Parry-Romberg syndrome with focal epilepsy, progressive cerebral MRI alterations and CSF findings of a chronic inflammatory CNS disorder

Objectives: The Parry-Romberg syndrome is characterized by a slowly progressive facial hemiatrophy primarily involving the subcutaneous and fatty tissue. Extrafacial manifestations are described. There may develop an additional atrophy of muscle, cartilage and bone tissue. In some patients a cerebral involvement with epilepsy has been reported. The etiology of the Parry-Romberg syndrome is unknown, suggested causes have included cerebral dysgenetic mechanisms, cervical sympathetic dysfunction, infectious agents and an autoimmunological process.

Material and Methods: We report about a girl, who has developed localized frontal alopecia at the age of 6½ years, which was diagnosed as sclerodermia en coup de sabre. At the same time generalized convulsions developed, therefore an anticonvulsive therapy was initiated. In the further course a slowly progressive facial hemiatrophy developed and the diagnosis of Parry- Romberg syndrome was made. At the age of 10½ years therapy with valproic acid was stopped. Focal sensory and motoric seizures recurred one year later and became more frequently at the age of 12½ years. Under treatment with carbamazepine seizures stopped quickly.

Results: The cerebral MRI scan at the age of 6½ years retrospectively showed poor white-gray matter demarcation at the side of the alopecia. An MRI examination 6 years later revealed several additional small hyperintensive lesions in the T2 weighted images in the periventricular and parietal white matter. CSF at the age of 12½ years showed positive oligoclonal bands, intrathecal immunoglobulin synthesis of IgG and IgM and a positive MRZ reaction. These findings point to a chronic inflammatory CNS disorder.

Conclusions: The findings of progressive cerebral MRI alterations and of chronic inflammatory CSF alterations in our patient are contradictory to the postulated pathophysiological mechanism of a primary cerebral malformation. Our findings support the hypothesis of a chronic inflammatory disorder and may have therapeutic implications for patients with Parry-Romberg syndrome.