Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families

Four patients with leukoencephalopathy with vanishing white matter from three unrelated Brazilian families are reported. In all cases the initial symptoms occurred in the three first years of life. In three cases the onset was acute and at least in two patients the involvement of the white matter preceded the clinical symptoms. Only cerebellar and pyramidal signs were present and persisted throughout the evolution. An episodic course with worsening of the symptoms during febrile illnesses was noted in one patient. In three patients a significant deceleration of the head growth was noted. In one family, brother and sister were affected but the twin brother of the boy was free from the disease. In another family, the patient had a sister who died at 13 years of age from an identical disease not diagnosed at that time. In one family, the parents were first cousins. In all patients, serial magnetic resonance imaging and magnetic resonance spectroscopy showed the characteristic picture of the involvement of the white matter with increasing signal intensity close to that of the cerebrospinal fluid.