ABSTRACT
PURPOSE: We aim to retrospectively evaluate patients with non-ossifying fibroma (NOF) of the distal femur by radiographs, CT and MRI, and to provide a theory describing the reasoning for the distal femur NOF's location and aetiology. METHODS: Charts of patients with NOFs between 2003 and 2014 were retrospectively reviewed. Inclusion criteria encompassed a diagnosis of NOF of the distal femur by imaging, and histologically, if available. Radiographs, CT and MRI were used to characterise the relationship of the NOF lesions with the surrounding soft tissues. RESULTS: The 68 NOFs from 60 patients were included. By radiograph, 41 (60.3%) of the 68 lesions appeared at the medial and 25 (36.7%) at the lateral aspect of the distal femur. In total, 41 lesions had CT scans, showing 22 NOFs (53.7%) attached to the origin of the medial gastrocnemius, 12 (29.3%) to the origin of the lateral gastrocnemius and four (9.8%) at the attachment of the adductor magnus. Of the CT scans, 93% identified the NOF's relationship with an adjoining tendon of the distal femur. Six had MRIs, all of which showed attachment at the medial gastrocnemius. CONCLUSION: The study reveals a relationship between tendinous structures and NOFs. NOFs of the distal femur occur most commonly at the origin of the medial and lateral gastrocnemius. They may originate from the physis/metaphysis but they do not always attach to the physis, as we observe them 'migrating' as patients grow. More research is required to understand the exact aetiology of NOFs.
ABSTRACT
OBJECTIVE: The purpose of this study was to assess the prevalence of and to identify epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism spectrum disorders (ASD) in a cohort of patients with tuberous sclerosis complex (TSC). METHODS: A total of 103 patients with TSC were evaluated for ASD. A retrospective review of patients' records was performed, including mutational analysis. EEG reports were analyzed for the presence of ictal and interictal epileptiform features. Brain MRI scans were evaluated for TSC neuropathology, including tuber burden. RESULTS: Of the 103 patients with TSC, 40%were diagnosed with an ASD. On univariate analysis, patients with ASD were less likely to have mutations in the TSC1 gene. Patients with ASD also had an earlier age at seizure onset and more frequent seizures. On EEG, those with ASD had a significantly greater amount of interictal epileptiform features in the left temporal lobe only. On MRI, there were no differences in the regional distribution of tuber burden, although those with TSC2 and ASD had a higher prevalence of cyst-like tubers. CONCLUSIONS: The development of ASD in TSC is not well understood. Given our findings, ASD may be associated with persistent seizure activity early in development in particular brain regions, such as those responsible for social perception and communication in the left temporal lobe. The presence of cyst-like tubers on MRI could provide a structural basis or marker for ASD pathology in TSC, although studies assessing their effect on cortical function are needed.
Subject(s)
Child Development Disorders, Pervasive/etiology , Tuberous Sclerosis/complications , Adolescent , Adult , Age of Onset , Brain/pathology , Brain/physiopathology , Child , Child Development Disorders, Pervasive/genetics , Child Development Disorders, Pervasive/pathology , Child Development Disorders, Pervasive/physiopathology , Child, Preschool , Electroencephalography , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Retrospective Studies , Risk Factors , Tuberous Sclerosis/genetics , Tuberous Sclerosis/pathology , Tuberous Sclerosis/physiopathology , Tuberous Sclerosis Complex 2 Protein , Tumor Suppressor Proteins/geneticsABSTRACT
BACKGROUND: Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). OBJECTIVE: The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NMI). METHODS AND RESULTS: We conducted a retrospective review of the chest computed tomography (CT) of 45 female and 20 male patients with TSC and found cysts consistent with LAM in 22 (49%) women and two (10%) men. In the female population, changes consistent with LAM were observed in six of 15 (40%) patients with TSC1, 11 of 23 (48%) with TSC2, and five of seven (71%) with NMI. While the predominant size of cysts did not differ across these three groups, TSC2 women with LAM had a significantly greater number of cysts than did TSC1 patients (p = 0.010). CONCLUSIONS: These findings suggest a higher rate of LAM in TSC1 than previously recognised, as well as a fundamental difference in CT presentation between TSC1 and TSC2.
