Juvenile neuronale ceroid-lipofuszinose (M. Spielmeyer-Vogt)

Background The neuronal ceroid-lipofuscinosis (NCL) belongs to progressive neurodegenerative disorders of childhood with both ophthalmologic and neurologic symptoms. In the most common type in Germany, the juvenile type, the ophthalmological examination is essential for an early diagnosis. Patient A 5-year-old boy had exhibited a loss of visual acuity, visual field and colour perception in his pre-school age. His clinical features and electrophysiologic data are presented. The final diagnostic clues were drawn from the neuropediatric and cytologic examinations. Results This patient shows the typical clinical feature of the juvenile NCL with a relatively rapid visual loss with bull's eye maculopathy in the pre-school- to early school age. His electroretinogram was abolished, and his EEG showed pathologic results. The diagnosis could be established by electron microscopy of his lymphocytes. Epilepsy and intellectual defects are expected to set in only few years later. Conclusions Although there is no therapy, the ophthalmologist should be aware of this rare entity because prognostic counselling, social help and perhaps genetic counselling could be offered to the families. In many cases, a prenatal diagnosis is possible.