Brain Calcifications and Diagnosing CEC Syndrome

The third and final piece of the CEC syndrome triad is cerebral calcifications. These are areas of calcium deposition that form within the brain tissue ^[1]. Understanding exactly what they are and where they are located is the key to confirming a clinical diagnosis of CEC syndrome and distinguishing it from other conditions.

Where and How Calcifications Appear

In CEC syndrome, the calcium deposits have a very specific “address” in the brain. They are characteristically bilateral (on both sides) and located in the posterior regions, specifically the occipital lobes at the very back of the head ^[2][1]. This area of the brain manages your vision, which explains why many people with CEC experience visual seizures ^[3].

To find these deposits, doctors use specific imaging tools:

• Computed Tomography (CT) Scan: This is the “gold standard” for seeing calcium. Because calcium is dense, it appears as bright, clear white spots on a CT scan, making them very easy for a radiologist to map ^[1][4].
• Magnetic Resonance Imaging (MRI): While an MRI is excellent for looking at the “soft” parts of the brain (like nerves and blood vessels), it is sometimes less sensitive at picking up small calcium deposits than a CT ^[1]. However, doctors often use an MRI to check for other issues, such as brain tissue shrinkage (atrophy) ^[5][6]. MRI does not routinely assess blood flow unless dedicated vascular imaging is ordered.

Distinguishing CEC from Similar Conditions

Because brain calcifications can appear in several different diseases, your medical team must rule out other “look-alike” conditions. This process is called differential diagnosis. CEC syndrome is distinguished by the presence of celiac disease and epilepsy, requiring clinical correlation and the exclusion of alternatives.

Sturge-Weber Syndrome (SWS)

Sturge-Weber can also cause brain calcifications and seizures, but it has several distinct features:

• Facial Marks: Most people with SWS are born with a port-wine stain (a flat, red or purple birthmark) on the face, usually near the eyes or forehead ^[7]. However, the absence of a facial port-wine stain does not exclude SWS.
• Vascular Abnormalities: SWS involves abnormal “tangles” of blood vessels on the surface of the brain (leptomeningeal capillary malformation) ^[8].
• Eye Issues: SWS is frequently associated with glaucoma (high pressure in the eye) ^[9].

Fahr’s Disease (PFBC)

Fahr’s disease (primary familial brain calcification) is a genetic disorder where calcium builds up in the brain, but it differs in location and cause:

• Location: Fahr’s disease primarily affects the basal ganglia—deep structures in the middle of the brain ^[10].
• Metabolic Factors: Some forms of brain calcification (Fahr’s syndrome) are caused by imbalances in calcium or parathyroid hormone (PTH) (hypoparathyroidism) ^[11]. In CEC syndrome, these hormone levels are typically normal ^[1][2].

Doctors will also rule out congenital infections and other genetic or inflammatory disorders.

What Do the Calcifications Mean for the Future?

A common question is whether these calcium deposits will grow or if they can be removed. Their evolution and natural history in CEC are not completely established due to the rarity of the condition. While they may be stable in many reported patients, they generally cannot be medically dissolved and are not usually treated surgically ^[2]. Repeat imaging should be individualized by your doctor; routine serial CT is not always necessary due to radiation exposure. The focus of your care will not be on treating the calcifications directly, but rather on managing the celiac disease and epilepsy ^[2].