N35) History of seizures and developmental delay

Review the Learning Outcomes, Hx, PE and Labs, and begin the module with your Provisional Diagnosis. Keep hitting "Next" to move through the module.

Learning Outcomes

  1. Articulate your relationship with the consulting diagnostic radiologists in the evaluation of a patient with seizures.
  2. Review the DDx considerations in a patient with seizures.
  3. Identify the spectrum of imaging findings in appropriate modalities for evaluating patients with seizures.

History

Physical Exam

Labs

Provisional Diagnosis

Select the Dx you believe is most appropriate
In a patient with childhood onset of seizures, developmental delay, and dermatologic findings of ash-leaf spots and facial angiofibromas, the most likely diagnosis is Tuberous Sclerosis Complex (TSC).
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Potential Acuity

What is your assessment of the likely acuity for this patient?

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The patient requires routine, but expedited treatment as their diagnosis is not immediately life-threatening.

First Imaging Study

What is the first imaging study you will order?

CT scan of the brain without contrast is an appropriate initial imaging modality in evaluating patients with seizure activity to rule out life-threatening etiologies.
View ACR Appropriateness Criteria
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Pertinent Imaging Observations

Click on the links below to view images from the study, and assess these key findings as best you can.

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Second Imaging Study

What is the next imaging study you will order?

MRI provides better soft tissue detail and can more comprehensively assess the patient’s suspected TSC.
View ACR Appropriateness Criteria
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Pertinent Imaging Observations

Click on the links below to view images from the study, and assess these key findings as best you can.

View Report

Watch our video

View the full study if you'd like to like a look yourself

Third Imaging Study

What is the next imaging study you will order?

To assess for the presence of additional masses, such as a cardiac rhabdomyoma, renal angiomyolipoma, pulmonary lymphangioleiomyomatosis, and other hamartomatous tumors, abdominal and thoracic CT imaging would be the most appropriate diagnostic tool. In addition to CT imaging, an echocardiogram is also commonly used in the initial imaging workup and ongoing surveillance of patients with TSC.

What is your Diagnosis now that you have seen the imaging results?

The patient’s presentation is consistent with tuberous sclerosis complex.

Current Acuity

Initially, you selected and we suggested acuity.

Has your concern for this patient changed?

The patient requires routine workup and management as her condition is not immediately life-threathening.

Assessment and Plan

Please provide your assessment and plan for this patient

The patient is a 39-year-old female with a history of poorly controlled seizures. Physical exam and imaging findings are most consistent with a working diagnosis of tuberous sclerosis. To assess for multisystem manifestations of TSC, further imaging like an echocardiogram and a body CT should be obtained. The patient should also be referred neurologist to optimize her antiepileptic regimen. The patient should be closely monitored for any changes in seizure activity and any new neurological symptoms. The patient should undergo genetic testing to confirm the diagnosis. Furthermore, the patient should undergo genetic counseling to discuss the implications of their diagnosis and potential future family planning considerations.

Lessons Learned:
- Tuberous sclerosis complex (TSC), also known as Bourneville disease, is a genetic disorder that affects multiple organ systems, characterized by the development of tumors of the embryonic ectoderm. It is rare, affecting approximately 1 in 10,000 people and is inherited in an autosomal dominant pattern. TSC is caused by loss-of-function germline mutations in the tumor suppressor genes TSC1 or TSC2.
- Although the classic clinical triad of seizures, intellectual disability, and facial angiofibromas (Vogt triad) is associated with TSC, it is seen in less than 50% of cases. The diagnostic criteria for TSC has been updated to include a pathogenic mutation of TSC1 or TSC2 along with the presence of two major features or one major feature with two minor features.
- Major features of TSC include hypomelanotic macules, angiofibromas or fibrous cephalic plaques, ungual fibromas, Shagreen patches, multiple retinal hamartomas, cortical dysplasias, subependymal nodules, subependymal giant cell astrocytomas (SEGAs), lymphangioleiomyomatosis (LAM), cardiac rhabdomyomas, and angiomyolipomas (AML).
- Minor features include "Confetti" skin lesions, dental enamel pits, intraoral fibromas, retinal achromic patches, multiple renal cysts, and nonrenal hamartomas.
- Radiologists have a crucial role in the early diagnosis and lifelong follow-up of patients with TSC-related manifestations. Without frequent monitoring and intervention, TSC can result in significant morbidity and mortality. Radiologists can help identify and monitor the development of TSC-associated tumors and other abnormalities, enabling timely intervention to improve patient outcomes.

Socioeconomic Factors:
- Early recognition and diagnosis of TSC remains a challenge due to its varying, multisystem presentation. As in this case, patients who are uninsured or have suboptimal access to comprehensive healthcare have significant delay in their diagnoses and can suffer significant physical, financial, and emotional costs.
- The psychosocial impact of a TSC diagnosis is significant. A recent study examining the psychosocial burden on patients and their families found that TSC has profoundly negative impacts on patients’ careers, relationships with their families and caregivers, and mental health, with a high incidence of associated anxiety and depression.
 

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