Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis
SourcePediatric Neurology, 73, (2017), pp. 98-100
Article / Letter to editor
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Paediatrics - OUD tm 2017
SubjectRadboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience
BACKGROUND: This report highlights the differential diagnosis of predominant cerebellar white matter abnormalities with dentate nuclei involvement. PATIENT DESCRIPTION: We describe two individuals with Langerhans cell histiocytosis in whom the diagnosis of cerebrotendinous xanthomatosis was initially considered. The clinical picture consisted of a progressive cerebellar syndrome with typical magnetic resonance imaging abnormalities. In both individuals, the cerebellar syndrome preceded the diagnosis of Langerhans cell histiocytosis. CONCLUSIONS: The magnetic resonance imaging abnormalities and neurological features in patients with Langerhans cell histiocytosis can be strikingly similar to those with cerebrotendinous xanthomatosis. In cerebrotendinous xanthomatosis, the cerebellar symptoms and cerebellar white matter abnormalities are usually seen in adult patients. In a pediatric patient with a cerebellar syndrome, showing these cerebellar white matter abnormalities a diagnosis of Langerhans cell histiocytosis is more likely.
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