NEW SPIELMEYER-VOGT VARIANT WITH GRANULAR INCLUSIONS AND EARLY BRAIN ATROPHY

Three females in 2 families were originally diagnosed with Spielmeyer- Vogt disease (SVD). The clinical course was different from SVD, with v ision well preserved until age 10 years, and learning rather than visu al difficulties the marker at the onset. Later, regression was unusual ly rapid, including global dementia, blindness, aphasia, and finally l oss of self-feeding and ambulation between ages 12-18 years. MRI scan in patient 3 documented brain atrophy between ages 8-10 years. Positio n Emission Tomography (PET) scanning with fluorodeoxyglucose in patien ts 2 and 3 showed diffusely decreased or absent cortical glucose metab olism, comparable at ages 12 and 18 years, respectively, to the result s found in the oldest typical SVD case tested at age 29 years. Fine gr anular inclusions, instead of the expected fingerprint inclusions, wer e demonstrated by electron microscopy of lymphocytes, conjunctiva, and skin. Usual markers on chromosome 16p12 were not present in the first family tested. The clinical course, with nonspecific initial behavior difficulties, late onset of visual decline followed by fast global re gression, progressive brain atrophy, decreased cortical glucose utiliz ation as shown by PET scanning, and granular tissue inclusions, sugges t a genetic variant of SVD. (C) 1995 Wiley-Liss, Inc.