ATYPICAL JUVENILE NEURONAL CEROID LIPOSFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSIT-LIKE INCLUSIONS IN THE AUTONOMIC NERVE-CELLS OF THE GUTWALL

In this 8-year-old boy, who had been exposed to alcohol and oxazepam d uring pregnancy, visual failure was the first symptom of a neuronal ce roid lipofuscinosis (NCL) disorder, noticed at the age of 5 years, Oph thalmological examinations revealed a cystic type of macular degenerat ion, which would be more likely to be found in variant late infantile NCL. However, vacuolated lymphocytes were found in peripheral blood fi lms and a diagnosis of the juvenile form of NCL (JNCL) was made. Molec ular genetic studies showed the patient to be homozygous for the major mutation of JNCL, a 1.02-kb deletion. In whole-night polysomnography, there was significantly mon epileptiform activity than in other JNCL patients under 10 years of age. Using magnetic resonance imaging, the signal intensity of the white matter was increased, especially in the periventricular-area. In addition, there were enlarged perivascular sp aces in the watershead areas, The corpus callosum was thin. Finally, i n the autonomic ganglion cells of the submucosal nerve plexus there we re membrane-enclosed homogeneous and granular cytosomes resembling the granular osmiophilic deposits of infantile NCL. However, extraneural cells, including blood capillaries and smooth muscle, showed inclusion s with fingerprint and curvilinear profiles. The features of the prese nt case indicated a phenotypic variant of JNCL.