Related Experiment Video
Updated: Jul 13, 2026
Mouse Models of Periventricular Leukomalacia
Published on: May 18, 2010
[Early onset leukoencephalopathy with vanishing white matter]
L Barrachina-Jordá1, C Villar-Vera2, L Monfort-Belenguer2
1Hospital Clínico Universitario de Valencia, Valencia, España.
Insights
Leukodystrophy, a white matter disorder, can cause neurological regression in infants. This case highlights the diagnostic utility of neuroimaging and genetic studies for leukoencephalopathy with vanishing white matter, a condition with a poor prognosis.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Leukodystrophies are a diverse group of central nervous system white matter developmental disorders.
- Accurate diagnosis is crucial due to the broad differential diagnosis.
- Neuroimaging plays a vital role in identifying these conditions.
Observation:
- A 7-month-old infant presented with neurological regression, vomiting, and feeding refusal.
- Initial diagnosis of subacute rhombencephalitis was made based on clinical presentation and MRI.
- Neurological deterioration occurred post-vaccination, prompting further investigation.
Findings:
- Brain MRI revealed findings consistent with leukodystrophy.
- Genetic studies confirmed the diagnosis of leukoencephalopathy with vanishing white matter (LVWM).
- The infant experienced progressive neurological decline despite symptomatic treatment.
Implications:
- This case underscores the importance of neuroimaging and genetic analysis in diagnosing pediatric leukodystrophies.
- Early diagnosis aids in providing genetic counseling and optimizing patient comfort.
- Currently, there is no cure for LVWM, and the prognosis remains poor.
Introduction:
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.
Case Report:
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.
Conclusions:
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.
Related Concept Videos
01:19Encephalitis l: Introduction
01:26Encephalitis ll: Pathophysiology
01:19Multiple Sclerosis l: Introduction
01:22Cerebral Edema ll: Pathophysiology
01:22Dementia l: Introduction
01:29Hepatic Encephalopathy