DOI: 10.36347/sjmcr.2023.v11i11.033

Pages: 2048-2052

Neuronal ceroid lipofuscinoses (NLCs) belong to the group of lysosomal diseases. Their transmission is autosomal recessive. They are characterized by progressive degenerative neurological damage of variable clinical expressions, and by ophthalmic damage. Jansky-Bieloschowsky disease is the classic late infantile form of CLNs or classic CLN2. The EEG tracing is characteristic. Visual and somaesthetic cortical evoked potentials are abnormal. Cerebral MRI shows cerebellar and then cerebral cortical atrophy associated with T2 hypersignal of the periventricular white matter. The diagnosis was confirmed by biochemical, histological, and molecular tests. Patient n°1 is 7 years old. She is bedridden and visually impaired. She was presented with psychomotor regression at the age of 3 and epilepsy 6 months later. Brain imaging and EEG were typical. TPP1 (tripeptidyl-peptidase1) enzyme activity was significantly reduced. Patient 2 is a 5-year-old girl who is also bedridden and visually impaired. She presented with psychomotor regression at the age of 3 years and 2 months, and epilepsy 11 months later. Brain imaging and EEG were typical, and TPP1 enzyme activity had collapsed. These two observations illustrate the diagnostic particularities of this very rare disease and current therapeutic perspectives.