Progressive craniofacial deformity and visual disturbance.
The patient was admitted with headaches, craniofacial deformity and visual disturbance.
A CT scan was performed demonstrating pathological craniofacial bones, and bilateral optical canal compression.
Fibrous dysplasia (FD) of bone is one of the most frequently encountered anomalies of skeletal development. It may involve one or more bones. This idiopathic benign condition is a slowly progressive disorder where normal bone is replaced by fibrous tissue and immature woven bone. Osteoblastic mesenchymal tissue undergoes abnormal development resulting in a condition which has a variable growth rate. It usually presents in the first two decades and the clinical features vary according to the site and potential complications. The ribs, femur, tibia and maxilla are most commonly involved. Craniofacial involvement is less frequent.
Three clinical variants are usually described:
The radiological features of craniofacial FD are variable but occasionally characteristic. They can be divided into three patterns:
Computed tomography (CT) scanning is a helpful adjunct for diagnosis and surgical planning purposes and is still the most commonly performed radiological procedure in FD. CT is more useful than plain films in defining the nature and extent of the lesion. It shows a characteristic uniform amorphous texture of higher density than soft tissues. It is also useful for measuring growth rate in relatively asymptomatic patients.
MRI is also an accurate technique for the follow-up of these patients. It has become the procedure of choice for routine follow-up of patients treated conservatively.
The natural history of the disease has two phases; an active phase until puberty and a later quiescent phase.
The differential diagnosis in monostotic craniofacial fibrous dysplasia includes osteoma, ossifying fibroma, meningioma, osteoblastoma, osteosarcoma and chondrosarcoma. Polyostotic fibrous dysplasia must be differentiated from hyperparathyroidism, Paget's disease, neurofibromatosis and tuberous sclerosis.
The diagnosis of FD is made on a combination of clinical, radiological and pathological criteria.
Polyostotic craniofacial fibrous dysplasia
Based on the provided craniofacial CT images, the following key features can be observed:
These findings suggest a diffuse, expansile lesion of the craniofacial bones. Given the patient’s clinical symptoms of “progressive craniofacial deformity” and “visual impairment,” there is concern for potential compression of the optic nerve or periorbital tissues.
Based on the imaging features described above and the patient’s medical history, the primary differential diagnoses include:
Considering the patient’s age (9 years), symptoms (progressive craniofacial deformity and visual impairment), and imaging findings (expansile lesions in craniofacial bones with a “ground-glass” appearance), the most likely diagnosis is:
Fibrous Dysplasia (Craniofacial Fibrous Dysplasia, FD).
Definitive diagnosis typically requires correlation with histopathological evaluation and further clinical follow-up. Biopsy may be considered if necessary to rule out other benign or malignant lesions.
Management of fibrous dysplasia generally depends on the extent of the lesion, severity of symptoms, and the impact on function and appearance to determine whether surgical intervention is needed:
Rehabilitation and Exercise Recommendations:
Disclaimer: This report provides a reference analysis and does not substitute for an in-person diagnosis or professional medical advice. If you have any questions or if your condition changes, please seek medical attention and consult with qualified professionals.
Polyostotic craniofacial fibrous dysplasia
