Cerebellar disease mimicking Cerebrotendinous xanthomatosis: Langerhans cell histiocytosis

Publication date: Available online 18 April 2017
Source:Pediatric Neurology
Author(s): Bianca M.L. Stelten, Marjo S. van der Knaap, Ron A. Wevers, Aad Verrips
BackgroundThis report highlights the differential diagnosis of predominant cerebellar white matter abnormalities with dentate nuclei involvementPatient descriptionWe describe two pediatric patients diagnosed with Langerhans cell histiocytosis, in whom initially also the diagnosis of cerebrotendinous xanthomatosis was considered. The clinical picture consisted of a progressive cerebellar syndrome with typical magnetic resonance imaging abnormalities. In both patients, the cerebellar syndrome preceded the diagnosis of Langerhans cell histiocytosis.ConclusionThe 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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