Early onset leukoencephalopathy with vanishing white matter

Leukodystrophies are a group of developmental disorders of the white matter in the central nervous system. Their differential diagnosis is very broad, and as such information from neuroimaging can be very useful. We present the case of an infant diagnosed with leukoencephalopathy with vanishing white matter following neurological regression. A 7-month-old male infant with no relevant history was admitted to a tertiary hospital as a result of vomiting, refusing food, and neurological symptoms. The episode was diagnosed as subacute rhombencephalitis based on the clinical findings and brain magnetic resonance imaging. Treatment with corticotherapy was undertaken, and led to gradual improvement. The patient was admitted once again three months later, due to an evident neurological regression after vaccination. A further MRI brain scan showed findings compatible with leukodystrophy, which was diagnosed as leukoencephalopathy with vanishing white matter after a genetic study. Treatment of symptoms was undertaken with follow-up by the home hospitalisation unit. However, the patient finally died at 15 months of age as a consequence of the evolution of his condition. Dealing with neurological regression in paediatric patients is challenging, and neuroimaging may be very useful for an initial diagnosis. There is no curative treatment for most leukodystrophies and the prognosis is usually poor. The patient's comfort must therefore be optimised, and genetic counselling must be provided.