T1 pre-gad T2 FIR

Diagnosis: Coup de sabre syndrome

Coup de sabre syndrome is a rare, sporadic disease of indeterminate etiology which is characterized by progressive atrophy and deformity of one side of the face. When the disease becomes clinically apparent, patients develop a scar on the forehead which makes them look like they were struck on the face with a sword. Seizure disorder is another feature of this disease. Other names by which it may be known include progressive facial hemiatrophy, Parry-Romberg syndrome, and linear scleroderma. CT and MR findings include intracranial calcification and foci of increased T2 signal in the white matter. There is one reported case of a patient with Coup de sabre syndrome who had agenesis of the right caudate nucleus. The increased T2 signal in the white matter associated with this disease is thought to be due to an underlying chronic meningo-encephalitis with vascular involvement.

Whenever you see foci of cortical and subcortical increased T2 signal with intracranial calcification, tuberous sclerosis is a good thought. In this case however there are no subependymal calcifications which are more characteristic of tuberous sclerosis. Subcortical calcifications may be present in tuberous sclerosis however. These represent calcified hamartomas. Furthermore, enhancement and confluent deep white matter of T2 signal abnormality are not characteristic of tuberous sclerosis. Demyelination may be considered; however, these lesions would not be typical and this diagnosis will not explain the intracranial calcifications. Given the presumed pathogenesis of the disease including a vasculopathy with meningoencephalitis, the findings of enhancing lesions with confluent signal abnormality would be compatible those processes. Related Cases

Leao M, da Silva M. Progressive hemifacial atrophy with agenesis of the head of the caudate nucleus. Journal of Medical Genetics, Dec 1994; 31(12):969-71.

Terstegge K., Kunath B, Felber S, Speciali JG, Henkes H, Hosten N. MR of brain involvement in progressive facial hemiatrophy (Romberg disease): reconsideration of a syndrome. AJNR, Jan 1994; 15(1):145-50.

Fry JA, Alvarellos A, Fink CW, Blaw ME, Roach ES. Intracranial findings in progressive facial hemiatrophy. Jour of Rheumatology, Jun 1992; 19(6):956-8.

Tuberous sclerosis CNS vasculitis Tuberous sclerosis