Dystrophy of Purkinje cell dendrites and vacuolar myelinopathy of the upper brain stem in young Turkish twin girls: secondary encephalopathy or genetic disorder?

Two Turkish twin sisters exhibited alteration of muscle tonus and coordination together with a disturbance of eye motility and a tendency toward central tonoclonic seizures at the age of 2 months. The two children died at the ages of 8 1/2 and 12 months. Microscopic findings in the cerebellum of one of the cases showed cactuslike thickenings of the Purkinje cell dendrites and grumose degeneration in the nucleus dentatus. In addition, vacuolar myelinopathy of the myelinated fiber systems of the upper brain stem was observed. A hereditary disorder of the central nervous system is discussed.