Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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June 8, 2017
Gobbi Syndrome
- Background:
- Gobbi syndrome is a nonhereditary-based syndrome defined by the association of celiac disease, bilateral occipital calcifications, and epilepsy (occipital seizures).
- The seizures and cerebral calcifications have been suggested to be related to immune reaction originating from the jejunal mucosa, triggered by gliadin in gluten-intolerant subjects.
- The classic imaging findings include absence of cerebral atrophy, absence of contrast enhancement of the brain, and subcortical calcifications of bilateral occipital lobes.
- Clinical Presentation:
- Epilepsy usually focal or complex partial seizures that could be difficult to treat
- Key Diagnostic Features:
- Bilateral cortico-subcortical calcification confined to the parietooccipital regions
- No enhancement after injection of contrast
- No atrophy in the cortical areas adjacent to the calcifications
- Differential Diagnoses:
- Sturge-Weber syndrome: Calcifications in Sturge-Weber syndrome are located at the cortex rather than in gray-white matter interface. Furthermore, typical features of Sturge-Weber syndrome, such as cortical atrophy, ipsilateral choroid plexus enlargement, and abnormal deep cerebral veins, are not shown in Gobbi syndrome.
- Atypical forms of other phakomatoses, intratecal methotrexate, central nervous system irradiation in childhood leukemia, and congenital folate malabsorption: Calcification could be found in these abnormalities, but there are other typical findings that could help us make the differential diagnosis.
- In our case, SWI sequence allowed us to differentiate calcification from hemorrhage. SWI consists of using both magnitude and phase images. The phase images can help differentiate calcification (which is diamagnetic) from hemorrhage (which is paramagnetic). Negative phase shift (diamagnetic susceptibility) occurs for veins, iron, and hemorrhage, making them appear uniformly dark. Calcium undergoes a positive phase shift (paramagnetic susceptibility) and is displayed as a high-signal-intensity area on the phase image. This appearance on phase image is true for a right-handed system.
- Treatment:
- Early diagnosis and dietary treatment determine the course and prognosis of epilepsy.