Gobbi CEC Syndrome (Celiac Disease, Epilepsy, and Cerebral Calcifications)

-

 


What do you do when a routine brain CT for non-specific headaches reveals striking, dense, bilateral calcifications, but the clinical exam is completely unremarkable?

In our latest teaching case on RP Radiology - Radiant Pixels, we break down a fascinating case of a 40-year-old patient whose neuroimaging keys open a door to a completely unexpected systemic diagnosis.

The Imaging Dilemma: Symmetrical but Atypical

When encountering prominent, symmetrical intracranial mineralization on a non-contrast CT, the classic reflex is to think of Fahr’s disease (primary familial brain calcification). However, this case reminds us why location is everything in neuroradiology. While Fahr's characteristically targets the deep gray matter, this patient's basal ganglia, thalami, and dentate nuclei were completely pristine. The dense calcifications were strictly restricted to the cortical and subcortical regions of the bilateral occipital lobes.

To investigate further, we performed an MRI, which revealed:

• Heavy blooming artifact on SWI, confirming the dense mineralization.

• Completely quiet parenchyma on FLAIR, with an absolute absence of surrounding edema or gliosis.

• No contrast enhancement or vascular malformations, effectively ruling out an atypical, bilateral presentation of Sturge-Weber syndrome.

Connecting the Dots: Gobbi (CEC) Syndrome

This precise neuroradiological signature—isolated, symmetrical occipital calcifications with spared basal ganglia and normal underlying parenchyma—points directly to a rare entity: Gobbi syndrome, also known as CEC syndrome.

CEC represents a distinct clinical triad:

1. Celiac disease

2. Epilepsy

3. Cerebral calcifications

Though traditionally diagnosed in pediatric patients presenting with occipital seizures, adult presentations can be completely asymptomatic or present with vague, non-specific symptoms like chronic headaches.

The Neurological Link to Celiac Disease

How does a gluten-induced autoimmune disorder cause intracranial calcifications? Celiac disease triggers an inappropriate T-cell-mediated response that damages the mucosal lining of the small intestine. This leads to chronic malabsorption of essential nutrients, particularly folate.

In the central nervous system, the combination of chronic folate deficiency and circulating immune complexes is thought to induce localized, low-grade endothelial inflammation. Within the posterior vascular bed, this microvascular injury ultimately results in the localized, dystrophic cortical and subcortical calcifications seen on our patient's CT.

As radiologists, recognizing this specific distribution allows us to guide the clinical team beyond neuroimaging. The vital next step for this patient isn't more scans—it's a simple celiac serology panel (anti-tTG IgA). Identifying silent celiac disease can prevent long-term systemic and malabsorptive complications.

Head over to the RP Radiology - Radiant Pixels YouTube channel to view the complete side-by-side CT and MRI walkthrough, analyze the imaging sequences, and add this high-yield differential to your diagnostic toolkit.

Popular posts from this blog

Broca's Infarct

-
Image
Patient presented with expressive dysphasia . MRI shows acute infarct in Broca's Area in the left inferior frontal gyrus that is responsible for speech production. Note high signal on DWI, low on corresponding ADC as well as signal changes on T2 and coronal FLAIR.
Read more

Hemorrhagic Choroid Plexus Cyst

-
Image
Transversal Diffusion Weighted sequence shows high signal in the left choroid plexus with corresponding low signal on ADC (restricted diffusion). Finding represents acute Hemorrhagic Choroid Plexus Cyst . It is also known as Choroid Plexus Xanthogranuloma . Gradient Echo sequence (third image) shows low signal in the right choroid plexus representing hemosiderine deposits after previous hemorrhage. Coronal T1 shows intermediate to high signal in the plexus cyst. Note also low signal in the right plexus on T2 (old hemorrhage) and high signal on FLAIR in the left plexus (acute hemorrhage). Choroid Plexus Cysts are very common normal finding. Those often show restricted diffusion. However in our case of patient with hypertension this finding is of interest to the clinicians as a requirement to more closely monitor patient's blood pressure. There were no signs of intraventricular hemorrhage.
Read more

Huntington Disease

-
Image
10 years old boy from parents being cousins to each other presents with progressive rigidity and dystonia. Initial MR showing significant bilateral atrophy in caudate nuclei and putamina with high signal on FLAIR and T2 consistent with gliosis. Note striking symmetric atrophy of the putamina and caudate nuclei on T2 and IR. Huntington disease (HD) is also known as Huntington chorea. HD is an autosomal dominant chronic hereditary neurodegenerative disorder with complete penetrance [Osborn].  Aggregates of huntingtin protein accumulate in axonal terminals, which eventually leads to the death of medium spiny neurons. Autopsy shows generalized cerebral atrophy with an average of 30% reduction in brain weight. Both the cortex and hemispheric WM are affected. The most characteristic gross abnormality is volume loss with rarefaction of the caudate nucleus, putamen, and globus pallidus [Osborn].  Microscopically, HD features neuronal loss with huntingtin nuclear inclusi...
Read more