[P1-184] Follow-up study of 14 Chinese infantile onset patients with vanishing white matter disease
[Objective]: Early childhood onset (2-6 years old) is the most common type in vanishing white matter disease (VWM). Patients with Infantile onset were rare. This study aimed to delineate the natural history and neuroradiological features of the infantile onset VWM.
[Methodology]: 14 gene confirmed infantile onset VWM patients were followed up, including assessment of motor function progression (Gross motor function classification system, GMFCS), epileptic seizures, episodes of aggravation, social living ability, survival time and brain MRI features.
[Results]: The median age of disease onset was 1.38 years (0.5-1.92 years old), with rapid or progressive motor deterioration as initial symptom in 71.4% of cases. The motor function of the survival patients deteriorated rapidly 1-3 years after disease onset. 35.7% (5/14) experienced epileptic seizures. 92.9% (14/15) suffered from episodes of neurological deterioration in the case of febrile infection or minor head trauma. 11 patients died during the follow-up, with the median survival time of 2.08 ± 0.81 years. As for the social living ability in four survival patients, two were mild delay, while the others were severe delay. Compared with the brain MRI in childhood onset VWM, the white matter was more extensively affected, with the involvement of periventricular, subcortical U–fibers in all lobes, corpus callosum, internal capsule, brain stem and cerebellum.
[Conclusion]: The phenotype of infantile onset VWM was severe, manifested as rapid deterioration in motor function. Almost all patients suffered from episodes of neurological deterioration in case of stress. The median survival time was only 2.08 ± 0.81 years.
[Methodology]: 14 gene confirmed infantile onset VWM patients were followed up, including assessment of motor function progression (Gross motor function classification system, GMFCS), epileptic seizures, episodes of aggravation, social living ability, survival time and brain MRI features.
[Results]: The median age of disease onset was 1.38 years (0.5-1.92 years old), with rapid or progressive motor deterioration as initial symptom in 71.4% of cases. The motor function of the survival patients deteriorated rapidly 1-3 years after disease onset. 35.7% (5/14) experienced epileptic seizures. 92.9% (14/15) suffered from episodes of neurological deterioration in the case of febrile infection or minor head trauma. 11 patients died during the follow-up, with the median survival time of 2.08 ± 0.81 years. As for the social living ability in four survival patients, two were mild delay, while the others were severe delay. Compared with the brain MRI in childhood onset VWM, the white matter was more extensively affected, with the involvement of periventricular, subcortical U–fibers in all lobes, corpus callosum, internal capsule, brain stem and cerebellum.
[Conclusion]: The phenotype of infantile onset VWM was severe, manifested as rapid deterioration in motor function. Almost all patients suffered from episodes of neurological deterioration in case of stress. The median survival time was only 2.08 ± 0.81 years.