The natural history of epilepsy in tuberous sclerosis complex

Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease. Methods: A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), seizure other than IS, refractory epilepsy, Lennox-Gastaut syndrome (LGS), anticonvulsant medication use, ages of seizure onset, last seizure, last clinic visit, clinical seizure phenotype(s), cognitive impairment, and genetic mutation. Results: Two hundred ninety-one patients were included. Among these patients, 37.8% had a history of IS; 85.2% had a history of seizure; 54.1% developed multiple seizure types, not including IS; 63.2% had seizure onset in the first year of life; and 12.1% of adults without a seizure history developed epilepsy. Of epilepsy patients, 62.5% developed refractory epilepsy and 33.5% achieved epilepsy remission; 37.5% of these patients achieved medication freedom. IS was a risk factor for refractory epilepsy (p<0.0001) and LGS (p<0.0001). History of seizure, IS, age at seizure onset, and refractory epilepsy each correlated with poor cognitive outcome (p<0.0001). Epilepsy remission correlated with better cognitive outcome (p<0.0001). TSC2 was a risk factor for IS and epilepsy; patients without an identified mutation were more likely to achieve remission. Conclusion: Most patients with TSC develop epilepsy and most develop multiple seizure types. Onset typically occurs in the first year of life; however, adults remain at risk. Although refractory epilepsy is common, many patients achieve seizure control. Many features of seizure history are predictive of cognitive and epilepsy outcome

Optimal clinical management of children receiving dietary therapies for epilepsy : Updated recommendations of the International Ketogenic Diet Study Group

Ketogenic dietary therapies (KDTs) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years KDTs were implemented differently throughout the world due to lack of consistent protocols. In 2009, an expert consensus guideline for the management of children on KDT was published, focusing on topics of patient selection, pre-KDT counseling and evaluation, diet choice and attributes, implementation, supplementation, follow-up, side events, and KDT discontinuation. It has been helpful in outlining a state-of-the-art protocol, standardizing KDT for multicenter clinical trials, and identifying areas of controversy and uncertainty for future research. Now one decade later, the organizers and authors of this guideline present a revised version with additional authors, in order to include recent research, especially regarding other dietary treatments, clarifying indications for use, side effects during initiation and ongoing use, value of supplements, and methods of KDT discontinuation. In addition, authors completed a survey of their institution's practices, which was compared to responses from the original consensus survey, to show trends in management over the last 10 years

The aetiology of the non-ossifying fibroma of the distal femur and its relationship to the surrounding soft tissues.

PurposeWe 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.MethodsCharts 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.ResultsThe 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.ConclusionThe 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

The aetiology of the non-ossifying fibroma of the distal femur and its relationship to the surrounding soft tissues

PurposeWe 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.MethodsCharts 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.ResultsThe 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.ConclusionThe 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

Nonossifying Fibromas: A Computed Tomography-based Criteria to Predict Fracture Risk.

BackgroundNonossifying fibroma (NOF) is the most common benign osseous lesion in children; however, our understanding of which lesions progress to a fracture remains unclear. In this study, we seek to formulate a classification system for NOFs to assess for fracture risk and determine what this classification system tells us regarding fracture risk of the distal tibia and distal femur NOFs.MethodsCharts were retrospectively reviewed for patients with NOFs. A 4-point criteria was created and used to calculate fracture risk for distal tibia and distal femur NOFs. The analysis included incidence, specificity, and sensitivity.ResultsOne point was given for each of the following findings on computed tomography (CT) scan: (1) &gt;50% width on coronal view; (2) &gt;50% width on sagittal view; (3) any cortical breach; (4) lack of a neocortex. In total, 34 patients with NOFs of the distal tibia had CT scans, of which 14 fractured. Zero with a 0- or 1-point score fractured, 2 with a 2-point score fractured (20%), 4 with a 3-point score fractured (44%), and 8 with a 4-point score fractured (100%). Sensitivities of 1-, 2-, 3-, and 4-point scores were 100%, 100%, 85.7%, and 57.1%, respectively, and specificities were 71.4%, 71.4%, 80%, and 100%, respectively. A total of 41 patients with NOFs of the distal femur had CT scans, of which 5 fractured. Zero with a 0-point score fractured, 1 with a 1-point score fractured (4%), 0 with a 2-point score fractured, 1 with a 3-point score fractured (20%), and 3 with a 4-point score fractured (100%). Sensitivities of 1-, 2-, 3-, and 4-point scores were 100%, 80%, 80%, and 60%, respectively; and specificities were 60%, 87.8%, 90%, and 100%, respectively.ConclusionsOur 4-point CT criteria is easy to apply and identifies patients at high risk of fracture, helping surgeons make decisions regarding treatment.Level of evidenceLevel IV-prognostic study

Nonossifying Fibromas: A Computed Tomography-based Criteria to Predict Fracture Risk.

BackgroundNonossifying fibroma (NOF) is the most common benign osseous lesion in children; however, our understanding of which lesions progress to a fracture remains unclear. In this study, we seek to formulate a classification system for NOFs to assess for fracture risk and determine what this classification system tells us regarding fracture risk of the distal tibia and distal femur NOFs.MethodsCharts were retrospectively reviewed for patients with NOFs. A 4-point criteria was created and used to calculate fracture risk for distal tibia and distal femur NOFs. The analysis included incidence, specificity, and sensitivity.ResultsOne point was given for each of the following findings on computed tomography (CT) scan: (1) &gt;50% width on coronal view; (2) &gt;50% width on sagittal view; (3) any cortical breach; (4) lack of a neocortex. In total, 34 patients with NOFs of the distal tibia had CT scans, of which 14 fractured. Zero with a 0- or 1-point score fractured, 2 with a 2-point score fractured (20%), 4 with a 3-point score fractured (44%), and 8 with a 4-point score fractured (100%). Sensitivities of 1-, 2-, 3-, and 4-point scores were 100%, 100%, 85.7%, and 57.1%, respectively, and specificities were 71.4%, 71.4%, 80%, and 100%, respectively. A total of 41 patients with NOFs of the distal femur had CT scans, of which 5 fractured. Zero with a 0-point score fractured, 1 with a 1-point score fractured (4%), 0 with a 2-point score fractured, 1 with a 3-point score fractured (20%), and 3 with a 4-point score fractured (100%). Sensitivities of 1-, 2-, 3-, and 4-point scores were 100%, 80%, 80%, and 60%, respectively; and specificities were 60%, 87.8%, 90%, and 100%, respectively.ConclusionsOur 4-point CT criteria is easy to apply and identifies patients at high risk of fracture, helping surgeons make decisions regarding treatment.Level of evidenceLevel IV-prognostic study