Atypical Sturge–Weber syndrome Type III without facial nevus presenting as acute focal neurological deficit in a child: a case report
This case report describes a 4-year-old girl with atypical Sturge–Weber syndrome Type III who presented with acute focal neurological deficits and fever, highlighting the diagnostic challenge of distinguishing this condition from encephalitis and emphasizing the critical role of contrast-enhanced MRI for accurate diagnosis when CT findings are misleading.
Original paper licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). This is an AI-generated explanation of the paper below. It is not written or endorsed by the authors. For technical accuracy, refer to the original paper. Read full disclaimer
The human brain is a complex network of blood vessels and tissue, and when that network develops with a flaw, it can lead to a condition known as Sturge–Weber syndrome. In its classic form, this condition is immediately recognizable: a child is born with a distinctive red birthmark, often called a port-wine stain, on one side of their face. This mark is a visible sign of a deeper issue where abnormal blood vessels form in the lining of the brain, potentially causing seizures or weakness on one side of the body. Doctors have long relied on this visible skin mark to spot the disease early. However, medicine is full of exceptions, and there exists a rare, hidden version of this syndrome where the brain is affected, but the face and eyes remain completely clear. This invisible variant makes diagnosis incredibly difficult, as the tell-tale signs doctors look for are simply not there.
A team of researchers recently documented a striking example of this hidden condition in a four-year-old girl. The child arrived at the hospital with a high fever and sudden weakness on her left side. Because she had a fever and a sudden neurological problem, the medical team's first thought was an infection, such as encephalitis, which is inflammation of the brain often caused by a virus or bacteria. They performed a standard scan of her brain using X-rays, a technique called a non-contrast CT scan. This initial scan showed some dark, patchy areas in the brain tissue, which looked like damage from an infection, reinforcing the idea that she was sick with an illness rather than a structural birth defect. Based on this, she was treated with antibiotics and other medications for an infection, but her symptoms did not fully resolve, and the diagnosis remained uncertain.
To get a clearer picture, the doctors ordered a more detailed scan called a contrast-enhanced MRI. This procedure uses a special dye injected into the bloodstream to make blood vessels and certain tissues light up on the image. The results were a revelation. Instead of the signs of an infection, the scan revealed a specific pattern of abnormal blood vessels lining the surface of the brain, along with a slight shrinking of the brain tissue in the right front and top sections. These features are the hallmark of Sturge–Weber syndrome, but specifically a type that lacks the facial birthmark. The scan also showed that the deep veins draining blood from the brain were wider than normal, a sign that the blood was struggling to find its usual path out. This confirmed that the child had a rare form of the disease, known as Type III, which presents without the classic red birthmark or any eye problems.
The discovery changed the course of her care. Once the doctors understood that the problem was a vascular birth defect rather than an infection, they shifted to supportive management. Over the next week, the girl's strength gradually returned. She did not suffer from seizures, a common complication of the classic form of the disease, and she eventually recovered enough to return to school and play independently. Her case serves as a critical reminder that when a child presents with sudden weakness and a fever, but the standard tests are confusing, doctors must look deeper. The initial scan had been misleading, showing only the aftermath of the problem rather than the cause. Only the detailed MRI could reveal the true nature of the condition.
This case highlights a significant challenge in pediatric medicine: the danger of relying solely on the most obvious signs. In the classic version of Sturge–Weber syndrome, the red birthmark acts as a flag, guiding doctors to the correct diagnosis quickly. In this girl's case, the absence of that flag led to a period of uncertainty and a misdiagnosis of an infection. The researchers emphasize that for children who show sudden neurological deficits without the usual skin or eye signs, a detailed MRI with contrast is essential. It is the only way to see the hidden vascular abnormalities that define this rare condition. By recognizing this pattern early, doctors can avoid unnecessary treatments for infections and focus on the specific care needed for the vascular issue, leading to better outcomes for children who might otherwise be overlooked.
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