NEURORADIOLOGY


Case 29 :
A young female presents with history of seizures and mental retardation.

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Diagnosis

Sturge Weber Syndrome

Discussion

Sturge-Weber Syndrome (or disease) is a congenital vascular malformation affecting the head, face, and brain. The primary process appears to be faulty development of the venous drainage for the cerebral capillary bed. A similar process affects the skin, eye, and the soft-tissues of the head. Development of the brain usually proceeds to a normal size, but after birth, there is progressive atrophy of the affected hemisphere(s). The disease is usually unilateral, but bilateral cases can occur. Typically the patient presents at birth with a "Port Wine Nevus" - a reddish-brown or pink discoloration of the face, often following the distribution of the trigeminal nerve. Intracranially, ipsilateral to the facial nevus, there is abnormal circulation that leads to cerebral dysfunction, electrical instability (seizures), and cerebral cortical atrophy. Seizures usually present within the first two years of life. Typically the occipital lobes are affected first, and most severely, but the disease may also involve the parietal and temporal lobes.

Imaging findings include tram-track calcification following the gyri of the involved portion of the cerebral hemisphere (on plain films), gyral calcification, and cerebral atrophy. Though gyriform enhancement may be seen in the region of the pial angioma on CECT, contrast-MR is more sensitive for their detection and characterization, especially of the meninges and the retina.


Dr. Deepak Patkar, MRI Centre, Nanavati Hospital, Mumbai