lesions, especially in young patients presenting with bone pain or deformities.

Objective:To study the etiology and treatment of fibrous dysplasia in children.Method:16 cases of fibrous dysplasia in children younger than 8 years are reported.Most of them were monostotic and the lesions located in the shaft of the long bone.The pathology,clinical manifestations,X-ray films,histology,tissue cultures and treatment were reviewed and analysed.The follow-up ranging from 6 mos to 12yrs(6yrs and 2mos in an average)showed that 13 cases of recurrence making a relapse rate of 70%.Results:Pathological sections of fibrous dysplasia showed true tumor's characters with active proliferation and infiltrative growth.The disease can be divided into resting type and developing type according to the degree of the proliferation and osseous metaplasia of the fibrous tissue.Conclusion:It is believed that the developing type of fibrous dysplasia should he treated surgically as early as possible. Key words: Bone disease; Histocyte

Infection, neoplasia and bone dysplasia cause alterations in bone architecture. Fibrous dysplasia (FD) is a common benign skeletal disorder in which normal bone is replaced by extensively proliferating fibrous tissue. Lesions may involve one or more bones and cause pain, fractures or disfigurement Craniofacial FD has the potential to cause significant cosmetic and functional disturbances, Here, we describe a 23-year-old male with refractory craniofacial FD combined with sclerosing osteomyelitis. Although the patient had undergone several surgeries for bone contouring, corticotomy and sequestrectomy, the lesion progressed, and the patient suffered from disfigurement and persistent pain. However, the symptoms and signs were rapidly relieved by two doses of 4 mg intravenous zoledronic acid at a 6-month interval. Based on the published reports and our experience, the administration of bisphosphonate may be an alternative treatment for craniofacial FD patients who display refractory progress, present accompanying infection, and whose lesions are in sensitive locations that make surgery difficult.

Fibrous dysplasia is a benign bone disease in children and young adults. This is characterized by the replacement of normal bone with fibrous tissue along with immature woven bone. Fibrous dysplasia is a rare disorder and has variable presentations that pose challenges in diagnosis and treatment. Decisions are made on a case-by-case basis, depending on the symptoms, location, or possible complications. Symptomatic lesions are treated with surgical resection. cosmetic concerns of the patients are taken care of by surgical contouring. For any unresectable or recurrent lesion, bisphosphonate therapy can be used as a form of medical management.